AiPD: Autoinhibited Protein Database

Q9UM73

Gene name	ALK
Protein name	ALK tyrosine kinase receptor
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:238
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

ALK is a receptor tyrosine kinase involved in the development of several human cancers. Its autoinhibition is mediated by an intramolecular interaction between β-sheet (β1' and β2') and DFG helix in an activation loop, which occludes the substrate binding site. The activation loop contains phosphorylation sites, which need to be phosphorylated for ALK activation.

Autoinhibitory domains (AIDs)

Target domain	1116-1392 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis

AID

1096-1103 (β1'-sheet and β2'-sheet)

Target domain

1116-1392 (Protein kinase domain)

Relief mechanism

PTM (Phosphorylation within the activation loop)

Assay

Structural analysis

Accessory elements

1269-1294 (Activation loop from InterPro)

Target domain	1116-1392 (Protein kinase domain)
Relief mechanism	PTM
Assay	Structural analysis

References

Bossi RT et al. (2010) "Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors", Biochemistry, 49, 6813-25

Donella-Deana A et al. (2005) "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity", Biochemistry, 44, 8533-42

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Tu CH et al. (2016) "Pyrazolylamine Derivatives Reveal the Conformational Switching between Type I and Type II Binding Modes of Anaplastic Lymphoma Kinase (ALK)", Journal of medicinal chemistry, 59, 3906-19

Autoinhibited structure

Activated structure

78 structures for Q9UM73

Entry ID	Method	Resolution	Chain	Position	Source
2KUP	NMR	-	B	1571-1589	PDB
2KUQ	NMR	-	A	1571-1589	PDB
2XB7	X-ray	250 A	A	1094-1407	PDB
2XBA	X-ray	195 A	A	1094-1407	PDB
2XP2	X-ray	190 A	A	1093-1411	PDB
2YFX	X-ray	170 A	A	1093-1411	PDB
2YHV	X-ray	190 A	A	1093-1411	PDB
2YJR	X-ray	190 A	A	1093-1411	PDB
2YJS	X-ray	190 A	A	1093-1411	PDB
2YS5	NMR	-	B	1571-1589	PDB
2YT2	NMR	-	A	1571-1589	PDB
3AOX	X-ray	175 A	A	1069-1411	PDB
3L9P	X-ray	180 A	A	1072-1410	PDB
3LCS	X-ray	195 A	A	1072-1410	PDB
3LCT	X-ray	210 A	A	1072-1410	PDB
4ANL	X-ray	170 A	A	1093-1411	PDB
4ANQ	X-ray	176 A	A	1093-1411	PDB
4ANS	X-ray	185 A	A	1093-1411	PDB
4CCB	X-ray	203 A	A	1093-1411	PDB
4CCU	X-ray	200 A	A	1093-1411	PDB
4CD0	X-ray	223 A	A	1093-1411	PDB
4CLI	X-ray	205 A	A	1093-1411	PDB
4CLJ	X-ray	166 A	A	1093-1411	PDB
4CMO	X-ray	205 A	A	1093-1411	PDB
4CMT	X-ray	173 A	A	1093-1411	PDB
4CMU	X-ray	180 A	A	1093-1411	PDB
4CNH	X-ray	190 A	A/B	1093-1411	PDB
4CTB	X-ray	179 A	A	1093-1411	PDB
4CTC	X-ray	203 A	A	1093-1411	PDB
4DCE	X-ray	203 A	A/B	1078-1410	PDB
4FNW	X-ray	175 A	A	1084-1410	PDB
4FNX	X-ray	170 A	A	1084-1410	PDB
4FNY	X-ray	245 A	A	1084-1410	PDB
4FNZ	X-ray	260 A	A	1084-1410	PDB
4FOB	X-ray	190 A	A	1058-1410	PDB
4FOC	X-ray	170 A	A	1058-1410	PDB
4FOD	X-ray	200 A	A	1078-1410	PDB
4JOA	X-ray	270 A	A	1072-1410	PDB
4MKC	X-ray	201 A	A	1072-1410	PDB
4TT7	X-ray	210 A	A	1095-1410	PDB
4Z55	X-ray	155 A	A	1072-1410	PDB
5A9U	X-ray	160 A	A	1093-1411	PDB
5AA8	X-ray	186 A	A	1093-1411	PDB
5AA9	X-ray	193 A	A	1093-1411	PDB
5AAA	X-ray	173 A	A	1093-1411	PDB
5AAB	X-ray	220 A	A	1093-1411	PDB
5AAC	X-ray	170 A	A	1093-1411	PDB
5FTO	X-ray	222 A	A	1094-1407	PDB
5FTQ	X-ray	170 A	A	1094-1407	PDB
5IMX	X-ray	212 A	A	1093-1411	PDB
5IUG	X-ray	193 A	A	1084-1410	PDB
5IUH	X-ray	210 A	A	1084-1410	PDB
5IUI	X-ray	188 A	A	1084-1410	PDB
5KZ0	X-ray	230 A	A	1093-1411	PDB
5VZ5	X-ray	259 A	C	1274-1283	PDB
6AT9	X-ray	295 A	C	1274-1283	PDB
6CDT	X-ray	180 A	A	1093-1411	PDB
6E0R	X-ray	230 A	A	1090-1406	PDB
6EBW	X-ray	246 A	A	1090-1406	PDB
6EDL	X-ray	280 A	A	1090-1406	PDB
6MX8	X-ray	196 A	A	1094-1400	PDB
7BTT	X-ray	186 A	A	1093-1410	PDB
7JY4	X-ray	242 A	A	1090-1406	PDB
7JYR	X-ray	232 A	A	1090-1406	PDB
7JYS	X-ray	222 A	A	1090-1406	PDB
7JYT	X-ray	200 A	A	1090-1406	PDB
7LRZ	X-ray	191 A	A	678-986	PDB
7LS0	X-ray	305 A	A/B/C/D	678-1030	PDB
7MZW	NMR	-	A	673-1025	PDB
7MZY	X-ray	150 A	A/B	673-986	PDB
7N00	EM	227 A	A/C	648-1025	PDB
7NWZ	X-ray	417 A	A/B/E/F	648-985	PDB
7NX3	X-ray	281 A	A/F	648-1030	PDB
7NX4	X-ray	300 A	A	648-1030	PDB
7R7K	X-ray	183 A	A	1093-1411	PDB
7R7R	X-ray	194 A	A	1093-1411	PDB
8ARJ	X-ray	165 A	A	1093-1411	PDB
AF-Q9UM73-F1	Predicted				AlphaFoldDB

