AiPD: Autoinhibited Protein Database

Q9HCM2

Gene name	PLXNA4 (KIAA1550, PLXNA4A, PLXNA4B, UNQ2820/PRO34003)
Protein name	Plexin-A4
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:91584
EC number
Protein Class

Descriptions

PlexA1 (NOV, PLXN1) plays a role in axon guidance, invasive growth and cell migration. Sema domain of PlexA1 restricts PlexA1 to a basal inactive state by binding to the remainder of the ectodomain. Deletion analysis of the PlexinA1 ectodomain demonstrates that the sema domain prevents PlexinA1 activation in the basal state. Sema-deleted PlexinA1 is constitutively active, producing cell contraction, growth cone collapse, and inhibition of neurite outgrowth. Plexin A1 is autoinhibited by its sema domain, and Sema3A/NP1 releases this inhibition. According to mouse Plexin-A3 (P70208), Plexin may possess a segment preceding C1 domain and an RDB domain as autoinhibitory elements.

Autoinhibitory domains (AIDs)

27-507 (Sema domain) SS

Target domain	1311-1864 (Plexin, cytoplasmic RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

27-507 (Sema domain)

Target domain

1311-1864 (Plexin, cytoplasmic RasGAP domain)

Relief mechanism

Partner binding (Semaphorin-induced dimerization)

Assay

1261-1345 (Segment preceding C1 domain) SS

Target domain	1311-1864 (Plexin, RasGAP domain)
Relief mechanism
Assay

AID

1261-1345 (Segment preceding C1 domain)

Target domain

1311-1864 (Plexin, RasGAP domain)

Relief mechanism

Assay

1471-1672 (RBD domain) SS

Target domain	1311-1864 (Plexin, RasGAP domain)
Relief mechanism	Partner binding
Assay

AID

1471-1672 (RBD domain)

Target domain

1311-1864 (Plexin, RasGAP domain)

Relief mechanism

Partner binding (Binding of Rho-family GTPase (Rac1 or Rnd1) in their GTP-bound active form to the RBD)

Assay

Accessory elements

No accessory elements

References

Takahashi T et al. (2001) "Plexina1 autoinhibition by the plexin sema domain", Neuron, 29, 429-39

He H et al. (2009) "Crystal structure of the plexin A3 intracellular region reveals an autoinhibited conformation through active site sequestration", Proceedings of the National Academy of Sciences of the United States of America, 106, 15610-5

Wang Y et al. (2012) "Plexins are GTPase-activating proteins for Rap and are activated by induced dimerization", Science signaling, 5, ra6

Autoinhibited structure

Activated structure

2 structures for Q9HCM2

Entry ID	Method	Resolution	Chain	Position	Source
4E74	X-ray	158 A	A	1488-1603	PDB
AF-Q9HCM2-F1	Predicted				AlphaFoldDB

1840 variants for Q9HCM2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs774204373	3	A>D		No	ExAC TOPMed gnomAD
rs774204373	3	A>V		No	ExAC TOPMed gnomAD
rs1798586813	4	M>I		No	Ensembl
rs754844378	5	P>S		No	TOPMed gnomAD
rs1406758382	6	W>*		No	gnomAD
rs1177461199	8	W>*		No	gnomAD
rs762756762	9	T>A		No	ExAC TOPMed gnomAD
rs762756762	9	T>P		No	ExAC TOPMed gnomAD
rs762756762	9	T>S		No	ExAC TOPMed gnomAD
rs1266173320	9	T>S		No	gnomAD
rs1798585736	12	L>F		No	TOPMed gnomAD
rs1798585629	13	S>F		No	TOPMed
TCGA novel	14	H>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1585245284	14	H>P		No	Ensembl
rs776771552	14	H>Y		No	1000Genomes ExAC gnomAD
rs151179709	15	L>I		No	ESP ExAC TOPMed gnomAD
rs1798584709	17	M>I		No	TOPMed gnomAD
rs565765865	17	M>L		No	TOPMed gnomAD
rs565765865	17	M>V		No	TOPMed gnomAD
rs1343654780	20	M>I		No	gnomAD
rs773414557	20	M>L		No	ExAC gnomAD
rs772223237	22	S>F		No	ExAC TOPMed gnomAD
rs1798583595	24	T>I		No	TOPMed
rs1798583595	24	T>N		No	TOPMed
rs1585245200	24	T>P		No	Ensembl
rs1287679384	26	L>F		No	gnomAD
rs1453456539	26	L>R		No	gnomAD
rs375754036	27	T>N		No	ESP TOPMed gnomAD
rs1585245164	27	T>P		No	Ensembl
rs755346984	28	R>Q		No	ExAC TOPMed gnomAD
rs113830939 RCV000947071	28	R>W		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel rs1798582463	30	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1480506891	31	A>D		No	TOPMed gnomAD
rs749633288	31	A>P		No	ExAC gnomAD
rs562844784	32	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs562844784	32	P>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1798581872	33	L>V		No	TOPMed gnomAD
rs201571349	38	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs767016079	38	R>W		No	ExAC TOPMed gnomAD
rs1234113879	39	S>P		No	TOPMed
RCV000971546 rs145024048	40	F>L		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775353699	40	F>L		No	ExAC TOPMed gnomAD
rs141077562	40	F>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs995282209	41	V>F		No	TOPMed gnomAD
rs1798580402	42	T>I		No	TOPMed
rs1294000775	44	R>*		No	gnomAD
rs1165345818	44	R>Q		No	TOPMed gnomAD
rs867468736	45	G>E		No	Ensembl
rs371104921	46	E>D		No	ESP TOPMed
rs145305830	47	P>A		No	ESP ExAC TOPMed gnomAD
rs1383120620	47	P>L		No	gnomAD
COSM4404109 COSM4404111 COSM4404110 COSM4404112	47	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs145305830	47	P>T		No	ESP ExAC TOPMed gnomAD
rs139738239	48	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM204119 COSM1221282 rs139738239 COSM1221281 COSM204118	48	A>T	oesophagus large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM5119935	48	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs769200820	49	E>K		No	ExAC TOPMed gnomAD
rs749672143	51	F>I		No	ExAC TOPMed gnomAD
rs749672143	51	F>L		No	ExAC TOPMed gnomAD
rs745548422	52	N>K		No	ExAC gnomAD
rs374730782	52	N>S		No	ESP ExAC gnomAD
rs374730782	52	N>T		No	ESP ExAC gnomAD
rs1168159233	53	H>R		No	gnomAD
TCGA novel	58	E>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs891380614	59	R>K		No	TOPMed gnomAD
rs1051243426	61	G>E		No	Ensembl
rs1307523724	63	I>V		No	TOPMed
TCGA novel	67	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	67	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	67	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777642451 COSM4849193 COSM4849191 COSM4849192 COSM4849190	68	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs374414768	70	R>Q		No	ExAC TOPMed gnomAD
rs765087543	70	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1421958866	71	I>V		No	TOPMed gnomAD
rs1798575905	72	Y>C		No	TOPMed gnomAD
TCGA novel	74	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs78248128	76	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1585244677	77	D>G		No	Ensembl
rs375715133	77	D>H		No	ESP ExAC TOPMed gnomAD
rs375715133	77	D>N		No	ESP ExAC TOPMed gnomAD
rs1798574946	80	V>D		No	TOPMed gnomAD
rs149992884	80	V>F		No	ESP ExAC TOPMed gnomAD
COSM484849 COSM