1667 variants for Q9UM73

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA346590865 rs1446332510 RCV000538902	3	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000534322 CA346590852 rs1272214012	5	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647375 CA1595074 rs749905243	8	W>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1222954765 CA346590832 RCV000699226	8	W>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA891843394 RCV000696420 rs1558550306	9	L>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs767822322 CA1595067 RCV000647453	11	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs770134645 RCV000698820 CA1595061	15	S>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369196372 CA1595057 RCV000698821	17	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16610758 rs1060500214 RCV000458240	26	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA16610745 RCV000461648 rs1060500231	28	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000686628 rs1558550220 CA346590710	30	G>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16610741 rs1026192345 RCV000464595	31	S>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs759748510 CA45004786 RCV000703099	32	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773691688 CA1595046 RCV000525534	36	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000119961 RCV000459437 rs201490095 CA156587	36	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs200212200 RCV000690131 CA346590661	40	P>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000544242 rs371679329 CA1595044	40	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10581967 rs878854653 RCV000234239	41	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1553380444 RCV000647464 CA346590654	42	E>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000685884 CA346590644 rs78378278	43	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346590621 RCV001137337 rs1402352282	47	S>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs541315214 CA1595037 RCV000551780	47	S>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1060500221 RCV000471882 CA16610754	48	R>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000464657 rs1060500222 CA16610735	50	Q>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA346590572 rs1217013970 RCV000761028	55	A>E	Pituitary adenoma, familial isolated [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA346590545 rs1553380428 RCV000647452	59	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1414978905 CA346590491 RCV000647389	68	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
COSM1668828 RCV000456939 CA1595025 rs769061878	69	R>Q	Neuroblastoma, susceptibility to, 3 haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000686168 CA346590456 rs1187464179	74	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1667963680 RCV001137336	75	P>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs748978993 RCV000555107 CA346590433	78	S>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1322397265 CA346590413 RCV000647408	82	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000695997 rs769440812 CA1595019	83	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs878854654 CA10581966 RCV000229231	86	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1558549988 RCV000691880 CA346590369	89	G>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1558549961 RCV000685350 CA346590340	94	D>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000458720 rs1060500234 CA16610734	94	D>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000647471 CA346590345 rs1060500234	94	D>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA45004775 rs1057065255 RCV000551975	96	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647392 CA1595011 rs765290844	97	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553380382 RCV000545479	100	R>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA1595008 rs764559656 RCV000553207	100	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs576431612 RCV000229111 CA1595006	104	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs576431612 RCV000530879 CA1595007	104	P>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000647444 rs1553380367 CA346590279	105	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000691876 rs1037485859 CA346590272	106	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1595003 rs762635291 RCV000538109	107	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000473883 rs1060500227 CA16610825	112	A>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000706489 CA346590224 rs1023682229	115	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000694130 CA346590210 rs201290745	117	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs201290745 RCV000541277 CA1594997	117	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1383948379 CA346590207 RCV000706876	118	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1594995 RCV000647455 rs758250431	119	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000475632 CA1594993 rs779147984	121	R>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346590185 rs1558549790 RCV000698277	122	T>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000647396 CA346590181 rs1367800764	122	T>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs764265048 CA1594990 RCV000647495	126	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594989 RCV000555312 rs756510939	128	K>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000544098 rs1553380334 CA346590148	129	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594986 rs760041708 RCV000647443	129	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346590139 rs1553380330 RCV000647425	130	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594982 rs775940832 RCV000647424	133	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000536858 CA1594977 rs745712273	136	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs757382067 RCV000647474 CA1594975	137	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs757382067 CA346590105 RCV000647387	137	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594973 rs777656583 RCV000704200	143	L>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594970 rs374276783 COSM1407686 RCV000688324	149	A>V	Neuroblastoma, susceptibility to, 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1553380299 CA346590007 RCV000647456	152	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346590009 RCV000647418 rs1553380301	152	E>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1060500233 CA16610818 RCV000470706	152	E>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs761318889 RCV000539740 CA1594966	156	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs775385954 CA1594961 RCV000690874	157	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594963 RCV000229990 rs74774946	157	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000231787 rs536284304 CA1594960	158	P>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000528506 rs1244823020	160	E>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA156593 VAR_041478 rs55697431 RCV000119963 RCV000470397	163	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1060500219 RCV000476008 CA16610730	164	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000690373 CA1594953 rs781440137	167	Q>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs755498584 RCV000461574 CA1594952	168	F>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs932619554 RCV000693634 CA346589918	169	N>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000647440 CA1594951 rs752129360	169	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647378 RCV000119962 CA156590 rs587778020	174	F>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs767019998 CA1594945 RCV000547009	175	S>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000470928 CA16610816 rs1060500223	183	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346589813 RCV000700521 rs1558549514	184	R>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000690430 rs1558549504 CA346589803	186	R>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1241980 rs770006984 RCV000531215 CA1594939	192	E>K	Neuroblastoma, susceptibility to, 3 oesophagus large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs77677701 CA156596 RCV000227457 RCV000119964	198	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000458582 rs1060500224 CA16610751	202	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs141093002 RCV000647466 CA1594933	206	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000647412 rs755697363 CA1594931	210	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594930 rs370297427 RCV000647391	214	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1020029 rs766999851 CA346589633 RCV000647380	214	R>H	Neuroblastoma, susceptibility to, 3 endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs886055932 CA10615011 RCV000706113	219	I>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs199584443 RCV000560898 CA1594926	221	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1060500230 CA16610749 RCV000475825	231	T>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs142120301 RCV000647423 CA1594898	231	T>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1594893 RCV000559983 rs778129557	233	M>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16610815 RCV000457647 rs1060500209	234	P>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000536160 rs1311300230	238	P>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA1594888 RCV000694546 rs550608288	240	Y>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000556786 CA1594884 rs763986679	244	N>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs753646573 RCV000461860 CA1594885	244	N>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1558457342 CA346587707 RCV000699872	247	W>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553351744 RCV000537508 CA346587656	254	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594879 RCV000702200 rs774815140	254	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000468417 rs771593278 CA1594872	259	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs771593278 RCV000696275 CA1594873	259	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000465029 rs138686378 RCV000119973 CA156623	259	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000550182 rs972790555 CA44979597	261	R>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000460065 rs375097381 CA1594870	261	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1594845 rs140497106 RCV000697420	265	E>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
CA156659 RCV000119985 RCV000463094 rs143229596	270	F>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1553348534 CA346587094 RCV000551516	271	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553348530 CA346587064 RCV000647477	276	Y>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346587052 rs1486167712 RCV000687249	277	S>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346587053 RCV000647420 rs1486167712	277	S>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs199703254 CA1594839 RCV000704714	278	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000647413 CA1594837 rs759250272	281	H>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM721277 CA346587014 RCV000687597 rs1558446131	284	R>K	lung Neuroblastoma, susceptibility to, 3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000687194 CA346586964 rs1558446122	290	W>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594834 rs748854412 COSM1407680 RCV000540271	291	R>C	Neuroblastoma, susceptibility to, 3 large_intestine central_nervous_system [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000465368 COSM1182532 rs572340007 CA1594833	291	R>H	Neuroblastoma, susceptibility to, 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594831 COSM1407679 rs201750304 RCV000699607	292	R>C	Neuroblastoma, susceptibility to, 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000473638 CA1594830 rs149145987	292	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754823963 CA1594829 RCV000702429	295	S>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647483 CA1594827 rs56077855	296	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594825 rs750435024 RCV000647405	298	A>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000457871 rs577240830 CA1594826	298	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750435024 CA346586923 RCV000533557	298	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647377 CA1594817 rs199790669	307	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000474281 rs746818719	308	G>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346586865 RCV000539346 rs1553348499	308	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs145681577 CA1594814 RCV000476286	309	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000456305 CA16610811 rs748017801	309	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs367712624 CA1594812 RCV000551970	310	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs149837139 RCV000647427 CA1594810	311	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000119984 COSM1236664 rs150966028 RCV000233768 CA156656	311	R>H	Neuroblastoma, susceptibility to, 3 autonomic_ganglia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778845512 RCV000647433 CA1594807	314	E>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs538448899 CA1594808 RCV000532666	314	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs770893847 RCV000647415 CA44957104	318	G>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs878854661 RCV000227659 CA10581964	318	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000703579 CA346587554 rs1558370621	324	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000706649 rs1414553731 CA346587536	327	A>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000687957 rs1279941719 CA346587438	341	S>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs973756393 RCV000647416 CA346587435	342	S>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346587411 RCV000686067 rs1558370551	345	C>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594778 RCV000687580 rs763611527	348	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000230394 CA1594770 rs773367495	356	Q>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA156662 RCV000119986 rs144030155 RCV000460983	367	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000555000 rs373120394 CA1594766	370	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA156665 rs149968229 RCV000531158 RCV000119987	371	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346587223 RCV000704681 rs929806482	375	I>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1178669386 CA346587206 RCV000546331	378	M>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647404 rs140928266 CA1594761	383	K>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1594759 RCV000456362 rs774127733	385	G>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001222527 rs1668965828	393	I>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs779282861 CA1594727 RCV000542876	395	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs769910087 CA1594726 RCV000560261 COSM1172867	395	R>H	Neuroblastoma, susceptibility to, 3 oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs747810439 CA1594725 RCV000536445	397	D>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000462810 rs368122868 CA1594724	397	D>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1594723 rs754512910 RCV000556781	398	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000459583 CA16610925 rs1060500211	403	A>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA156668 RCV000471259 rs370235133 RCV000119988	405	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000647382 CA346585290 rs1553309548	405	E>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs147102592 CA1594714 RCV000226969 RCV000523293	412	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000647434 CA346585193 rs1388736375	412	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346585152 RCV000647462 rs775917326	416	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA16610723 RCV000471810 rs775917326	416	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA346585150 RCV000807743 rs772529363	416	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001299147 rs1668962676	417	V>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346585146 RCV000647437 rs886055931	417	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10615010 rs886055931 RCV000706940	417	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1594710 rs771340984 RCV000697687	424	N>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000473185 rs111796753 CA1594708	426	S>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs371652715 RCV000537783 CA1594707	427	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1558675795 CA346474545 RCV000691858	434	K>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs745772939 RCV000474708 CA16610719	436	A>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346474339 RCV000685424 rs1425828384	448	V>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1594676 rs766818130 RCV000647430	454	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000231007 CA1594674 rs773380015	459	Q>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594671 rs55706535 RCV000466440	464	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553411110 RCV000526293 CA346474132	465	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000548308 CA1594666 rs749263944	472	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594644 rs768799403 RCV000696903	473	K>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000119989 CA156671 rs35093491 COSM3758202 RCV000566776 VAR_041480 RCV000470544 RCV000589563	476	V>A	Neuroblastoma, susceptibility to, 3 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000526976 rs1400418889 CA346472677	479	Y>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001229422 rs1667016608	480	C>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346472366 rs1558669753 RCV000691439	499	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1229156257 RCV000551942 CA346472319	503	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000647417 CA1594635 rs751321667	505	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs762569153 RCV000647400 CA1594633	506	L>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs776351932 CA1594629 RCV000689840	510	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201449759 RCV000532921 CA1594630	510	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000553296 CA1594613 rs761724656	516	D>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs367674546 CA1594612 RCV000529454	517	H>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA346471360 RCV000546886 rs1553409333	522	S>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553409330 CA346471327 RCV000647407	523	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000703520 RCV000761066 CA1594597 rs758494304	528	A>T	Neuroblastoma, susceptibility to, 3 Pituitary adenoma, familial isolated [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000695111 rs1558667792 CA346471195	530	E>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000543527 CA1594592 rs775302364	538	T>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553409296 RCV000560743 CA346470969	541	A>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000536801 CA1594589 rs372456536	542	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1594568 RCV000467087 rs769821764	550	L>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1182537 RCV001065371 CA346466707 rs1172956542	551	R>*	Neuroblastoma, susceptibility to, 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
rs374136388 CA1594566 COSM1182536 RCV000460471	551	R>Q	Neuroblastoma, susceptibility to, 3 large_intestine skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV000688237 rs200364883 CA1594562	557	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200468507 RCV000535999 CA1594560	557	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000548498 rs1553406025 CA346466442	567	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs754971913 CA1594555 RCV000524799	569	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
CA346466384 rs902275025 RCV000541762	571	N>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001143783 rs762358335	574	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000525971 CA1594552 rs762358335	574	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA44643058 RCV000538689 rs1010580453	575	K>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647465 rs1430381834 CA346466272	577	Q>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000695234 rs761184891 CA1594545	583	H>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000555720 rs75158395 CA1594541	586	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000691667 CA44642925 rs1046338903	586	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000689864 CA1594540 rs769505453	589	G>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000647463 rs754810505 CA1594537	596	M>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647411 CA1594536 rs747000305	597	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000533210 rs1304239235 CA346480055	607	F>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1302907379 CA346480021 RCV000686075	611	M>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1431784023 CA346480020 RCV000647450	612	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000687955 rs760038434 CA1594508	614	W>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA44665684 RCV000704856 rs906659904	624	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1553402765 RCV000647431 CA346479933	625	F>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594482 RCV000474932 rs144453491	640	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1594475 rs755124993 RCV000545962	654	N>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs780562062 RCV000647472 CA346479696	659	N>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs758860363 CA1594472 RCV000476121	661	N>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594466 RCV000459331 rs539763601	667	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594464 RCV000476479 rs767998637	671	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000234538 rs145780832 CA1594465	671	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000457475 CA16610715 rs1060500225	672	R>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1178181097 RCV000698575 CA346479603	674	T>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1469128263 CA346479600 RCV000685756	675	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000693880 rs35670445	676	I>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000688259 CA346479569 rs1558648699	679	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1558648699 CA346479570 RCV000703237	679	P>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_041482 CA156602 RCV000567568 RCV000589416 rs35228363 RCV000463467 RCV000119966	680	T>I	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1664809619 RCV001143780	689	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs373846404 COSM1690373 CA1594440 RCV000530163	692	G>R	Neuroblastoma, susceptibility to, 3 skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_041483 RCV000697086 CA1594432 rs34829159	704	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV000463314 rs376175333 RCV000119967 CA156605	709	N>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594423 RCV000698689 rs772363561	717	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000507604 rs147858673 RCV000226263 CA1594424	717	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000699154 RCV000761178 CA1594416 rs768366852	732	D>N	Neuroblastoma, susceptibility to, 3 Pituitary adenoma, familial isolated [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594388 rs368581969 RCV000559061	737	S>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001227336 rs141858653	739	Y>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346474705 RCV000647479 rs1553397495	746	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs762395127 RCV000230160 CA1594381	747	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1558633442 CA346474681 RCV000702598 COSM1244837	748	K>T	Neuroblastoma, susceptibility to, 3 oesophagus [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000469555 rs187200776 CA16610706	753	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA1594379 rs745499366 RCV000647398	753	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594377 RCV000647480 rs375480327	755	H>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000547844 CA44642976 rs925915337	755	H>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs371005946 COSM50296 RCV000528414 CA1594372	757	V>M	Neuroblastoma, susceptibility to, 3 large_intestine [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1594370 RCV000647399 rs199691702	759	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346474482 rs1169776576 RCV000536579	762	I>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs751419856 CA1594369 RCV000476112	762	I>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA1594357 rs549721018 RCV000692321	782	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000466718 CA1594324 rs763503560	795	I>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1558630567 RCV000697590	804	E>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000459873 CA1594321 rs80227749	806	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs761568836 CA1594319 RCV000539294	806	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1664283510 RCV001308655	808	N>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs200486099 RCV000530364 CA44639179	815	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
COSM1690372 RCV000706090 rs777803249 CA1594309	818	G>R	Neuroblastoma, susceptibility to, 3 skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs571958914 RCV000647393 CA346472120	824	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs753584062 RCV000555508 CA1594301	827	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594302 RCV000542818 rs756963896	827	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000469900 CA1594284 rs780536554	830	M>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1417845239 RCV000689775 CA346472066	830	M>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA44638401 rs74360487 RCV000693126	833	G>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs376091121 CA1594280 RCV000647460	835	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1664240821 RCV001214042	836	V>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs1573139642 RCV000804869	838	L>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346471987 rs1371180882 RCV000698411	839	I>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs766322560 CA1594275 RCV000463494	841	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1043717591 CA346471876 RCV000647473	849	Y>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000531572 rs200563480 CA1594267	850	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000686335 rs200563480 CA44638296	850	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1594264 rs371441614 RCV000462120	852	K>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000464123 rs189078025 COSM370816 CA1594263	854	D>N	lung Neuroblastoma, susceptibility to, 3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs61754865 RCV000119968 RCV000226467 COSM1020014 CA156608	859	E>D	Neuroblastoma, susceptibility to, 3 endometrium [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1594257 rs528844155 RCV000691465	866	S>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000647379 rs1553396171 CA346471645	866	S>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000689003 CA1594255 VAR_061288 rs55941323	868	L>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1343280200 RCV000544275 CA346471549	872	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs374375387 RCV000690935 CA1594251	875	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs148001139 CA1594252 RCV000706675 COSM1531769	875	G>R	lung Neuroblastoma, susceptibility to, 3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs746442213 CA1594249 COSM20632 RCV000686637 VAR_041484	877	A>S	Neuroblastoma, susceptibility to, 3 ovary an ovarian serous carcinoma sample; somatic mutation [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000465261 rs746442213 CA1594250	877	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346470108 RCV000647376 rs1179544655	880	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs745406091 RCV000556665 CA1594222	885	D>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1664103646 RCV001068050	895	S>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV001205043 rs1664102433	901	T>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs766742720 RCV000534250 CA1594212	904	H>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1220052371 RCV000647447 CA346469739	914	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000227803 CA1594210 rs773447647	917	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746643773 CA1594208 RCV000551558	920	G>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553395572 CA346469543 RCV000535745	928	C>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001057238 rs767777102	930	S>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs1664095457 RCV001233562	933	G>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA1594193 rs766551269 RCV000548225	935	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000688109 CA1594168 rs372008367	940	G>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA44634686 rs372008367 RCV000647385	940	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA346468933 rs1379843994 RCV000647406	941	N>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1594166 rs368654781 RCV000473788	941	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000541510 rs1239836109	945	N>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000704797 rs1558626541	960	S>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs780284256 RCV000647429 CA1594151	967	T>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA346467998 RCV000689090 rs1344108786	982	K>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1558626238 RCV000700224 CA346467950	984	Y>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs997289275 RCV000647438 CA44634354	1001	S>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1594115 RCV000705006 rs764036965	1002	H>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553395221 RCV000647403 CA346467630	1006	C>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000694191 CA346467623 rs1558626190	1007	F>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA156614 rs587778021 RCV000119970 RCV000529391	1011	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000569647 CA156611 rs35073634 VAR_041485 RCV000119969	1012	T>M	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000468821 CA16610790 rs1060500212	1018	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1594108 rs76742576 RCV000546699	1019	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs756986057 CA1594102 RCV000234086	1023	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA156617 rs140733978 RCV000119971 RCV000475908	1027	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000344220 rs543328121 CA1594084	1029	P>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP
rs752256731 RCV000685807 CA1594077	1032	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs200080181 RCV000469232 CA16610731	1039	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs200080181 RCV000467803 RCV000761097 CA1594071	1039	V>M	Neuroblastoma, susceptibility to, 3 Pituitary adenoma, familial isolated [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA1594070 rs763143588 RCV000647402	1040	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs757521797 CA44633215 RCV000686482	1043	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs200641396 RCV000560602 CA346466870	1045	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594065 RCV000462948 rs200641396	1045	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000465205 RCV000119972 rs370049091 CA156620	1047	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs375889530 RCV000464094 RCV000761163 CA1594061	1054	G>S	Neuroblastoma, susceptibility to, 3 Pituitary adenoma, familial isolated [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001064492 rs772708400 CA1594043	1058	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs774836034 RCV000685274 CA1594041	1060	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM28494 RCV000466193 CA156626 rs72852032 RCV000119974	1061	R>Q	Neuroblastoma, susceptibility to, 3 autonomic_ganglia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000647394 rs371521416 CA1594039	1061	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000694168 CA346465404 rs1553394491	1077	E>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346465412 RCV000550589 rs1553394491	1077	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16610729 rs912992612 RCV000460284	1078	Y>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1594031 RCV000647442 rs754163075	1079	K>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs760151617 RCV000466916 CA1594026	1084	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000231894 CA1594025 rs138589984	1086	S>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA342013 rs113994090 RCV000020581	1087	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs113994090 RCV001141874	1087	T>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000461079 CA16610777 rs1060500228	1088	I>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000761080 RCV000420164 RCV000202983 rs864309584 CA249188 VAR_063850 COSM28502 RCV000647422	1091	D>N	Neuroblastoma, susceptibility to, 3 Pituitary adenoma, familial isolated NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD
rs1553394453 RCV000647478 CA346464890	1097	C>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1338813327 RCV000701987	1104	S>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000691079 rs1426033956 CA346464758	1105	I>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346464725 RCV000647388 rs1553394438	1107	D>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000549830 rs140606509 CA44631949 RCV000564507	1110	E>D	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA1594004 RCV000647454 rs199987354 RCV000566636	1113	R>Q	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000471575 CA1594005 rs773583710	1113	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1573125125 CA346464644 RCV001020048	1116	I>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000561972 CA1594002 rs774951734	1120	R>W	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1407662 VAR_041486 CA1593974 RCV000571840 RCV000467869 rs55760835	1121	G>D	Neuroblastoma, susceptibility to, 3 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs113994088 RCV000438595 COSM98475 CA341484 RCV000019710 VAR_063851 RCV000421391	1128	G>A	Neuroblastoma, susceptibility to, 3 Neoplasm of brain NBLST3 autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA16610897 rs1060500215 RCV000457116	1130	V>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000694609 CA1593964 rs773881309	1133	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1172239019 RCV000538538 CA346463956	1134	Q>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1593962 rs762571775 RCV000647457	1137	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748493584 RCV000527321 CA1593957	1141	D>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1573123548 RCV001020319 CA346463594	1148	A>T	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_063852 CA341488 RCV000019712 rs113994091 RCV000439097 COSM98478	1151	T>M	Neuroblastoma, susceptibility to, 3 NBLST3 autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1057519785 CA16602594 RCV000420784 RCV000437564 COSM97185	1152	L>R	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000417711 CA16602783 rs1057519859 COSM99136	1156	C>Y	lung Non-small cell lung carcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs749951867 RCV001235187	1158	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA1593924 rs145194836 RCV000689555	1161	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA658655647 RCV000552569 rs1553394207	1161	E>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346463074 RCV001020421 rs753670250 RCV001860986	1163	D>H	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA16603123 rs1057520019 COSM28497 VAR_063853 RCV000422585	1166	M>R	NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
rs1553394197 CA346462902 RCV000533103	1170	I>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057519698 RCV000428427 VAR_063854 CA16602371 COSM28498	1171	I>N	NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1057519698 CA346462880 RCV000656371	1171	I>T	Neuroblastoma [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_063855 CA16602370 RCV000425764 COSM28059 rs1057519697	1174	F>C	NBLST3 autonomic_ganglia Neuroblastoma [UniProt, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000201918 rs281864719 COSM28491 CA277834 VAR_063856 RCV000417766	1174	F>I	Neuroblastoma, susceptibility to, 3 NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs281864719 COSM28055 COSM28061 CA277829 RCV000421904 COSM28057 RCV000201883	1174	F>L	kidney Neuroblastoma, susceptibility to, 3 autonomic_ganglia soft_tissue Neuroblastoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs863225281 VAR_063857 COSM28055 CA279586 RCV000201882 COSM28061 RCV000444781 COSM28057 RCV000426846 RCV000435780 RCV000418576	1174	F>L	kidney Neuroblastoma, susceptibility to, 3 Benign Soft Tissue Neoplasm of Uncertain Differentiation autonomic_ganglia Non-small cell lung carcinoma NBLST3; somatic mutation; constitutively activated; retained in the endoplasmic reticulum and Golgi compartments soft_tissue Neuroblastoma Lung adenocarcinoma [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000442440 rs863225281 COSM28055 RCV000201904 COSM28061 CA279616 RCV000427324 COSM28057	1174	F>L	kidney Neuroblastoma, susceptibility to, 3 autonomic_ganglia soft_tissue Neuroblastoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_063858 CA345001 rs281864719 COSM28054 RCV000055894 RCV000434983	1174	F>V	lung Neuroblastoma, susceptibility to, 3 autonomic_ganglia NBLST3; somatic mutation; constitutively activated; retained in the endoplasmic reticulum and Golgi compartments Neuroblastoma [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
CA1593867 RCV000530057 rs774872969	1175	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1553393928 CA346473181 RCV000647395	1176	H>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16610895 RCV000467460 rs1060500229	1177	Q>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1593866 rs56315533 RCV000647383	1181	R>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1034835558 RCV000547093 CA44655607	1181	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000559785 rs971799902 CA44655575	1189	S>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000465456 CA16610701 rs1060500210	1191	P>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs534852056 RCV000647449 CA44655555	1192	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs113994089 RCV000427890 RCV000019711 VAR_063859 CA341486 RCV000422453	1192	R>P	Neuroblastoma, susceptibility to, 3 Neoplasm of brain NBLST3 Neuroblastoma [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000647386 rs534852056 CA1593860	1192	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA16602593 rs1057519784 RCV000424376 COSM99137 RCV000435601	1196	L>M	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA346473045 RCV000531281 rs1400239417	1199	M>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA346473043 RCV000689780 rs1400239417	1199	M>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs200585833 RCV000229337 RCV000573898 COSM317003 CA1593854	1200	A>V	lung Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000443402 rs1057519783 COSM144250 CA16602592 RCV000432713	1202	G>R	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1573120189 RCV001020702 RCV000809242	1203	D>missing	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000565652 rs1553393864 CA346473014	1204	L>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000422435 RCV000444462 rs1057519782 COSM144251 CA16602591	1206	S>Y	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV001020753 COSM327053 RCV000807103 rs769449619 CA1593845	1209	R>*	Neuroblastoma, susceptibility to, 3 large_intestine Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs1573120111 RCV001020754 CA346472980	1210	E>K	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM107739 CA44655498 RCV000647445 rs143790259	1212	R>H	Neuroblastoma, susceptibility to, 3 skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
RCV000546309 CA1593840 rs143790259	1212	R>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs758172315 RCV000570349 CA1593839 COSM138291	1214	R>C	Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs750194005 RCV000572491 CA1593838 RCV000647421	1214	R>H	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1593837 RCV000647448 rs779222532	1215	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA16610770 rs1060500207 RCV000468673	1222	A>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000433441 COSM143842 CA16602369 rs1057519696	1225	D>N	Rhabdomyosarcoma soft_tissue [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs763332339 RCV000647409 CA346471494	1228	H>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs776228721 CA277826 RCV000201876	1229	V>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000569692 CA1593804 RCV000474175 rs200110351	1231	R>Q	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1593805 rs771475772 RCV000535025	1231	R>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001315854 rs750775950	1238	Q>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA279618 COSM98492 RCV000201906 rs863225282	1240	L>V	Neuroblastoma, susceptibility to, 3 autonomic_ganglia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
RCV000547515 rs1553392309 CA346471175	1244	H>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1573108857 RCV001020995 CA346471183	1244	H>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000201887 rs863225283 VAR_063861 COSM28500 RCV000444691 CA279597	1245	F>C	Neuroblastoma, susceptibility to, 3 NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000439786 COSM28492 CA277846 rs281864720 RCV000201924	1245	F>I	Neuroblastoma, susceptibility to, 3 autonomic_ganglia Neuroblastoma [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM28493 COSM28062 rs863225284 RCV000201908 CA279621	1245	F>L	Neuroblastoma, susceptibility to, 3 autonomic_ganglia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM28493 CA16603122 COSM28062 rs281864720 RCV000432633	1245	F>L	autonomic_ganglia Neuroblastoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM28493 COSM28062 rs863225284 CA16602368 RCV000434421	1245	F>L	autonomic_ganglia Neuroblastoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA345003 RCV000426209 COSM28499 rs281864720 RCV000055895 VAR_063862	1245	F>V	Neuroblastoma, susceptibility to, 3 NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs368059424 RCV000572636 RCV000456194 CA1593799 COSM3782190	1248	R>Q	Neuroblastoma, susceptibility to, 3 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000565759 rs1553391522 CA346469879	1249	D>Y	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000560206 CA346469857 rs760315884	1250	I>M	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs113994092 VAR_063863 CA342585	1250	I>T	NBLST3; somatic mutation [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
RCV001295149 rs1669417270	1253	R>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
CA346469796 rs1190225184 RCV001021083	1255	C>F	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000536393 rs1553391515	1257	L>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000647435 CA346469738 rs766988856	1260	P>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000525158 CA346469700 rs1174034094	1263	G>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA346469653 RCV000697937 rs1558614450	1267	K>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA16602590 RCV000432491 RCV000423107 COSM1169707 rs1057519781	1269	G>A	lung Non-small cell lung carcinoma Lung adenocarcinoma [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1348950153 CA346469613 RCV000526501	1271	F>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs770027238 CA1593778 RCV000693546	1272	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV001338468 rs1669414764	1273	M>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs45502292 VAR_041487 CA1593776 RCV000539070	1274	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs543620241 CA44646393 RCV000693511 COSM442798	1275	R>*	Neuroblastoma, susceptibility to, 3 breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
COSM28060 rs113994087 RCV000436534 CA16602804 RCV000418856 VAR_063864	1275	R>L	large_intestine autonomic_ganglia Neuroblastoma observed in neuroblastoma Breast neoplasm [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000423720 CA341482 VAR_063865 RCV001268655 RCV000019709 rs113994087 COSM28056 RCV000432041 RCV000440978	1275	R>Q	Neuroblastoma, susceptibility to, 3 Neoplasm of brain large_intestine autonomic_ganglia NBLST3; constitutively activated; retained in the endoplasmic reticulum and Golgi compartments Neuroblastoma breast Breast neoplasm [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs1573102719 RCV001873341 CA346469552 RCV001021240	1277	I>V	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000201889 COSM28058 rs863225285 CA279600 RCV000421376 VAR_063866	1278	Y>S	Neuroblastoma, susceptibility to, 3 NBLST3; somatic mutation autonomic_ganglia Neuroblastoma [ClinVar, UniProt, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs74716434 RCV000540430 CA1593742 RCV000569836 RCV000318323	1280	A>V	Neuroblastoma, susceptibility to, 3 Neuroblastoma Susceptibility Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000556638 CA346468931 rs1173246434	1289	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA346468843 rs1417330585 RCV000791894	1295	W>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000562466 rs1553390763 CA346468780	1296	M>I	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1669334076 RCV001306528	1301	F>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs749608713 CA1593731 RCV000686239	1302	M>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000532825 rs1553390742 CA346468481	1310	T>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000466294 rs1060500226 CA16610766	1310	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000467117 CA16610886 rs1060500218	1313	W>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1285677926 RCV000696428 CA346466490	1316	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000534151 rs779796155 CA1593707	1320	W>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1372668818 CA346466344 RCV000546762	1323	F>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs758127441 RCV000695800 CA1593706	1324	S>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs540427775 RCV000230663 CA10581961	1328	M>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP
CA346466166 RCV000815520 rs1307066116	1334	S>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000690779 CA346466169 rs1307066116	1334	S>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1469977891 RCV000570452 CA346466061	1340	E>G	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs753763148 CA1593702 RCV000686469	1343	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs573049471 RCV000535513 CA1593699	1347	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV001862194 CA346465832 RCV001021768 rs1352529334	1353	N>K	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1573084525 RCV001021789 CA346465805	1355	P>L	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1593696 RCV000528824 rs774271469	1358	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000575671 rs1215186876 CA346465568 RCV000702196	1360	R>Q	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000647467 CA346465191 rs535864522	1372	D>Y	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP
rs1553387992 CA346465155 RCV000647461	1373	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346465151 RCV000694133 rs1558606110	1373	R>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000459371 CA16610724 rs1060500216	1380	L>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1558606063 RCV000698232 CA346464882	1383	I>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000469354 rs1060500220 CA16610700	1395	T>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000233574 rs878854656 CA10581960	1397	L>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs531490912 RCV000540490 CA1593630	1398	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs143647372 RCV000471219 CA1593626	1400	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000696766 rs757615099 CA1593622	1404	L>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1593623 rs757615099 RCV000553113	1404	L>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA44635242 RCV000524704 rs139086136	1409	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA346463192 RCV000647459 rs1286165795	1409	E>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000231377 rs878854657 CA10581959	1411	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000554432 CA1593612 rs779318085	1413	V>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1553387176 RCV000541841	1414	R>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000694794 VAR_041489 rs55782189 CA1593609	1416	K>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000707175 rs1558604110 CA346463093	1416	K>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_041490 rs56181542 RCV000119983 COSM159021 CA156653 RCV000234168	1419	E>K	Neuroblastoma, susceptibility to, 3 breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000706281 CA44635192 rs200470125	1420	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes dbSNP
rs1472924406 RCV000647397 CA346462963	1421	V>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA346462956 RCV000706213 rs1558604075	1422	P>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346462868 rs1558604058 RCV000689064	1426	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1668950344 RCV001257557	1433	E>missing	Rhabdomyosarcoma [ClinVar]	Yes	ClinVar dbSNP
RCV000470259 rs769694344 CA1593602	1435	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs769694344 RCV000647441 CA346462714	1435	E>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000119975 RCV000306508 rs138827116 RCV000230850	1435	E>missing	Neuroblastoma, susceptibility to, 3 Neuroblastoma Susceptibility [ClinVar]	Yes	ClinVar dbSNP
rs1558604000 RCV000695315 CA346462678	1438	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000530604 rs1553387094 CA346462550	1448	S>F	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs372612147 CA1593586 RCV000555867	1459	A>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000699932 CA346462299 rs1558603894	1460	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001250949 VAR_031042 RCV000119976 RCV000573143 rs1670283 RCV000608829 RCV000590065 CA156632	1461	I>V	Neuroblastoma, susceptibility to, 3 Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000532056 rs374135358 CA1593583	1464	R>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA16610697 RCV000471998 rs1060500213	1464	R>Q	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000544681 CA156635 rs538459690 RCV000119977	1472	E>D	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346462165 rs1174344092 RCV000647482	1473	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1293939080 RCV000647446 CA346462155	1474	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs139039449 CA346462141 RCV000690060 COSM575005	1475	H>Q	lung Neuroblastoma, susceptibility to, 3 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1593574 rs141010693 RCV000469389	1478	M>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346462097 rs1558603789 RCV000690825	1479	A>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1593573 RCV000557198 rs751473124	1482	Q>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000687712 CA1593570 rs556061961	1485	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1593565 RCV000703588 rs747098710	1489	L>W	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_031043 RCV000569094 RCV000605771 COSM1130802 RCV000119978 RCV000586542 rs1881420 CA156638	1491	K>R	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000537937 rs368484630 CA1593558	1494	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000470670 CA1593559 RCV000608346 rs199940609	1494	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA346461089 rs1553386991 RCV000647481	1506	T>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000558555 rs764315254 CA1593550	1508	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA44634868 RCV001307005 rs928177802	1510	W>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA1593547 RCV000690489 rs772430445	1510	W>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000647458 rs374733353 CA1593546	1513	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1668935806 RCV001349489	1522	I>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs1553386968 RCV000549656 CA346460744	1523	A>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000119979 CA156641 rs139437088 RCV000228272	1525	K>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000226483 RCV000486072 rs755556501	1525	K>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
rs1881421 CA156644 RCV000562954 COSM3758201 RCV001250937 RCV000616049 RCV000119980 VAR_031044 RCV000588550	1529	D>E	Neuroblastoma, susceptibility to, 3 Squamous cell lung carcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1593537 rs779663817 RCV000465709	1529	D>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs139185626 CA1593531 RCV000525807	1534	G>E	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV000647419 CA346460614 rs752701859	1536	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000647470 rs1553386937 CA346460597	1538	S>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001862230 rs552439944 CA44634807 RCV001022802	1541	V>A	Neuroblastoma, susceptibility to, 3 Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1174832921 RCV001348396	1542	P>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV000226094 CA10581957 rs878854659	1542	P>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000533823 CA346460554 rs1553386918	1545	V>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1215807713 CA346460540 RCV000647468	1548	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000482658 rs199646095 CA1593523 RCV000462396	1549	R>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs886055928 CA10613134 RCV000374369	1550	L>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000647410 rs1553386898 CA346460512	1553	A>G	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA346460464 rs1209157216 RCV000647428	1561	S>L	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1558603299 CA346460441 RCV000695730	1566	M>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs763613910 CA1593508 RCV000458834	1568	E>A	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs745349865 CA1593503 RCV000702351	1575	R>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs745349865 RCV000691990 CA1593502	1575	R>P	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs200829376 CA1593501 RCV000686256	1577	F>V	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000552359 rs370947313 CA1593497	1580	G>R	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000647426 rs1553386863 CA346460338	1582	V>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000647469 rs751677905 CA1593494	1583	N>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000541092 CA346460302 rs1396711236	1587	Q>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs190639819 RCV000647390 CA44634667	1590	G>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
RCV000472979 RCV000119981 VAR_055988 CA156647 rs1881423	1599	P>H	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373037272 CA1593480 RCV000470897	1599	P>S	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376702277 RCV000475870 CA1593478	1601	A>T	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000474334 CA1593472 rs753750497	1604	Y>*	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1593473 RCV000229633 rs372440265	1604	Y>C	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000647476 rs754214919 CA1593470	1605	E>K	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA346460096 RCV001023114 rs57917930	1609	L>V	Hereditary cancer-predisposing syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1558603069 RCV000706011	1611	S>missing	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinVar dbSNP
RCV001856865 RCV000478470 rs78174819 CA1593465	1612	K>N	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000457300 rs747978928 CA1593462	1615	M>I	Neuroblastoma, susceptibility to, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1459946897 CA346590867	2	G>A		No	ClinGen TOPMed gnomAD
rs1459946897 CA346590868	2	G>E		No	ClinGen TOPMed gnomAD
CA346590858 rs1223034189	4	I>V		No	ClinGen gnomAD
CA346590850 rs1272214012	5	G>W		No	ClinGen TOPMed gnomAD
CA1595076 rs757811844	7	L>M		No	ClinGen ExAC
CA346590834 rs1351584977	7	L>R		No	ClinGen TOPMed
CA1595073 rs764671855	9	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1335279051 CA346590825	9	L>V		No	ClinGen gnomAD
rs763976087 CA1595071	10	L>V		No	ClinGen ExAC gnomAD
CA1595068 rs775832910	11	P>S		No	ClinGen ExAC
CA1595069 rs775832910	11	P>T		No	ClinGen ExAC
rs1165737526 CA346590809	12	L>P		No	ClinGen gnomAD
CA1595063 rs749730757	13	L>M		No	ClinGen ExAC
rs770134645 CA1595062	15	S>F		No	ClinGen ExAC TOPMed gnomAD
CA1595060 rs542229113	16	T>K		No	ClinGen 1000Genomes ExAC gnomAD
rs542229113 CA1595059	16	T>M		No	ClinGen 1000Genomes ExAC gnomAD
CA346590793 rs1572504096	16	T>P		No	ClinGen Ensembl
rs1203105916 CA346590783	18	A>P		No	ClinGen gnomAD
rs1057384991 CA45004789	19	V>M		No	ClinGen TOPMed
CA346590770 rs1572504071	20	G>D		No	ClinGen Ensembl
CA346590762 rs1297347468	21	S>F		No	ClinGen gnomAD
rs1275224090 CA346590766	21	S>P		No	ClinGen gnomAD
rs939430980 CA45004787	23	M>I		No	ClinGen Ensembl
CA45004788 rs987433112	23	M>V		No	ClinGen TOPMed
rs753812499 CA1595054	25	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753812499 CA346590739	25	T>N		No	ClinGen ExAC TOPMed gnomAD
CA1595052 rs755942639	26	G>D		No	ClinGen ExAC gnomAD
CA346590732 rs1469224885	27	Q>E		No	ClinGen TOPMed
rs752501243 CA1595051	27	Q>R		No	ClinGen ExAC gnomAD
rs1326321652 CA346590721	29	A>T		No	ClinGen gnomAD
CA1595050 rs573276657	32	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs759748510 CA1595049	32	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1037134870 CA45004785	33	A>G		No	ClinGen Ensembl
CA346590701 rs1384517795	33	A>S		No	ClinGen gnomAD
rs1384517795 CA346590699	33	A>T		No	ClinGen gnomAD
CA346590691 rs1572503974	34	A>V		No	ClinGen Ensembl
CA1595047 rs766479433	35	G>E		No	ClinGen ExAC gnomAD
rs773691688 CA346590683	36	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA346590676 rs1437432300	37	P>L		No	ClinGen gnomAD
CA1595045 rs371679329	40	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs200212200 CA1595043	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1572503919 CA346590658	41	R>Q		No	ClinGen Ensembl
rs745527297 CA1595041	42	E>G		No	ClinGen ExAC gnomAD
CA45004784 rs78378278	43	P>L		No	ClinGen Ensembl
rs1440884475 CA346590648	43	P>T		No	ClinGen gnomAD
rs1304641292 CA16040184	44	L>R		No	ClinGen TOPMed gnomAD
CA1595039 rs770542891	46	Y>C		No	ClinGen ExAC gnomAD
rs541315214 CA346590620	47	S>W		No	ClinGen 1000Genomes ExAC gnomAD
rs1558550140 CA346590616	48	R>H		No	ClinGen Ensembl
rs1269716369 CA346590597	51	R>M		No	ClinGen gnomAD
rs754798392 CA1595033	53	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1023566110 CA45004782	54	L>M		No	ClinGen TOPMed
rs1268569052 CA346590575	55	A>T		No	ClinGen gnomAD
CA346590570 rs1217013970	55	A>V		No	ClinGen gnomAD
CA45004781 rs1031804606	60	V>L		No	ClinGen Ensembl
CA1595028 rs765309299	61	P>L		No	ClinGen ExAC gnomAD
CA346590536 rs1284647992	61	P>T		No	ClinGen gnomAD
CA346590526 rs1572503765	62	S>L		No	ClinGen Ensembl
CA346590525 rs1203186061	63	L>V		No	ClinGen gnomAD
CA346590509 rs1343353214	65	R>C		No	ClinGen TOPMed gnomAD
rs896359840 CA45004779	65	R>L		No	ClinGen TOPMed gnomAD
CA346590511 rs1343353214	65	R>S		No	ClinGen TOPMed gnomAD
CA346590493 rs1434101448	67	Y>*		No	ClinGen Ensembl
rs1414978905 CA346590492	68	A>P		No	ClinGen TOPMed gnomAD
rs1052259770 CA346590486	69	R>G		No	ClinGen TOPMed
CA45004778 rs1052259770	69	R>W		No	ClinGen TOPMed
CA1595024 rs760987652	70	D>G		No	ClinGen ExAC gnomAD
CA346590483 rs1365620880	70	D>N		No	ClinGen TOPMed
CA346590453 rs1240730661	75	P>S		No	ClinGen gnomAD
CA346590448 rs1215616065	76	S>P		No	ClinGen gnomAD
CA1595021 rs748978993	78	S>L		No	ClinGen ExAC TOPMed gnomAD
CA45004777 rs1022670397	79	E>D		No	ClinGen TOPMed
CA1595020 rs777351909	79	E>K		No	ClinGen ExAC gnomAD
rs769440812 CA346590404	83	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1595018 rs748100651	85	P>L		No	ClinGen ExAC gnomAD
rs1043811061 CA45004776	85	P>S		No	ClinGen TOPMed
CA346590385 rs878854654	86	E>D		No	ClinGen gnomAD
CA346590389 rs1448609696	86	E>K		No	ClinGen gnomAD
rs754768477 CA1595016	88	R>S		No	ClinGen ExAC gnomAD
rs1468357046 CA346590373	89	G>S		No	ClinGen gnomAD
CA1595013 VAR_041477 rs34617074	90	S>L		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1245586050 CA346590327	96	A>V		No	ClinGen gnomAD
rs765290844 CA346590322	97	P>L		No	ClinGen ExAC TOPMed gnomAD
CA346590324 rs1331610896	97	P>S		No	ClinGen gnomAD
rs1165577510 CA346590315	99	L>V		No	ClinGen TOPMed
CA346590299 rs1305432880	101	L>F		No	ClinGen gnomAD
CA346590290 rs1321334043	103	G>W		No	ClinGen TOPMed
rs576431612 CA346590286	104	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772569032 CA1595004	105	A>V		No	ClinGen ExAC gnomAD
rs1037485859 CA45004772	106	P>L		No	ClinGen Ensembl
CA346590267 rs762635291	107	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1338077965 CA346590266	108	V>I		No	ClinGen gnomAD
rs941489195 CA45004771	109	S>C		No	ClinGen gnomAD
CA346590259 rs1572503443	109	S>P		No	ClinGen Ensembl
CA346590255 rs1572503431	110	W>R		No	ClinGen Ensembl
CA346590240 rs1060500227	112	A>T		No	ClinGen gnomAD
rs748952373 CA1594998	113	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1479433859 CA346590233	113	G>D		No	ClinGen gnomAD
rs748952373 CA45004769	113	G>S		No	ClinGen ExAC TOPMed gnomAD
CA346590226 rs1190182265	114	S>L		No	ClinGen TOPMed
CA45004768 rs1023682229	115	P>A		No	ClinGen TOPMed gnomAD
CA346590221 rs1222939884	115	P>L		No	ClinGen gnomAD
CA346590217 rs1572503383	116	A>V		No	ClinGen Ensembl
CA346590211 rs201290745	117	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1289331589 CA346590212	117	P>S		No	ClinGen gnomAD
CA346590208 rs1383948379	118	A>P		No	ClinGen TOPMed
rs1572503350 CA346590203	119	E>K		No	ClinGen Ensembl
rs1371439281 CA346590196	120	A>T		No	ClinGen gnomAD
CA346590191 rs1572503333	120	A>V		No	ClinGen Ensembl
rs779147984 CA346590188	121	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs746089013 CA346590189	121	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757339720 CA1594992	123	L>V		No	ClinGen ExAC gnomAD
CA346590176 rs1364916594	124	S>P		No	ClinGen gnomAD
rs764265048 CA346590161	126	V>G		No	ClinGen ExAC TOPMed gnomAD
CA1594991 rs753812162	126	V>L		No	ClinGen ExAC TOPMed gnomAD
CA45004764 rs753812162	126	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760041708 CA346590145	129	G>A		No	ClinGen ExAC TOPMed gnomAD
rs760041708 CA1594987	129	G>D		No	ClinGen ExAC TOPMed gnomAD
CA346590130 rs1262491330 COSM1531761	132	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1262491330 CA346590132	132	V>M		No	ClinGen TOPMed gnomAD
CA1594981 rs768229646	133	R>H		No	ClinGen ExAC gnomAD
CA1594979 rs775475622	134	K>Q		No	ClinGen ExAC gnomAD
CA346590109 rs1386626390	136	R>W		No	ClinGen gnomAD
rs757382067 CA1594976	137	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1594974 rs749530596	139	K>E		No	ClinGen ExAC TOPMed gnomAD
CA45004761 rs777656583	143	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA346590053 rs1305698643	145	L>P		No	ClinGen TOPMed
CA1594971 rs753249468	147	E>D		No	ClinGen ExAC gnomAD
rs756273623 CA1594972	147	E>K		No	ClinGen ExAC gnomAD
rs756273623 CA346590045	147	E>Q		No	ClinGen ExAC gnomAD
rs1331266292 CA346590034	148	E>A		No	ClinGen TOPMed
CA346590035 rs1331266292	148	E>V		No	ClinGen TOPMed
rs991128318 CA45004758	149	A>T		No	ClinGen Ensembl
CA346590026 rs1203267790	150	I>V		No	ClinGen gnomAD
rs1485515006 CA346590005	153	G>R		No	ClinGen gnomAD
rs1485515006 CA346590004	153	G>S		No	ClinGen gnomAD
rs889830682 CA45004757	154	C>G		No	ClinGen TOPMed
CA346589991 rs1206463887	155	V>D		No	ClinGen TOPMed
CA1594968 rs751920643	155	V>L		No	ClinGen ExAC gnomAD
CA1594967 rs761318889	156	G>W		No	ClinGen ExAC TOPMed gnomAD
CA1594964 rs74774946	157	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA346589984 rs74774946	157	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs536284304 CA1594959	158	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs367875912 CA1594958	159	G>R		No	ClinGen ESP ExAC
CA1594956 rs749455860	162	A>T		No	ClinGen ExAC gnomAD
CA346589953 rs1572503074	162	A>V		No	ClinGen Ensembl
rs1572503059 CA346589948	163	V>G		No	ClinGen Ensembl
rs1470709197 CA346589945	164	G>V		No	ClinGen gnomAD
rs1403424181 CA346589940	165	L>Q		No	ClinGen gnomAD
CA346589928 rs1572503024	167	Q>P		No	ClinGen Ensembl
rs1374532256 CA346589923	168	F>L		No	ClinGen gnomAD
rs1049819210 CA45004753	168	F>L		No	ClinGen gnomAD
rs932619554 CA45004752	169	N>H		No	ClinGen Ensembl
rs758868024 CA1594949	170	L>F		No	ClinGen ExAC gnomAD
CA1594948 rs753403262	171	S>N		No	ClinGen ExAC gnomAD
CA346589902 rs534035801	171	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346589872 rs1365096158	176	W>R		No	ClinGen gnomAD
CA45004751 rs62129830	179	R>C		No	ClinGen Ensembl
CA346589846 rs1316424431 COSM1182534	179	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346589837 rs1572502948	180	Q>H		No	ClinGen Ensembl
CA346589829 rs1229550831	182	E>K		No	ClinGen TOPMed
rs759410953 CA1594944	183	G>R		No	ClinGen ExAC
CA346589818 rs1060500223	183	G>V		No	ClinGen TOPMed gnomAD
rs1379890469 CA346589816	184	R>*		No	ClinGen gnomAD
rs774403380 CA1594943	186	R>K		No	ClinGen ExAC gnomAD
rs1306212162 CA346589792 COSM1182533	188	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs770625956 CA1594942 COSM1752527	188	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1572502891 CA346589781	190	M>T		No	ClinGen Ensembl
CA45004749 rs901176586	190	M>V		No	ClinGen TOPMed
rs1165932498 CA346589771	191	P>L		No	ClinGen gnomAD
rs200564831 CA45004748	192	E>G		No	ClinGen 1000Genomes
CA1594938 rs138296547	195	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442742511 CA346589744 COSM1020031	195	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1235761698 CA346589740	196	S>L		No	ClinGen gnomAD
rs1275464904 CA346589727	198	V>E		No	ClinGen gnomAD
CA1594936 rs747517546	199	G>C		No	ClinGen ExAC gnomAD
rs1292996434 CA346589720	199	G>V		No	ClinGen gnomAD
CA346589719 rs1558549445	200	R>G		No	ClinGen Ensembl
rs978946990 CA45004745	200	R>K		No	ClinGen Ensembl
CA346589690 rs1426655261	204	L>P		No	ClinGen TOPMed
CA346589682 rs141093002	206	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337143722 COSM1020030 CA346589678	206	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs372226787 CA45004743	208	I>T		No	ClinGen ESP TOPMed gnomAD
rs1365924896 CA346589663	209	R>C		No	ClinGen gnomAD
CA346589659 rs755697363	210	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1382146302 CA346589655	210	A>V		No	ClinGen TOPMed
rs1413033661 CA346589651	211	S>F		No	ClinGen gnomAD
rs1022137238 CA45004742	212	Q>H		No	ClinGen TOPMed
rs766999851 CA1594929	214	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1035402110 CA45004741 COSM1531762	216	L>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1482864809 CA346589619	217	F>L		No	ClinGen gnomAD
CA346589618 rs1482864809	217	F>V		No	ClinGen gnomAD
CA1594927 rs751419585	218	Q>R		No	ClinGen ExAC gnomAD
CA346589596 rs1484797934	220	F>L		No	ClinGen TOPMed
CA1594900 rs775574527	223	G>D		No	ClinGen ExAC gnomAD
CA346587855 rs1407129567	224	H>Y		No	ClinGen TOPMed
COSM1407685 rs1456830388 CA346587848	225	S>G	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346587815 rs1447260360	229	S>L		No	ClinGen TOPMed
rs1280050120 CA346587813	230	P>S		No	ClinGen TOPMed
CA346587804 rs1558457415	232	N>H		No	ClinGen Ensembl
rs774904862 CA1594897	232	N>T		No	ClinGen ExAC TOPMed gnomAD
CA1594894 rs749700096	233	M>T		No	ClinGen ExAC gnomAD
CA1594895 rs771254732	233	M>V		No	ClinGen ExAC gnomAD
rs948241251 CA44979599	234	P>L		No	ClinGen TOPMed
CA1594890 rs779555113	236	P>L		No	ClinGen ExAC gnomAD
CA1594889 rs757916299	237	S>P		No	ClinGen ExAC TOPMed gnomAD
CA346587766 rs1489798954	238	P>L		No	ClinGen gnomAD
CA1594886 rs146281095	241	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146281095 CA1594887	241	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1573580119 CA346587717	246	T>P		No	ClinGen Ensembl
CA346587696 rs1573580109	248	I>M		No	ClinGen Ensembl
CA1594881 rs767630195	250	K>E		No	ClinGen ExAC gnomAD
rs1573580102 COSM3748735 CA346587675	251	D>A	stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
CA44979598 rs868525145	252	S>Y		No	ClinGen Ensembl
CA1594880 rs759574066	253	F>S		No	ClinGen ExAC gnomAD
rs1573580087 CA346587650	255	F>S		No	ClinGen Ensembl
CA1594875 rs770063749	258	H>P		No	ClinGen ExAC gnomAD
rs138686378 CA1594871	259	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1233157268 CA346587620	260	S>R		No	ClinGen gnomAD
CA1594869 rs375097381	261	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs755930043 CA1594867	262	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1361568932 CA346587609	263	G>S		No	ClinGen gnomAD
CA1594846 rs543234312	265	E>*		No	ClinGen 1000Genomes ExAC gnomAD
CA44976852 rs543234312	265	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA346587127 rs1160717437	267	S>R		No	ClinGen gnomAD
CA44976851 rs575893409	270	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346587087 rs1199869067	272	C>Y		No	ClinGen gnomAD
rs758537157 CA1594843	273	E>D		No	ClinGen ExAC gnomAD
CA346587068 rs1451451993	275	E>A		No	ClinGen TOPMed
CA44976850 rs924625340	275	E>D		No	ClinGen Ensembl
CA346587048 rs199703254	278	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762417760 CA1594840	278	P>S		No	ClinGen ExAC gnomAD
CA346587041 rs1287899598	280	L>M		No	ClinGen gnomAD
CA1594838 rs764532876	280	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1386680783 CA346587021	283	L>V		No	ClinGen gnomAD
rs949341617 CA44976849	284	R>S		No	ClinGen TOPMed
CA346587015 rs1199266892	284	R>W		No	ClinGen gnomAD
CA44976847 rs112782816	289	S>F		No	ClinGen Ensembl
rs748854412 CA346586963	291	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1594832 rs201750304	292	R>G		No	ClinGen ExAC TOPMed gnomAD
CA44976846 rs149145987	292	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56077855 VAR_041479 CA1594828	296	E>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1594824 rs765367554	299	S>P		No	ClinGen ExAC gnomAD
CA1594823 rs757648452	299	S>Y		No	ClinGen ExAC gnomAD
CA346586917 rs1254596043	300	Q>E		No	ClinGen gnomAD
CA346586911 rs1233069820	300	Q>H		No	ClinGen TOPMed gnomAD
rs1233069820 CA346586910	300	Q>H		No	ClinGen TOPMed gnomAD
rs372244228 CA1594821	301	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1594822 rs754427541	301	M>L		No	ClinGen ExAC gnomAD
CA1594820 rs372244228	301	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA346586899 rs1367067525	302	D>G		No	ClinGen TOPMed
CA346586902 rs1275855734	302	D>H		No	ClinGen gnomAD
rs774123293 CA1594819	305	D>G		No	ClinGen ExAC TOPMed gnomAD
CA44976844 rs879113112	306	G>R		No	ClinGen Ensembl
rs772529808 CA1594816	307	P>L		No	ClinGen ExAC gnomAD
rs748017801 CA1594813	309	A>E		No	ClinGen ExAC gnomAD
rs150966028 CA346586850	311	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149837139 CA1594811	311	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772219619 CA1594809	312	S>Y		No	ClinGen ExAC gnomAD
CA346586820 rs1254406721	316	P>T		No	ClinGen TOPMed gnomAD
rs770893847 CA1594789	318	G>A		No	ClinGen ExAC gnomAD
rs770893847 CA1594790	318	G>V		No	ClinGen ExAC gnomAD
CA44957102 rs538843723	322	L>F		No	ClinGen Ensembl
CA346587561 rs1403569967	323	L>F		No	ClinGen gnomAD
rs781771386 CA44957101	324	N>D		No	ClinGen gnomAD
CA1594787 rs778028653	326	S>L		No	ClinGen ExAC gnomAD
CA1594785 rs556138942	328	D>G		No	ClinGen ExAC TOPMed gnomAD
rs144135148 CA44957100 COSM110364	329	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs781677582 CA1594784	330	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1450440625 CA346587475	336	P>L		No	ClinGen gnomAD
rs886726765 CA44957098	337	W>R		No	ClinGen Ensembl
CA1594783 rs755433685	341	S>G		No	ClinGen ExAC gnomAD
CA44957097 rs973756393	342	S>R		No	ClinGen TOPMed gnomAD
CA1594781 rs147640694	344	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346587418 rs1286011012	344	H>N		No	ClinGen gnomAD
CA1594780 rs147640694	344	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs981203904 CA44957095	346	T>I		No	ClinGen TOPMed
rs1434183411 CA346587397	347	L>R		No	ClinGen gnomAD
rs760596486 CA1594777	348	A>D		No	ClinGen ExAC TOPMed gnomAD
rs370848188 CA1594775	349	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370848188 CA346587392	349	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs759426382 CA1594774	350	S>L		No	ClinGen ExAC TOPMed gnomAD
CA346587359 rs1490289892	354	H>N		No	ClinGen TOPMed
CA346587304 rs1265733958	362	I>T		No	ClinGen gnomAD
CA346587307 rs1465809492	362	I>V		No	ClinGen gnomAD
CA346587293 rs1191984132	364	Q>*		No	ClinGen TOPMed
rs1428035192 CA346587292	364	Q>L		No	ClinGen Ensembl
CA346587275 rs1312459820	367	P>S		No	ClinGen gnomAD
CA44957090 rs879248560	368	H>Y		No	ClinGen Ensembl
rs541741686 CA44957088	369	N>D		No	ClinGen Ensembl
rs753549939 CA1594764	372	A>T		No	ClinGen ExAC gnomAD
CA346587239 rs1318677209	373	R>I		No	ClinGen gnomAD
CA44957087 rs929806482	375	I>N		No	ClinGen TOPMed
rs966612700 CA44957086	376	L>P		No	ClinGen TOPMed gnomAD
CA346587216 rs966612700	376	L>R		No	ClinGen TOPMed gnomAD
CA44957085 rs989538225	378	M>I		No	ClinGen TOPMed gnomAD
CA346587200 rs1424913232	379	P>S		No	ClinGen gnomAD
CA346587190 rs1451908328	381	P>T		No	ClinGen gnomAD
rs1217100351 CA346587179	382	G>E		No	ClinGen TOPMed
CA346587173 rs767442144	383	K>N		No	ClinGen ExAC TOPMed gnomAD
CA346587171 rs1243305009	384	H>Y		No	ClinGen TOPMed
CA1594758 rs774127733	385	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1594733 rs376604564	386	W>R		No	ClinGen ESP ExAC gnomAD
rs768680011 CA1594732	391	G>E		No	ClinGen ExAC TOPMed gnomAD
rs761244779 CA1594731	392	R>G		No	ClinGen ExAC gnomAD
CA1594730 rs775901956	393	I>V		No	ClinGen ExAC gnomAD
COSM184821 CA44939739 rs775514690	394	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346585422 rs769910087	395	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779282861 CA346585427	395	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1355870666 CA346585419	396	P>T		No	ClinGen TOPMed
CA346585400 rs368122868	397	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM20713 rs865931787 CA44939738	401	R>*	lung ovary large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs188859061 CA1594721 COSM50278	401	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1267269954 CA346585327	403	A>T		No	ClinGen gnomAD
CA44939736 rs4363989	405	E>*		No	ClinGen Ensembl
rs4363989 CA44939737	405	E>K		No	ClinGen Ensembl
rs765139446 CA1594719	407	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1348960950 CA346585253	408	S>C		No	ClinGen TOPMed gnomAD
rs374842018 CA1594717	409	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374842018 CA346585250	409	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760717114 CA1594715	410	G>E		No	ClinGen ExAC gnomAD
rs764207516 CA1594716	410	G>R		No	ClinGen ExAC TOPMed gnomAD
CA346585220 rs760717114	410	G>V		No	ClinGen ExAC gnomAD
CA346585191 rs1388736375	412	R>L		No	ClinGen TOPMed gnomAD
rs1477421090 CA346585190	413	S>G		No	ClinGen TOPMed
rs1160873517 CA346585184	413	S>N		No	ClinGen gnomAD
rs557479660 CA44939734	415	S>C		No	ClinGen gnomAD
rs772529363 CA1594713	416	A>E		No	ClinGen ExAC gnomAD
rs1434832173 CA346585137	418	D>H		No	ClinGen gnomAD
rs1265258234 CA346585119	419	F>V		No	ClinGen gnomAD
CA346585081 COSM184820 rs1267142388	421	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346585059 rs1370402590	423	K>N		No	ClinGen TOPMed
CA1594709 rs747832091	424	N>K		No	ClinGen ExAC gnomAD
CA346585038 rs1318224093 COSM1020025	425	C>Y	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1558300778 CA346585025	426	S>G		No	ClinGen Ensembl
CA1594706 rs746451923	427	E>D		No	ClinGen ExAC gnomAD
CA44664876 rs372472978	428	G>E		No	ClinGen ESP TOPMed gnomAD
rs1573303300 CA346584995	428	G>R		No	ClinGen Ensembl
rs372472978 CA346474620	428	G>V		No	ClinGen ESP TOPMed gnomAD
rs775129242 CA1594688	429	T>I		No	ClinGen ExAC gnomAD
rs745772939 CA1594686	436	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346474501 COSM268646 rs1430324218	436	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1594685 rs779046707	437	L>P		No	ClinGen ExAC gnomAD
rs777630523 CA1594682	448	V>I		No	ClinGen ExAC gnomAD
rs199970780 CA1594680	451	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA346474294 rs1277320933	452	G>R		No	ClinGen gnomAD
rs766818130 CA1594677	454	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1594678 rs755089158	454	A>T		No	ClinGen ExAC gnomAD
rs1466204048 CA346474198	459	Q>E		No	ClinGen TOPMed
CA1594673 rs149198543	460	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425067580 CA346474186	460	D>N		No	ClinGen gnomAD
CA346474141 rs1410138765	463	Q>P		No	ClinGen gnomAD
CA1594672 rs55706535	464	G>*		No	ClinGen ExAC TOPMed gnomAD
rs771689864 CA1594670	464	G>V		No	ClinGen ExAC gnomAD
CA346474106 rs1573239187	468	S>N		No	ClinGen Ensembl
rs929446793 CA44664781	469	Q>L		No	ClinGen Ensembl
rs749263944 CA346474077	472	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747244044 CA1594643	474	L>Q		No	ClinGen ExAC gnomAD
CA44660663 rs984951289	476	V>L		No	ClinGen Ensembl
CA346472710 rs984951289	476	V>M		No	ClinGen Ensembl
CA1594642 rs758547033	480	C>Y		No	ClinGen ExAC gnomAD
rs1174777663 CA346472613	482	F>L		No	ClinGen gnomAD
rs1453170969 CA346472608	483	E>Q		No	ClinGen gnomAD
CA346472594 rs1393921001	484	D>Y		No	ClinGen gnomAD
rs1214639256 CA346472494	490	T>A		No	ClinGen gnomAD
CA346472467 rs1573227409	491	Q>H		No	ClinGen Ensembl
CA346472473 rs1573227417	491	Q>P		No	ClinGen Ensembl
rs267599336 CA44660639	495	S>L		No	ClinGen Ensembl
rs1231969163 CA346472412	496	P>H		No	ClinGen TOPMed gnomAD
CA346472408 COSM48231 rs1231969163	496	P>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA346472418 rs1280504351	496	P>T		No	ClinGen gnomAD
CA1594638 rs2293564	500	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346472356 rs2293564	500	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302743183 CA346472340	501	W>*		No	ClinGen gnomAD
rs759251908 CA346472316	503	V>A		No	ClinGen ExAC gnomAD
CA1594636 rs759251908	503	V>G		No	ClinGen ExAC gnomAD
CA1594634 rs765773161	506	L>V		No	ClinGen ExAC TOPMed gnomAD
CA346472273 rs1433395369	507	K>N		No	ClinGen gnomAD
CA44660622 rs995433670	508	D>V		No	ClinGen TOPMed gnomAD
CA346472255 rs772615782	509	A>P		No	ClinGen ExAC gnomAD
rs772615782 CA1594632	509	A>T		No	ClinGen ExAC gnomAD
CA346472247 rs201449759	510	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768496422 CA1594628	511	F>L		No	ClinGen ExAC gnomAD
rs1558669697 CA346472225	512	Q>K		No	ClinGen Ensembl
rs747203243 CA1594627	512	Q>R		No	ClinGen ExAC gnomAD
rs1485228012 CA346472183	515	Q>E		No	ClinGen gnomAD
CA346471487 rs367674546	517	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs772274018 CA1594608	521	L>F		No	ClinGen ExAC gnomAD
rs1573223126 CA346471368	522	S>C		No	ClinGen Ensembl
rs771205105 CA1594605	524	T>S		No	ClinGen ExAC gnomAD
CA1594603 rs202106175	526	V>D		No	ClinGen 1000Genomes ExAC gnomAD
CA1594604 rs749779880	526	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1594601 rs748501104	527	P>A		No	ClinGen ExAC gnomAD
rs781414872 CA1594600	527	P>R		No	ClinGen ExAC gnomAD
CA1594602 rs748501104	527	P>S		No	ClinGen ExAC gnomAD
rs756811472 CA1594596	528	A>V		No	ClinGen ExAC gnomAD
CA346471079 rs1573223031	534	V>A		No	ClinGen Ensembl
CA346471065 rs1241703232	535	T>S		No	ClinGen gnomAD
rs1308199300 CA346470925	543	I>V		No	ClinGen TOPMed gnomAD
CA1594586 rs147033307	545	S>N		No	ClinGen ESP ExAC TOPMed
CA346470805 rs1263523427	547	P>L		No	ClinGen TOPMed
CA346470779 rs1439699269	548	C>Y		No	ClinGen gnomAD
CA346470761 rs1388997240	549	E>K		No	ClinGen TOPMed gnomAD
CA346470757 rs1388997240	549	E>Q		No	ClinGen TOPMed gnomAD
rs1205245551 CA346466691	552	M>I		No	ClinGen TOPMed
rs1573203754 CA346466663	554	W>*		No	ClinGen Ensembl
rs769229444 CA1594565	555	L>F		No	ClinGen ExAC gnomAD
rs747298157 CA1594564	556	I>T		No	ClinGen ExAC gnomAD
rs200364883 COSM225462 CA1594561	557	R>C	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA346466562 rs1486865549	562	G>R		No	ClinGen gnomAD
rs565743321 CA1594559	563	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780939762 CA346466515	564	V>L		No	ClinGen ExAC gnomAD
rs780939762 CA346466509	564	V>L		No	ClinGen ExAC gnomAD
CA1594557 rs780939762	564	V>M		No	ClinGen ExAC gnomAD
CA346466409 rs1381135955	570	E>*		No	ClinGen gnomAD
rs750740789 CA1594551	576	E>*		No	ClinGen ExAC TOPMed gnomAD
CA346466287 rs1353338867	576	E>G		No	ClinGen gnomAD
rs1430381834 CA346466274	577	Q>E		No	ClinGen TOPMed gnomAD
CA346466236 rs1258283302	579	R>K		No	ClinGen gnomAD
rs373833989 CA1594549	579	R>S		No	ClinGen ESP ExAC gnomAD
rs1460645072 CA346466214	580	M>I		No	ClinGen TOPMed gnomAD
rs776805270 CA1594548	580	M>K		No	ClinGen ExAC gnomAD
rs768980274 CA1594547	581	V>A		No	ClinGen ExAC gnomAD
rs772496459 CA1594543 RCV000478482 COSM166961	585	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
CA346466117 rs1046338903	586	A>D		No	ClinGen TOPMed gnomAD
CA44642934 rs75158395	586	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs75158395 CA346466122	586	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1338200771 CA346466101	587	Y>F		No	ClinGen gnomAD
rs780754371 CA1594538	590	L>M		No	ClinGen ExAC gnomAD
rs1573203576 CA346465966	594	Q>H		No	ClinGen Ensembl
rs1273699854 CA346465927	596	M>I		No	ClinGen TOPMed
CA346465935 rs1410352488	596	M>V		No	ClinGen gnomAD
CA346465909 rs747000305	597	V>G		No	ClinGen ExAC gnomAD
CA346465918 rs1287192859	597	V>L		No	ClinGen gnomAD
CA346465891 rs942266375	598	L>F		No	ClinGen TOPMed gnomAD
CA44642860 rs753871185	602	D>E		No	ClinGen gnomAD
rs1165866210 CA346465836	602	D>N		No	ClinGen gnomAD
rs754157689 CA1594513	606	R>S		No	ClinGen ExAC gnomAD
CA1594512 rs764052586	609	L>R		No	ClinGen ExAC gnomAD
CA346480023 rs1302907379	611	M>I		No	ClinGen TOPMed gnomAD
rs1431784023 CA346480018	612	V>F		No	ClinGen gnomAD
CA44665751 rs61744521	613	A>P		No	ClinGen ExAC gnomAD
rs61744521 CA1594509	613	A>T		No	ClinGen ExAC gnomAD
CA1594507 rs774517608	615	W>G		No	ClinGen ExAC gnomAD
COSM1020021 CA346479992 rs1451987798	616	G>*	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA1594506 rs766821017	618	G>E		No	ClinGen ExAC gnomAD
CA346479980 rs1573183907 COSM1690375	618	G>R	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs768256091 CA1594503	623	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760213029 CA1594502	625	F>S		No	ClinGen ExAC gnomAD
rs545536286 CA44665682	626	D>G		No	ClinGen Ensembl
CA44665680 rs1025380501	627	N>S		No	ClinGen Ensembl
rs775145742 CA1594501	628	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1345759462 CA346479905	630	I>V		No	ClinGen gnomAD
CA1594500 rs772079919	636	L>P		No	ClinGen ExAC gnomAD
rs1573183673 CA346479832	639	S>G		No	ClinGen Ensembl
CA346479823 rs144453491	640	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868425819 CA44665518	640	G>E		No	ClinGen Ensembl
rs1352281254 CA346479809	642	D>A		No	ClinGen gnomAD
CA346479812 rs1573183654	642	D>N		No	ClinGen Ensembl
CA1594481 rs774398992	644	I>S		No	ClinGen ExAC gnomAD
rs1436899331 CA346479795	644	I>V		No	ClinGen TOPMed
CA1594480 rs770797778	645	L>V		No	ClinGen ExAC gnomAD
CA346479783 rs1311437200	646	Q>P		No	ClinGen TOPMed
rs769942064 CA1594477	648	T>A		No	ClinGen ExAC gnomAD
rs116202066 CA156599	648	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346479759 rs1178904580	650	P>T		No	ClinGen gnomAD
rs781241903 CA346479750	651	K>R		No	ClinGen ExAC gnomAD
CA1594476 rs781241903	651	K>T		No	ClinGen ExAC gnomAD
CA346479736 rs1231293974	653	R>S		No	ClinGen gnomAD
rs267599335 CA44665492	655	L>R		No	ClinGen Ensembl
rs780562062 CA1594473	659	N>K		No	ClinGen ExAC TOPMed gnomAD
CA44665475 rs980989671	659	N>S		No	ClinGen TOPMed gnomAD
rs1321508395 CA346479693	660	P>A		No	ClinGen gnomAD
rs1308274244 CA346479688	661	N>D		No	ClinGen gnomAD
CA1594470 rs557768696	663	E>K		No	ClinGen 1000Genomes ExAC gnomAD
COSM108157 rs138534542 CA44665441	666	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
COSM371377 CA1594468 rs752439739	666	P>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
COSM1690374 CA346479645 rs1208550472	668	E>K	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA44665428 rs149640902	669	N>S		No	ClinGen ESP TOPMed
CA44665418 rs145780832	671	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762808842 CA1594463	673	Q>P		No	ClinGen ExAC
CA44665377 rs892131322	678	D>H		No	ClinGen TOPMed gnomAD
rs1313368016 CA346477256	682	H>N		No	ClinGen gnomAD
rs1416585203 CA346477231	683	W>C		No	ClinGen gnomAD
rs761545025 CA346477218	685	F>L		No	ClinGen ExAC gnomAD
CA1594444 rs761545025	685	F>V		No	ClinGen ExAC gnomAD
CA44650487 rs970215700	686	T>S		No	ClinGen Ensembl
CA346477197 rs1465724413	687	T>A		No	ClinGen gnomAD
rs1271075163 CA346477184	688	C>Y		No	ClinGen TOPMed
CA1594443 rs375105843	690	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375105843 CA1594442	690	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA346477153 rs370435082	691	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA44650481 rs370435082	691	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1026390293 CA44650458	693	P>T		No	ClinGen TOPMed
CA1594439 rs772087086	694	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1254772094 CA346477103	696	P>R		No	ClinGen gnomAD
CA346477090 rs1339495215	697	T>I		No	ClinGen gnomAD
CA346477097 rs1199322209	697	T>P		No	ClinGen gnomAD
rs779515896 CA1594437	698	Q>*		No	ClinGen ExAC gnomAD
rs1293729041 CA346477068	699	A>G		No	ClinGen gnomAD
rs1293729041 CA346477067	699	A>V		No	ClinGen gnomAD
CA1594434 rs778015519	702	N>K		No	ClinGen ExAC gnomAD
rs1353555846 CA346477037	702	N>S		No	ClinGen gnomAD
rs1573160589 CA346476953	709	N>S		No	ClinGen Ensembl
rs1166188112 CA346476932	711	S>R		No	ClinGen TOPMed gnomAD
rs78723472 CA1594429	712	V>M		No	ClinGen ExAC TOPMed gnomAD
rs753570956 CA346476906	713	E>A		No	ClinGen ExAC gnomAD
CA1594427 rs753570956	713	E>G		No	ClinGen ExAC gnomAD
CA1594426 rs763862465	715	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1252096909 CA346476886	715	G>R		No	ClinGen gnomAD
CA346476867 rs147858673	717	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1573160519 CA346476853	718	G>D		No	ClinGen Ensembl
rs759652463 CA1594422	719	P>S		No	ClinGen ExAC gnomAD
CA346476841 rs774579604	720	L>M		No	ClinGen ExAC gnomAD
CA346476835 rs1336406369	720	L>P		No	ClinGen gnomAD
rs774579604 CA346476839	720	L>V		No	ClinGen ExAC gnomAD
CA44650357 rs140527448	722	G>A		No	ClinGen ESP TOPMed gnomAD
CA346476816 rs1573160483	722	G>R		No	ClinGen Ensembl
rs771511785 CA346476782	724	Q>H		No	ClinGen ExAC gnomAD
CA346476764 rs1573160453	726	W>*		No	ClinGen Ensembl
rs1241282087 CA346476679	733	T>I		No	ClinGen TOPMed
rs1375509946 CA346474790	738	G>S		No	ClinGen gnomAD
rs766541301 CA1594385	740	G>R		No	ClinGen ExAC gnomAD
CA346474729 rs1168161055	744	G>R		No	ClinGen gnomAD
rs1573148657 CA346474688	748	K>E		No	ClinGen Ensembl
rs776967659 CA1594380	749	N>D		No	ClinGen ExAC gnomAD
rs1258307419 CA346474643	751	M>K		No	ClinGen gnomAD
CA346474609 rs745499366	753	R>G		No	ClinGen ExAC TOPMed gnomAD
CA44642982 rs187200776 COSM1531768	753	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA346474598 rs1278118769	754	S>T		No	ClinGen gnomAD
rs770603023 CA346474569	755	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA346474571 rs770603023	755	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs747611056 CA1594375	756	G>S		No	ClinGen ExAC gnomAD
CA1594371 rs781098925	757	V>A		No	ClinGen ExAC gnomAD
rs371005946 CA1594373	757	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA346474538 rs1358103780	758	S>T		No	ClinGen gnomAD
CA346474486 rs751419856	762	I>F		No	ClinGen ExAC gnomAD
CA346474418 rs1180065316	767	K>E		No	ClinGen gnomAD
rs766666105 CA1594368	768	D>N		No	ClinGen ExAC TOPMed gnomAD
CA346474378 rs1205473928	769	D>V		No	ClinGen gnomAD
CA346474355 rs1256405098	770	M>I		No	ClinGen gnomAD
rs1315391305 CA346474325	773	I>V		No	ClinGen gnomAD
rs1448527132 CA346474275	777	Q>P		No	ClinGen gnomAD
CA1594361 rs760988933	779	G>E		No	ClinGen ExAC gnomAD
rs1346365547 CA346474240	780	E>K		No	ClinGen TOPMed
CA1594359 rs770435688	781	D>N		No	ClinGen ExAC gnomAD
CA1594356 rs769390697	782	A>V		No	ClinGen ExAC gnomAD
rs748009427 CA1594355	783	C>Y		No	ClinGen ExAC gnomAD
rs1177791435 CA346474182	784	P>T		No	ClinGen gnomAD
rs1441640593 CA346474161	785	S>I		No	ClinGen TOPMed gnomAD
rs1441640593 CA346474165	785	S>N		No	ClinGen TOPMed gnomAD
rs375227499 CA1594327	786	T>A		No	ClinGen ESP ExAC gnomAD
CA44639305 rs992716392	788	Q>R		No	ClinGen Ensembl
CA44639285 rs533224903	789	L>F		No	ClinGen 1000Genomes
rs1344236918 CA346472526	791	Q>H		No	ClinGen TOPMed
rs950513733 CA44639281	792	K>E		No	ClinGen Ensembl
CA44639279 rs866477765	793	V>F		No	ClinGen Ensembl
rs756611846 CA1594325	795	I>V		No	ClinGen ExAC gnomAD
CA346472459 rs1263111905	796	G>E		No	ClinGen gnomAD
CA44639255 rs942512399	796	G>R		No	ClinGen TOPMed gnomAD
CA346472453 rs1342747593	797	E>K		No	ClinGen TOPMed
rs1483960716 CA346472413	799	N>K		No	ClinGen gnomAD
rs563120454 CA1594323	799	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs761568836 CA1594320	806	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1339678509 CA346472261	810	S>N		No	ClinGen gnomAD
CA1594316 rs150292405	810	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM145089 CA1594314 rs771935814	811	V>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346472239 rs1404474970	812	H>D		No	ClinGen gnomAD
CA44639221 rs866703896	812	H>R		No	ClinGen TOPMed gnomAD
rs1465771744 CA346472221	813	E>G		No	ClinGen gnomAD
CA1594311 rs771130459	816	G>E		No	ClinGen ExAC gnomAD
CA346472140 rs1573141557	820	G>E		No	ClinGen Ensembl
CA44639137 rs201590062	821	G>R		No	ClinGen Ensembl
CA44639104 rs571958914	824	A>T		No	ClinGen TOPMed
CA346472111 rs1573141513	825	T>I		No	ClinGen Ensembl
rs751891495 CA1594304	826	Y>C		No	ClinGen ExAC gnomAD
rs1259594381 CA346472108	826	Y>D		No	ClinGen gnomAD
rs758883994 CA1594283	832	D>G		No	ClinGen ExAC gnomAD
COSM159022 rs1376612666 CA346472053	832	D>H	NS [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346472041 rs1573139708	833	G>E		No	ClinGen Ensembl
CA1594282 rs750849080	834	V>E		No	ClinGen ExAC gnomAD
rs763771560 CA1594281	835	P>S		No	ClinGen ExAC TOPMed gnomAD
rs142641078 CA1594278	836	V>L		No	ClinGen ESP ExAC gnomAD
rs759483564 CA1594277	837	P>L		No	ClinGen ExAC gnomAD
CA346472001 rs1156432201	837	P>S		No	ClinGen gnomAD
CA346471990 rs1299955130	838	L>P		No	ClinGen TOPMed
rs774200047 CA1594276	840	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1594273 rs773000306	842	A>P		No	ClinGen ExAC gnomAD
rs748379491 CA1594271 COSM442800	843	G>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1558629763 CA346471907	846	G>S		No	ClinGen Ensembl
rs1353170300 CA346471893	847	R>S		No	ClinGen gnomAD
CA44638310 rs1043717591	849	Y>S		No	ClinGen TOPMed
rs571017977 CA1594265	851	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1270177853 CA346471826	853	T>I		No	ClinGen TOPMed
CA346471823 rs189078025	854	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346471801 rs1295878742	855	T>M		No	ClinGen gnomAD
CA1594261 rs780727824	856	F>I		No	ClinGen ExAC gnomAD
rs780727824 CA346471797	856	F>L		No	ClinGen ExAC gnomAD
rs1573139504 CA346471792	856	F>S		No	ClinGen Ensembl
CA346471775 rs1476903182	857	H>Q		No	ClinGen TOPMed gnomAD
rs754393402 CA1594260	857	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1194282326 CA346471742 COSM3426385	860	R>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346471746 rs1194282326	860	R>K		No	ClinGen gnomAD
CA346471727 rs1461504517	862	E>K		No	ClinGen TOPMed
rs1402889581 CA346471626	867	V>I		No	ClinGen TOPMed
rs1279549141 CA346471576	870	L>P		No	ClinGen TOPMed gnomAD
rs573634420 CA1594224	879	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA346470105 rs1256624924	881	G>S		No	ClinGen gnomAD
CA44635403 rs925802421	885	D>N		No	ClinGen Ensembl
rs1452092742 CA346470041	886	N>I		No	ClinGen gnomAD
CA346470014 rs1203845715	889	L>S		No	ClinGen TOPMed
rs778677488 CA1594221	890	L>F		No	ClinGen ExAC gnomAD
rs1381440856 CA346469979	892	A>T		No	ClinGen gnomAD
COSM1690371 CA1594218 rs764014697	893	G>R	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346469942 rs1213323857	896	L>S		No	ClinGen TOPMed
COSM184791 rs1297457984 CA346469923	898	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346469928 rs1374366049 COSM236685	898	E>K	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA44635383 rs369314121	899	G>A		No	ClinGen ESP
rs1573134719 CA346469911	901	T>P		No	ClinGen Ensembl
CA1594213 rs774488715	902	G>R		No	ClinGen ExAC gnomAD
CA346469889 rs1474942302	904	H>Y		No	ClinGen TOPMed
CA346469839 rs1468545699	908	Q>K		No	ClinGen TOPMed
CA346469830 rs1573134667	908	Q>R		No	ClinGen Ensembl
rs867621462 CA44635361	910	M>I		No	ClinGen Ensembl
CA346469808 rs1558627445	910	M>V		No	ClinGen Ensembl
rs1176929677 CA346469767	912	K>R		No	ClinGen gnomAD
CA346469754 rs1280277994	913	W>*		No	ClinGen TOPMed gnomAD
CA346469755 rs1248919142	913	W>G		No	ClinGen TOPMed gnomAD
rs1280277994 CA346469752	913	W>S		No	ClinGen TOPMed gnomAD
rs1358074797 CA346469733	914	G>E		No	ClinGen gnomAD
CA44635358 rs868621829	915	W>G		No	ClinGen TOPMed gnomAD
CA346469721 rs1241864472	915	W>S		No	ClinGen gnomAD
CA346469706 rs1350965593	916	E>G		No	ClinGen gnomAD
CA346469691 rs773447647	917	T>K		No	ClinGen ExAC TOPMed gnomAD
CA346469689 rs773447647	917	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1369516328 CA346469685	918	R>G		No	ClinGen gnomAD
rs1291693850 CA346469682	918	R>K		No	ClinGen gnomAD
rs770236199 CA346469673	918	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1558627382 CA346469658	920	G>S		No	ClinGen Ensembl
CA44635346 rs746643773	920	G>V		No	ClinGen ExAC TOPMed gnomAD
CA346469637 rs1170626086	921	F>C		No	ClinGen gnomAD
rs201042802 CA1594206	921	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1594205 rs745317944	922	G>R		No	ClinGen ExAC TOPMed
CA44635323 rs79530637	923	G>E		No	ClinGen Ensembl
CA44635306 rs75861155	924	G>D		No	ClinGen Ensembl
rs78086548 CA1594202	924	G>R		No	ClinGen ExAC gnomAD
rs78086548 CA44635318	924	G>S		No	ClinGen ExAC gnomAD
rs1490348940 CA346469574	926	G>E		No	ClinGen gnomAD
rs76870042 CA44635301	927	G>R		No	ClinGen Ensembl
rs1487034418 CA346469536	929	S>A		No	ClinGen gnomAD
CA1594198 rs752568687	929	S>C		No	ClinGen ExAC gnomAD
rs752568687 CA1594197	929	S>F		No	ClinGen ExAC gnomAD
CA1594196 rs767777102	930	S>L		No	ClinGen ExAC gnomAD
rs755261455 CA1594195	932	G>A		No	ClinGen ExAC gnomAD
rs1340992656 CA346469478	936	G>V		No	ClinGen gnomAD
CA346469452 rs1280047183	938	I>T		No	ClinGen TOPMed gnomAD
rs1401882047 CA346469448	939	G>S		No	ClinGen gnomAD
rs1379843994 CA346468929	941	N>Y		No	ClinGen TOPMed gnomAD
CA346468799 rs1573132720	946	N>D		No	ClinGen Ensembl
CA1594165 rs754196355	946	N>S		No	ClinGen ExAC gnomAD
CA1594164 rs764482518	948	P>S		No	ClinGen ExAC gnomAD
rs774004991 CA1594162	949	E>K		No	ClinGen ExAC gnomAD
CA1594160 rs762456306	954	D>G		No	ClinGen ExAC gnomAD
CA346468549 rs1573132672	956	V>G		No	ClinGen Ensembl
CA1594158 rs769837053	956	V>I		No	ClinGen ExAC gnomAD
rs1558626561 CA346468531	957	S>F		No	ClinGen Ensembl
CA1594157 rs748167212	959	I>V		No	ClinGen ExAC gnomAD
rs986532632 CA44634646	960	S>I		No	ClinGen TOPMed
rs768623350 CA1594153	964	I>N		No	ClinGen ExAC
rs954019663 CA44634631	969	A>G		No	ClinGen TOPMed
rs1239620138 CA346468280	971	K>R		No	ClinGen gnomAD
CA346468110 rs1472378906	975	G>A		No	ClinGen TOPMed
CA1594121 rs568177600	977	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1573131855 CA346467962	984	Y>H		No	ClinGen Ensembl
rs758041539 CA1594120	984	Y>S		No	ClinGen ExAC gnomAD
rs1451931405 CA346467767	993	D>G		No	ClinGen TOPMed
CA1594118 rs150344432	994	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs761370627 CA1594117	996	H>R		No	ClinGen ExAC gnomAD
CA346467688 rs1377614762	998	D>E		No	ClinGen Ensembl
rs1376365612 CA346467684	999	P>H		No	ClinGen gnomAD
CA346467681 rs1376365612	999	P>L		No	ClinGen gnomAD
CA1594116 rs776287213	1000	E>G		No	ClinGen ExAC gnomAD
rs760587817 CA346467658	1002	H>L		No	ClinGen ExAC gnomAD
rs760587817 CA1594114	1002	H>P		No	ClinGen ExAC gnomAD
CA346467657 rs1428469681	1002	H>Q		No	ClinGen gnomAD
CA1594113 rs775351719	1003	K>E		No	ClinGen ExAC gnomAD
CA346467652 rs1573131736	1003	K>R		No	ClinGen Ensembl
CA346467638 rs1452461214	1005	I>T		No	ClinGen TOPMed
CA346467627 rs1573131702	1007	F>V		No	ClinGen Ensembl
rs376962390 CA1594112	1009	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA346467600 rs1243978453	1010	H>R		No	ClinGen gnomAD
CA44634324 rs901882766	1012	T>S		No	ClinGen TOPMed
rs776510871 CA44634310	1013	V>L		No	ClinGen TOPMed gnomAD
rs1263029598 CA346467575	1015	A>S		No	ClinGen gnomAD
rs1263029598 CA346467576	1015	A>T		No	ClinGen gnomAD
CA346467545 rs1340651768	1020	S>T		No	ClinGen gnomAD
CA1594105 rs755251074	1021	C>S		No	ClinGen ExAC gnomAD
rs778643763 CA1594104	1022	I>N		No	ClinGen ExAC gnomAD
rs778643763 CA1594103	1022	I>T		No	ClinGen ExAC gnomAD
rs748284394 CA346467086	1025	P>H		No	ClinGen ExAC TOPMed gnomAD
CA1594088 rs748284394	1025	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1165689158 CA346467092	1025	P>T		No	ClinGen gnomAD
rs781515382 CA346467083	1026	T>A		No	ClinGen ExAC TOPMed gnomAD
rs781515382 CA1594087	1026	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1294581592 CA346467076	1026	T>S		No	ClinGen gnomAD
CA1594085 rs780622717	1028	E>D		No	ClinGen ExAC gnomAD
CA346467028 rs200992945	1030	H>L		No	ClinGen ExAC gnomAD
CA1594081 rs200992945 COSM4133807	1030	H>P	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1284585137 CA346467029	1030	H>Y		No	ClinGen TOPMed
rs369347067 CA44633267	1032	P>S		No	ClinGen ESP TOPMed gnomAD
rs139365887 CA1594076	1033	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1594075 rs572614173	1033	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346466996 rs572614173	1033	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA44633237 rs900240239	1034	S>L		No	ClinGen TOPMed
CA346466978 rs1366270319	1035	L>R		No	ClinGen TOPMed gnomAD
CA346466938 rs200080181	1039	V>L		No	ClinGen ESP TOPMed gnomAD
rs763143588 CA346466928	1040	V>L		No	ClinGen ExAC gnomAD
rs1365149175 CA346466912	1041	T>I		No	ClinGen gnomAD
rs761736018 CA1594067	1043	A>S		No	ClinGen ExAC gnomAD
rs1573128815 CA346466881	1044	L>F		No	ClinGen Ensembl
rs1573128792 CA346466863	1045	V>A		No	ClinGen Ensembl
CA346466845 rs1219554154	1046	A>V		No	ClinGen gnomAD
rs1217558142 CA346466832	1047	A>V		No	ClinGen gnomAD
CA1594063 rs143452915	1049	V>I		No	ClinGen ESP ExAC gnomAD
CA1594060 rs755804208	1055	I>F		No	ClinGen ExAC gnomAD
rs747594544 CA1594059	1057	I>T		No	ClinGen ExAC TOPMed gnomAD
rs746160392 CA1594042	1059	Y>*		No	ClinGen ExAC gnomAD
rs1573125689 CA346465727	1059	Y>S		No	ClinGen Ensembl
rs769322016 CA1594040	1060	R>H		No	ClinGen ExAC TOPMed gnomAD
CA346465718 rs769322016	1060	R>P		No	ClinGen ExAC TOPMed gnomAD
rs774836034 CA44632070	1060	R>S		No	ClinGen ExAC TOPMed gnomAD
CA346465683 rs1248300698	1063	H>P		No	ClinGen TOPMed
rs1426252423 CA346465661	1065	E>Q		No	ClinGen gnomAD
CA346465632 rs1487379331	1068	A>T		No	ClinGen TOPMed
CA1594038 rs754439273	1068	A>V		No	ClinGen ExAC gnomAD
rs1182137582 CA346465615	1069	M>T		No	ClinGen gnomAD
CA1594037 rs138178848	1070	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA346465540 rs1241116907	1071	M>I		No	ClinGen gnomAD
rs1248273590 CA346465523	1072	E>V		No	ClinGen TOPMed
rs758372744 CA1594035	1075	S>G		No	ClinGen ExAC gnomAD
rs750171788 CA1594034	1076	P>R		No	ClinGen ExAC gnomAD
rs757392337 CA1594032	1079	K>E		No	ClinGen ExAC gnomAD
rs775724766 CA1594028	1082	K>N		No	ClinGen ExAC gnomAD
rs1335062401 CA346465228	1083	L>F		No	ClinGen gnomAD
CA346465224 rs1452386636	1083	L>R		No	ClinGen gnomAD
rs768123237 CA1594027	1084	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1460007760 CA346465174	1085	T>N		No	ClinGen gnomAD
rs138589984 CA1594024	1086	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs776229060 CA1594022	1087	T>A		No	ClinGen ExAC gnomAD
CA346465063 rs1573125389	1089	M>I		No	ClinGen Ensembl
CA44631995 rs925658268	1089	M>T		No	ClinGen Ensembl
CA346465011 rs1252535185	1091	D>G		No	ClinGen gnomAD
rs370170353 CA1594016	1097	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566982691 CA1594013	1098	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA1594012 rs756462911	1099	A>V		No	ClinGen ExAC gnomAD
CA346464794 rs1295561133	1102	T>S		No	ClinGen TOPMed
CA1594009 rs759935726	1104	S>T		No	ClinGen ExAC gnomAD
rs1363291878 CA346464701	1110	E>K		No	ClinGen gnomAD
rs558282902 CA1594007	1111	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs752052590 CA1594008	1111	V>L		No	ClinGen ExAC gnomAD
CA346464679 rs1319794557	1112	P>L		No	ClinGen TOPMed
rs1472845031 CA346464611	1118	L>F		No	ClinGen TOPMed
CA1594001 rs374188635	1120	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA44631939 rs374188635	1120	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs781411935 CA1593975	1121	G>S		No	ClinGen ExAC TOPMed gnomAD
rs55760835 CA346464371	1121	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340912699 CA346464350	1123	G>S		No	ClinGen gnomAD
CA346464246 rs1192506385	1125	G>D		No	ClinGen TOPMed
CA1593968 rs757580052	1126	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1593966 rs767184645	1127	F>L		No	ClinGen ExAC gnomAD
CA346464156 rs1405217832	1127	F>S		No	ClinGen gnomAD
rs1329509601 CA346464146	1128	G>R		No	ClinGen gnomAD
rs759177019 CA346464080	1129	E>D		No	ClinGen ExAC TOPMed gnomAD
CA346463966 rs773881309	1133	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1172239019 CA346463957	1134	Q>R		No	ClinGen TOPMed gnomAD
CA346463901 rs762571775	1137	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1593961 rs773241951	1138	M>I		No	ClinGen ExAC gnomAD
rs769855519 CA1593960	1139	P>L		No	ClinGen ExAC gnomAD
rs150785816 CA1593959	1140	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346463620 rs141041751	1146	Q>H		No	ClinGen ESP ExAC gnomAD
CA346463613 rs1378239568	1147	V>M		No	ClinGen gnomAD
CA1593954 rs758424749	1148	A>V		No	ClinGen ExAC gnomAD
rs76805758 CA44631330	1149	V>G		No	ClinGen Ensembl
CA44631328 rs200916982	1150	K>E		No	ClinGen Ensembl
CA346463514 rs1558622960	1150	K>N		No	ClinGen Ensembl
rs113994091 CA1593928	1151	T>R		No	ClinGen ExAC TOPMed gnomAD
CA44631234 rs917295547	1153	P>R		No	ClinGen TOPMed gnomAD
CA346463289 rs1005846150	1154	E>K		No	ClinGen gnomAD
CA44631230 rs1005846150	1154	E>Q		No	ClinGen gnomAD
rs992821091 CA44631223	1155	V>M		No	ClinGen TOPMed
rs749951867 CA1593925	1158	E>Q		No	ClinGen ExAC gnomAD
CA346463174 rs1270501196	1159	Q>L		No	ClinGen TOPMed gnomAD
CA346463104 rs1242363681	1161	E>A		No	ClinGen TOPMed gnomAD
rs761792619 CA1593923	1162	L>P		No	ClinGen ExAC gnomAD
CA1593922 rs753670250	1163	D>N		No	ClinGen ExAC gnomAD
rs1224108356 CA346462993	1166	M>I		No	ClinGen gnomAD
rs1057520019 CA346462997	1166	M>T		No	ClinGen TOPMed
rs546333460 CA44631173	1170	I>M		No	ClinGen 1000Genomes TOPMed
CA1593919 rs760322018	1171	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1198494888 CA346473157	1179	I>V		No	ClinGen gnomAD
CA346473143 rs1034835558	1181	R>P		No	ClinGen gnomAD
rs1573120422 CA346473129	1183	I>M		No	ClinGen Ensembl
CA44655597 rs1002995598	1183	I>T		No	ClinGen gnomAD
rs770456378 CA1593865	1183	I>V		No	ClinGen ExAC gnomAD
rs749016081 CA1593864	1185	V>L		No	ClinGen ExAC TOPMed gnomAD
rs755576991 CA1593862	1186	S>N		No	ClinGen ExAC gnomAD
rs747661585 CA1593861	1190	L>M		No	ClinGen ExAC gnomAD
CA346473083 rs113994089	1192	R>Q		No	ClinGen Ensembl
rs1295056005 COSM1690370 CA346473057	1197	E>K	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs751306825 COSM97028 CA346473048	1198	L>F	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766238529 CA1593857	1198	L>H		No	ClinGen ExAC gnomAD
rs751306825 CA1593858	1198	L>I		No	ClinGen ExAC TOPMed gnomAD
rs200585833 CA1593855	1200	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761333959 CA1593850	1201	G>R		No	ClinGen ExAC gnomAD
rs1187025942 CA346473029	1201	G>V		No	ClinGen gnomAD
CA346473032 rs761333959	1201	G>W		No	ClinGen ExAC gnomAD
CA346473025 rs1244270149	1202	G>E		No	ClinGen gnomAD
rs759845895 CA1593847	1203	D>N		No	ClinGen ExAC gnomAD
CA346473011 rs1573120149	1204	L>P		No	ClinGen Ensembl
rs570047337 CA1593846	1208	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs747643140 CA44655503	1209	R>P		No	ClinGen ExAC TOPMed gnomAD
CA1593844 COSM327056 rs747643140	1209	R>Q	stomach haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1462510005 CA346472965	1212	R>C		No	ClinGen gnomAD
rs750194005 CA44655459	1214	R>L		No	ClinGen ExAC TOPMed gnomAD
CA346472950 rs779222532	1215	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA1593813 rs543229475	1216	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1159709305 CA346471659	1218	P>L		No	ClinGen gnomAD
CA1593812 rs752728718	1219	S>F		No	ClinGen ExAC gnomAD
CA44649690 rs942221879	1220	S>Y		No	ClinGen TOPMed
CA346471595 rs1573108993	1223	M>L		No	ClinGen Ensembl
rs763332339 CA346471497	1228	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs776228721 CA346471483	1229	V>L		No	ClinGen ExAC gnomAD
rs375448626 CA1593806	1230	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA346471402 rs1573108910	1233	I>M		No	ClinGen Ensembl
CA346471387 rs1573108894	1234	A>V		No	ClinGen Ensembl
CA346471320 rs1573108886	1237	C>W		No	ClinGen Ensembl
rs1573108872 CA346471284	1239	Y>D		No	ClinGen Ensembl
CA346471252 rs948993224	1241	E>*		No	ClinGen Ensembl
CA44649640 rs948993224	1241	E>K		No	ClinGen Ensembl
CA1593801 rs145028315 RCV000657739	1248	R>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368059424 CA1593800	1248	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763792752 CA1593787	1250	I>V		No	ClinGen ExAC gnomAD
rs1041792582 CA44646470	1252	A>D		No	ClinGen Ensembl
rs1204300287 CA346469734	1260	P>Q		No	ClinGen gnomAD
rs766988856 CA1593784	1260	P>S		No	ClinGen ExAC gnomAD
CA1593783 rs759144859	1261	G>S		No	ClinGen ExAC gnomAD
CA1593782 rs774360880	1262	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346469703 rs1174034094 COSM3933628	1263	G>E	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA44646426 rs1010341473	1264	R>K		No	ClinGen Ensembl
rs749074853 CA1593780	1265	V>M		No	ClinGen ExAC gnomAD
rs1275669079 CA346469642	1268	I>T		No	ClinGen gnomAD
CA346469525 rs1300517321	1279	R>K		No	ClinGen TOPMed gnomAD
CA1593740 rs761459938	1281	S>N		No	ClinGen ExAC TOPMed gnomAD
rs13427480 CA44644407	1284	R>K		No	ClinGen Ensembl
CA44644405 rs972332611	1288	C>R		No	ClinGen Ensembl
rs760931577 CA1593737	1288	C>Y		No	ClinGen ExAC gnomAD
CA346468946 rs1558612899	1289	A>T		No	ClinGen Ensembl
CA1593736 rs775528669	1290	M>L		No	ClinGen ExAC gnomAD
rs1024193740 CA44644399	1293	V>I		No	ClinGen TOPMed gnomAD
rs745961954 CA1593734	1297	P>A		No	ClinGen ExAC gnomAD
COSM1668826 rs774660639 CA1593733	1298	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346468685 rs1573098912	1300	A>T		No	ClinGen Ensembl
rs749608713 CA346468630	1302	M>K		No	ClinGen ExAC gnomAD
rs1013688370 CA44644381	1304	G>E		No	ClinGen TOPMed gnomAD
CA346466578 rs1060500218	1313	W>*		No	ClinGen gnomAD
CA346468431 rs1573098889	1313	W>*		No	ClinGen Ensembl
CA1593709 rs770242459	1317	V>L		No	ClinGen ExAC gnomAD
CA346466378 rs1214281090	1321	E>D		No	ClinGen TOPMed gnomAD
rs1204438156 CA346466347	1323	F>C		No	ClinGen TOPMed
CA346466332 rs758127441	1324	S>F		No	ClinGen ExAC gnomAD
VAR_041488 rs56160491 CA44638112	1328	M>L		No	ClinGen UniProt Ensembl dbSNP
CA44638109 rs867766429	1329	P>S		No	ClinGen Ensembl
CA44638105 rs370364694	1331	P>H		No	ClinGen ESP TOPMed
CA346466189 rs1558606775	1333	K>E		No	ClinGen Ensembl
rs1415136226 CA346466175	1333	K>N		No	ClinGen gnomAD
CA346466160 rs1209406542	1334	S>N		No	ClinGen TOPMed
rs1460140435 CA346466127	1336	Q>*		No	ClinGen TOPMed
CA1593705 rs745367614	1336	Q>H		No	ClinGen ExAC gnomAD
CA346466115 rs1471521598	1337	E>*		No	ClinGen gnomAD
CA346466093 rs1573084680	1338	V>F		No	ClinGen Ensembl
rs1416439647 CA346466084	1339	L>M		No	ClinGen TOPMed gnomAD
CA1593704 rs375809999	1339	L>P		No	ClinGen ESP ExAC gnomAD
rs1416439647 CA346466081	1339	L>V		No	ClinGen TOPMed gnomAD
rs757123467 CA1593703	1342	V>I		No	ClinGen ExAC gnomAD
rs753763148 CA346466015	1343	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1593701 rs764053092	1344	S>G		No	ClinGen ExAC gnomAD
CA1593700 rs755843358	1346	G>S		No	ClinGen ExAC gnomAD
rs865887581 CA44638071	1347	R>W		No	ClinGen Ensembl
CA346465936 rs1334083900	1348	M>T		No	ClinGen gnomAD
rs368744524 CA1593697	1349	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368744524 CA346465923	1349	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA346465912 rs1229126525	1349	D>V		No	ClinGen gnomAD
rs949778991 CA44638054	1350	P>L		No	ClinGen Ensembl
rs963770969 CA44638052	1354	C>F		No	ClinGen TOPMed
rs1573084515 CA346465777	1357	P>A		No	ClinGen Ensembl
rs766432369 CA1593695	1358	V>A		No	ClinGen ExAC gnomAD
rs748787875 COSM477300 CA1593668	1359	Y>C	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1593667 rs777303002	1360	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1593666 rs769693896	1361	I>V		No	ClinGen ExAC gnomAD
rs1281050927 CA346465494	1363	T>I		No	ClinGen gnomAD
CA346465408 rs1232528531	1365	C>R		No	ClinGen gnomAD
CA346465261 rs1297991593	1368	H>R		No	ClinGen TOPMed
rs748027591 CA1593665	1370	P>R		No	ClinGen ExAC gnomAD
CA346465203 rs1287738986	1371	E>D		No	ClinGen TOPMed gnomAD
CA1593664 rs781021461	1371	E>G		No	ClinGen ExAC gnomAD
CA346465216 rs1437829239	1371	E>K		No	ClinGen gnomAD
CA346465188 rs1448176747	1372	D>A		No	ClinGen gnomAD
rs535864522 CA1593663	1372	D>H		No	ClinGen 1000Genomes ExAC
CA346465197 rs535864522	1372	D>N		No	ClinGen 1000Genomes ExAC
rs780310741 CA1593661	1374	P>H		No	ClinGen ExAC gnomAD
CA1593658 rs765457749	1375	N>K		No	ClinGen ExAC TOPMed gnomAD
VAR_055987 rs17694720 CA44637294	1376	F>S		No	ClinGen UniProt Ensembl dbSNP
CA1593656 rs762008602	1378	I>S		No	ClinGen ExAC gnomAD
CA346464929 rs1573083257	1380	L>F		No	ClinGen Ensembl
CA1593654 rs764517015	1381	E>V		No	ClinGen ExAC gnomAD
rs1483651629 CA346464903	1382	R>T		No	ClinGen gnomAD
CA1593653 rs200902932	1388	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1293906412 CA346463643	1390	P>L		No	ClinGen gnomAD
CA346463588 rs1231708230	1391	D>N		No	ClinGen TOPMed
rs767817431 CA1593633	1393	I>T		No	ClinGen ExAC gnomAD
CA346463501 rs1292342168	1394	N>H		No	ClinGen TOPMed
rs1060500220 CA346463441 COSM116285	1395	T>S	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA44635294 rs201768549	1396	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201768549 CA1593631	1396	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA156650 RCV000731883 RCV000119982 rs201768549	1396	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1593627 rs746970974	1399	I>T		No	ClinGen ExAC gnomAD
CA44635280 rs978004615	1400	E>A		No	ClinGen TOPMed
CA346463360 rs1573079264	1400	E>Q		No	ClinGen Ensembl
CA1593625 rs549395816	1401	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA346463312 rs1212504281	1403	P>L		No	ClinGen TOPMed gnomAD
rs377129811 CA1593621	1404	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA1593620 rs777760767	1405	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1298834437 CA346463252	1407	E>G		No	ClinGen TOPMed
rs1334825922 CA346463261	1407	E>Q		No	ClinGen gnomAD
CA1593619 rs145600484	1408	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1593617 rs139086136	1409	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs755276699 CA1593616	1410	K>E		No	ClinGen ExAC
rs748638070 CA1593615	1411	V>L		No	ClinGen ExAC gnomAD
rs560530815 CA1593613	1413	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs77762612 CA1593611	1414	R>K		No	ClinGen ExAC TOPMed gnomAD
CA346463119 rs77762612	1414	R>M		No	ClinGen ExAC TOPMed gnomAD
rs111323577 CA44635217	1415	P>L		No	ClinGen Ensembl
CA346463076 rs55782189	1416	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1193481676 CA346463066	1417	D>A		No	ClinGen gnomAD
CA346463069 rs1251673674	1417	D>H		No	ClinGen gnomAD
rs56181542 CA1593608	1419	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1593607 rs774358799	1421	V>I		No	ClinGen ExAC gnomAD
rs1573079038 CA346462914	1424	L>V		No	ClinGen Ensembl
CA346462794 rs55906201	1429	Q>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA44635188 rs55906201 VAR_041491	1429	Q>R		No	ClinGen UniProt 1000Genomes TOPMed dbSNP gnomAD
rs1338314504 CA346462782	1430	A>S		No	ClinGen TOPMed gnomAD
rs1338314504 CA346462784	1430	A>T		No	ClinGen TOPMed gnomAD
rs1374838786 CA346462757	1432	R>Q		No	ClinGen TOPMed
CA346462721 rs1320328121	1434	E>G		No	ClinGen TOPMed gnomAD
rs778085426 CA1593603	1434	E>K		No	ClinGen ExAC gnomAD
CA1593601 rs201129468 COSM1020005	1436	R>C	lung endometrium [Cosmic]	No	ClinGen cosmic curated ExAC
CA1593600 rs544926207	1436	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346462661 rs1436818262	1439	A>P		No	ClinGen gnomAD
CA346462651 rs1307483937	1440	A>P		No	ClinGen TOPMed
CA1593598 rs376663453	1441	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA44635142 rs80004824	1442	P>A		No	ClinGen Ensembl
rs780446448 CA1593597	1443	P>L		No	ClinGen ExAC gnomAD
CA44635141 rs996777247	1443	P>S		No	ClinGen Ensembl
rs1244374044 CA346462605	1445	P>A		No	ClinGen gnomAD
rs554599505 CA1593595	1447	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1573078828 CA346462584	1447	T>P		No	ClinGen Ensembl
rs763814257 CA1593593	1449	S>A		No	ClinGen ExAC gnomAD
rs760048406 CA1593592	1450	G>A		No	ClinGen ExAC gnomAD
CA346462530 rs1346420173	1450	G>S		No	ClinGen TOPMed
rs1486547270 CA346462490	1451	K>R		No	ClinGen Ensembl
CA1593591 rs752317227	1453	A>T		No	ClinGen ExAC gnomAD
CA346462386 rs1573078740	1455	K>N		No	ClinGen Ensembl
CA44635112 rs944804641	1456	P>L		No	ClinGen gnomAD
rs767562423 CA1593590	1456	P>S		No	ClinGen ExAC gnomAD
CA44635105 rs112657055	1457	T>I		No	ClinGen Ensembl
rs774448761 CA1593589	1458	A>D		No	ClinGen ExAC gnomAD
CA1593588 rs774448761	1458	A>V		No	ClinGen ExAC gnomAD
CA346462323 rs1416798138	1459	A>E		No	ClinGen gnomAD
rs773248596 CA1593585	1460	E>G		No	ClinGen ExAC gnomAD
CA346462293 rs1670283	1461	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1670283 CA346462295	1461	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1593584 rs756396898	1461	I>S		No	ClinGen ExAC gnomAD
rs756396898 CA44635062	1461	I>T		No	ClinGen ExAC gnomAD
CA346462250 rs374135358	1464	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs769128867 CA1593582	1465	V>L		No	ClinGen ExAC gnomAD
CA346462235 rs1368483124	1466	P>H		No	ClinGen gnomAD
CA346462213 rs1473999218	1468	G>E		No	ClinGen gnomAD
rs758625575 CA1593579	1469	P>L		No	ClinGen ExAC gnomAD
CA1593580 rs780571098	1469	P>S		No	ClinGen ExAC
CA1593577 rs201759867	1471	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346462167 rs1463792690	1473	G>R		No	ClinGen TOPMed gnomAD
CA346462131 rs1329539708	1476	V>A		No	ClinGen TOPMed
CA346462137 rs1353772576	1476	V>M		No	ClinGen gnomAD
CA346462093 rs1410822315	1480	F>L		No	ClinGen TOPMed gnomAD
CA346462075 rs1356575388	1481	S>C		No	ClinGen gnomAD
CA1593572 rs752320442	1484	N>S		No	ClinGen ExAC TOPMed gnomAD
CA346462048 rs752320442	1484	N>T		No	ClinGen ExAC TOPMed gnomAD
CA1593571 rs762641077	1485	P>T		No	ClinGen ExAC gnomAD
rs1182539285 CA346462017	1487	S>L		No	ClinGen gnomAD
rs762072069 CA1593568	1487	S>P		No	ClinGen ExAC TOPMed gnomAD
rs776861631 CA1593567	1488	E>Q		No	ClinGen ExAC gnomAD
CA1593564 rs775805709	1491	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA346461974 rs1881420	1491	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA44634925 rs984233224	1492	V>A		No	ClinGen Ensembl
rs567438064 CA1593562	1492	V>I		No	ClinGen 1000Genomes ExAC
rs747759910 CA1593560	1493	H>L		No	ClinGen ExAC gnomAD
CA346461951 rs747759910	1493	H>R		No	ClinGen ExAC gnomAD
CA346461928 rs1255053275	1495	S>F		No	ClinGen Ensembl
rs1441987948 CA346461937	1495	S>T		No	ClinGen gnomAD
rs1475116674 CA346461245	1498	K>R		No	ClinGen TOPMed
rs751170666 CA1593557	1500	T>I		No	ClinGen ExAC gnomAD
CA1593556 rs766221098	1501	S>N		No	ClinGen ExAC gnomAD
rs866520482 CA44634888	1503	W>*		No	ClinGen Ensembl
CA1593553 COSM3668640 rs765034301	1506	T>M	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA346461092 rs1553386991	1506	T>S		No	ClinGen Ensembl
CA1593548 rs775709305	1510	W>R		No	ClinGen ExAC gnomAD
rs1573078272 CA346460960	1511	F>V		No	ClinGen Ensembl
rs75681494 CA44634866	1512	T>I		No	ClinGen TOPMed gnomAD
rs75681494 CA346460937	1512	T>R		No	ClinGen TOPMed gnomAD
CA44634865 rs148138515	1513	E>D		No	ClinGen 1000Genomes
CA346460912 rs1217418507	1513	E>G		No	ClinGen TOPMed
rs374733353 CA346460925	1513	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346460860 rs1275772350	1515	P>T		No	ClinGen TOPMed
CA1593545 rs768933017	1516	T>Q*		No	ClinGen ExAC
CA1593544 rs774746810	1518	K>N		No	ClinGen ExAC gnomAD
rs1216631957 CA346460759	1521	P>A		No	ClinGen gnomAD
CA346460757 rs1318926775	1521	P>H		No	ClinGen gnomAD
CA44634837 rs902642850	1522	I>M		No	ClinGen Ensembl
CA44634840 rs771352312	1522	I>R		No	ClinGen ExAC TOPMed gnomAD
CA1593543 rs771352312	1522	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1593542 rs780976256	1525	K>T		No	ClinGen ExAC gnomAD
rs1306094937 CA346460706	1526	E>A		No	ClinGen TOPMed gnomAD
CA346460708 rs1306094937	1526	E>G		No	ClinGen TOPMed gnomAD
rs1558603565 CA346460712	1526	E>Q		No	ClinGen Ensembl
rs1011355630 CA44634829	1529	D>G		No	ClinGen TOPMed
rs1011355630 CA346460670	1529	D>V		No	ClinGen TOPMed
rs1432340716 CA346460667	1530	R>G		No	ClinGen gnomAD
CA44634826 rs141242925	1530	R>K		No	ClinGen ESP TOPMed
CA346460661 rs141242925	1530	R>M		No	ClinGen ESP TOPMed
rs867422810 CA44634823	1531	G>S		No	ClinGen Ensembl
rs563126725 CA1593536	1532	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764298799 CA1593532	1533	L>P		No	ClinGen ExAC gnomAD
rs764298799 CA1593533	1533	L>R		No	ClinGen ExAC gnomAD
CA346460625 rs139185626	1534	G>A		No	ClinGen ESP ExAC gnomAD
rs1453682751 CA346460627	1534	G>R		No	ClinGen TOPMed gnomAD
CA1593530 rs752701859	1536	E>Q		No	ClinGen ExAC gnomAD
CA44634809 rs1046265972	1537	G>E		No	ClinGen Ensembl
rs958335893 CA44634810	1537	G>R		No	ClinGen TOPMed
rs1558603479 CA346460591	1539	C>Y		No	ClinGen Ensembl
rs1215255332 CA346460582	1540	T>S		No	ClinGen TOPMed gnomAD
rs1377750806 CA346460573	1542	P>T		No	ClinGen gnomAD
CA1593526 rs771622065	1543	P>S		No	ClinGen ExAC gnomAD
CA346460570 rs771622065	1543	P>T		No	ClinGen ExAC gnomAD
CA1593525 rs763403897 COSM3764852	1544	N>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346460558 rs1296992304	1545	V>I		No	ClinGen gnomAD
rs78868998 CA44634789	1548	G>E		No	ClinGen Ensembl
CA1593522 rs200425614	1551	P>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA1593521 rs771570579	1552	G>R		No	ClinGen ExAC gnomAD
CA1593520 rs771570579	1552	G>W		No	ClinGen ExAC gnomAD
CA346460515 rs745390287	1553	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1593519 COSM1244840 rs745390287	1553	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA346460498 rs1214400523	1556	L>V		No	ClinGen TOPMed
CA346460489 rs1288125067	1557	L>P		No	ClinGen TOPMed
CA346460488 rs1181414697	1558	E>K		No	ClinGen TOPMed
rs753622072 CA1593516	1560	S>P		No	ClinGen ExAC gnomAD
rs1209157216 CA346460466	1561	S>*		No	ClinGen gnomAD
rs974930400 CA44634764	1562	L>R		No	ClinGen TOPMed
rs767659365 CA1593512	1563	T>N		No	ClinGen ExAC gnomAD
rs1019065457 CA44634750	1564	A>T		No	ClinGen Ensembl
rs1208409389 CA346460445	1565	N>S		No	ClinGen TOPMed gnomAD
CA346460435 rs1291120133	1566	M>I		No	ClinGen gnomAD
CA346460438 rs1356952469	1566	M>T		No	ClinGen gnomAD
rs1413940049 CA346460426	1567	K>N		No	ClinGen gnomAD
rs1573077572 CA346460424	1568	E>Q		No	ClinGen Ensembl
CA44634731 rs1021483040	1569	V>I		No	ClinGen Ensembl
rs1460362626 CA346460393	1573	R>G		No	ClinGen gnomAD
CA1593506 rs770217830	1574	L>I		No	ClinGen ExAC gnomAD
rs148351049 CA1593505	1575	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs745349865 CA1593504	1575	R>L		No	ClinGen ExAC gnomAD
rs200829376 CA1593500	1577	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA346460361 rs1251627719	1578	P>L		No	ClinGen gnomAD
CA346460345 rs1213759986	1581	N>Y		No	ClinGen gnomAD
CA1593495 rs781448587	1583	N>D		No	ClinGen ExAC gnomAD
rs751677905 CA1593493	1583	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1573077410 COSM1326219 CA346460320	1585	G>S	ovary [Cosmic]	No	ClinGen cosmic curated Ensembl
rs750920504 CA1593490	1586	Y>*		No	ClinGen ExAC gnomAD
CA1593489 rs765866043	1587	Q>*		No	ClinGen ExAC gnomAD
CA346460303 rs1443014958	1587	Q>R		No	ClinGen gnomAD
rs1457558507 CA346460282	1590	G>D		No	ClinGen gnomAD
rs1457558507 CA346460280	1590	G>V		No	ClinGen gnomAD
CA1593487 rs776898697	1593	L>*		No	ClinGen ExAC gnomAD
rs776898697 CA1593488	1593	L>S		No	ClinGen ExAC gnomAD
rs759166553 CA1593485	1594	E>A		No	ClinGen ExAC gnomAD
rs767191161 CA1593486	1594	E>K		No	ClinGen ExAC gnomAD
CA1593483 rs748822593	1596	A>P		No	ClinGen ExAC TOPMed gnomAD
rs748822593 CA1593482	1596	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1593481 rs577660779	1598	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369781538 CA1593479	1600	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs747161831 CA346460179	1602	G>R		No	ClinGen ExAC TOPMed gnomAD
rs747161831 CA1593477	1602	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780454793 CA1593476	1603	H>N		No	ClinGen ExAC gnomAD
rs780454793 CA346460169	1603	H>Y		No	ClinGen ExAC gnomAD
rs1455937166 CA346460124	1606	D>E		No	ClinGen gnomAD
CA1593466 rs766072801	1610	K>N		No	ClinGen ExAC gnomAD
rs1487769564 CA346460042	1613	N>K		No	ClinGen gnomAD
CA1593463 rs368300433	1613	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345614251 CA346460015	1617	Q>*		No	ClinGen gnomAD
CA346460011 rs1302653514	1617	Q>H		No	ClinGen gnomAD
rs1400620079 CA346459998	1619	G>V		No	ClinGen gnomAD
rs1383494876 CA346459995	1620	P>L		No	ClinGen gnomAD
CA1593461 rs776637020	1620	P>S		No	ClinGen ExAC gnomAD

7 associated diseases with Q9UM73

[MIM: 613014]: Neuroblastoma 3 (NBLST3)

A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. {ECO:0000269|PubMed:18724359, ECO:0000269|PubMed:18923523, ECO:0000269|PubMed:18923525, ECO:0000269|PubMed:21242967, ECO:0000269|PubMed:22932897}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. {ECO:0000269|PubMed:18724359, ECO:0000269|PubMed:18923523, ECO:0000269|PubMed:18923525, ECO:0000269|PubMed:21242967, ECO:0000269|PubMed:22932897}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

9 regional properties for Q9UM73

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	1116 - 1392	IPR000719
domain	MAM domain	264 - 427	IPR000998-1
domain	MAM domain	478 - 636	IPR000998-2
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	1117 - 1382	IPR001245
conserved_site	Tyrosine-protein kinase, receptor class II, conserved site	1276 - 1284	IPR002011
repeat	Low-density lipoprotein (LDL) receptor class A repeat	437 - 473	IPR002172
active_site	Tyrosine-protein kinase, active site	1245 - 1257	IPR008266
binding_site	Protein kinase, ATP binding site	1122 - 1150	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	1116 - 1383	IPR020635

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Membrane attachment is essential for promotion of neuron-like differentiation and cell proliferation arrest through specific activation of the MAP kinase pathway
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF276	ALK TYROSINE KINASE RECEPTOR
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

6 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
identical protein binding	Binding to an identical protein or proteins.
NF-kappaB-inducing kinase activity	Catalysis of the phosphorylation of the alpha or beta subunit of the inhibitor of kappaB kinase complex (IKK).
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

19 GO annotations of biological process

Name	Definition
adult behavior	Behavior in a fully developed and mature organism.
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
hippocampus development	The progression of the hippocampus over time from its initial formation until its mature state.
negative regulation of lipid catabolic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids.
neuron development	The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of dendrite development	Any process that activates or increases the frequency, rate or extent of dendrite development.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of NF-kappaB transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of the transcription factor NF-kappaB.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
regulation of apoptotic process	Any process that modulates the occurrence or rate of cell death by apoptotic process.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of dopamine receptor signaling pathway	Any process that modulates the frequency, rate or extent of a dopamine receptor signaling pathway activity. A dopamine receptor signaling pathway is the series of molecular signals generated as a consequence of a dopamine receptor binding to one of its physiological ligands.
regulation of neuron differentiation	Any process that modulates the frequency, rate or extent of neuron differentiation.
response to environmental enrichment	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of the provision of a combination of complex inanimate and social stimulations in the organism's housing environment.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
swimming behavior	The response to external or internal stimuli that results in the locomotory process of swimming. Swimming is the self-propelled movement of an organism through the water.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

54 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769I5	MET	Hepatocyte growth factor receptor	Bos taurus (Bovine)	PR
A0M8S8	MET	Hepatocyte growth factor receptor	Felis catus (Cat) (Felis silvestris catus)	PR
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P11362	FGFR1	Fibroblast growth factor receptor 1	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q9WTL4	Insrr	Insulin receptor-related protein	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P97793	Alk	ALK tyrosine kinase receptor	Mus musculus (Mouse)	SS
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
Q64716	Insrr	Insulin receptor-related protein	Rattus norvegicus (Rat)	SS
Q8I7I5	rol-3	Protein roller-3	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
H2KZU7	svh-2	Tyrosine-protein kinase receptor svh-2	Caenorhabditis elegans	SS
F8W3R9	alk	ALK tyrosine kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
F1QVU0	ltk	Tyrosine-protein kinase receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MGAIGLLWLL	PLLLSTAAVG	SGMGTGQRAG	SPAAGPPLQP	REPLSYSRLQ	RKSLAVDFVV
70	80	90	100	110	120
PSLFRVYARD	LLLPPSSSEL	KAGRPEARGS	LALDCAPLLR	LLGPAPGVSW	TAGSPAPAEA
130	140	150	160	170	180
RTLSRVLKGG	SVRKLRRAKQ	LVLELGEEAI	LEGCVGPPGE	AAVGLLQFNL	SELFSWWIRQ
190	200	210	220	230	240
GEGRLRIRLM	PEKKASEVGR	EGRLSAAIRA	SQPRLLFQIF	GTGHSSLESP	TNMPSPSPDY
250	260	270	280	290	300
FTWNLTWIMK	DSFPFLSHRS	RYGLECSFDF	PCELEYSPPL	HDLRNQSWSW	RRIPSEEASQ
310	320	330	340	350	360
MDLLDGPGAE	RSKEMPRGSF	LLLNTSADSK	HTILSPWMRS	SSEHCTLAVS	VHRHLQPSGR
370	380	390	400	410	420
YIAQLLPHNE	AAREILLMPT	PGKHGWTVLQ	GRIGRPDNPF	RVALEYISSG	NRSLSAVDFF
430	440	450	460	470	480
ALKNCSEGTS	PGSKMALQSS	FTCWNGTVLQ	LGQACDFHQD	CAQGEDESQM	CRKLPVGFYC
490	500	510	520	530	540
NFEDGFCGWT	QGTLSPHTPQ	WQVRTLKDAR	FQDHQDHALL	LSTTDVPASE	SATVTSATFP
550	560	570	580	590	600
APIKSSPCEL	RMSWLIRGVL	RGNVSLVLVE	NKTGKEQGRM	VWHVAAYEGL	SLWQWMVLPL
610	620	630	640	650	660
LDVSDRFWLQ	MVAWWGQGSR	AIVAFDNISI	SLDCYLTISG	EDKILQNTAP	KSRNLFERNP
670	680	690	700	710	720
NKELKPGENS	PRQTPIFDPT	VHWLFTTCGA	SGPHGPTQAQ	CNNAYQNSNL	SVEVGSEGPL
730	740	750	760	770	780
KGIQIWKVPA	TDTYSISGYG	AAGGKGGKNT	MMRSHGVSVL	GIFNLEKDDM	LYILVGQQGE
790	800	810	820	830	840
DACPSTNQLI	QKVCIGENNV	IEEEIRVNRS	VHEWAGGGGG	GGGATYVFKM	KDGVPVPLII
850	860	870	880	890	900
AAGGGGRAYG	AKTDTFHPER	LENNSSVLGL	NGNSGAAGGG	GGWNDNTSLL	WAGKSLQEGA
910	920	930	940	950	960
TGGHSCPQAM	KKWGWETRGG	FGGGGGGCSS	GGGGGGYIGG	NAASNNDPEM	DGEDGVSFIS
970	980	990	1000	1010	1020
PLGILYTPAL	KVMEGHGEVN	IKHYLNCSHC	EVDECHMDPE	SHKVICFCDH	GTVLAEDGVS
1030	1040	1050	1060	1070	1080
CIVSPTPEPH	LPLSLILSVV	TSALVAALVL	AFSGIMIVYR	RKHQELQAMQ	MELQSPEYKL
1090	1100	1110	1120	1130	1140
SKLRTSTIMT	DYNPNYCFAG	KTSSISDLKE	VPRKNITLIR	GLGHGAFGEV	YEGQVSGMPN
1150	1160	1170	1180	1190	1200
DPSPLQVAVK	TLPEVCSEQD	ELDFLMEALI	ISKFNHQNIV	RCIGVSLQSL	PRFILLELMA
1210	1220	1230	1240	1250	1260
GGDLKSFLRE	TRPRPSQPSS	LAMLDLLHVA	RDIACGCQYL	EENHFIHRDI	AARNCLLTCP
1270	1280	1290	1300	1310	1320
GPGRVAKIGD	FGMARDIYRA	SYYRKGGCAM	LPVKWMPPEA	FMEGIFTSKT	DTWSFGVLLW
1330	1340	1350	1360	1370	1380
EIFSLGYMPY	PSKSNQEVLE	FVTSGGRMDP	PKNCPGPVYR	IMTQCWQHQP	EDRPNFAIIL
1390	1400	1410	1420	1430	1440
ERIEYCTQDP	DVINTALPIE	YGPLVEEEEK	VPVRPKDPEG	VPPLLVSQQA	KREEERSPAA
1450	1460	1470	1480	1490	1500
PPPLPTTSSG	KAAKKPTAAE	ISVRVPRGPA	VEGGHVNMAF	SQSNPPSELH	KVHGSRNKPT
1510	1520	1530	1540	1550	1560
SLWNPTYGSW	FTEKPTKKNN	PIAKKEPHDR	GNLGLEGSCT	VPPNVATGRL	PGASLLLEPS
1570	1580	1590	1600	1610
SLTANMKEVP	LFRLRHFPCG	NVNYGYQQQG	LPLEAATAPG	AGHYEDTILK	SKNSMNQPGP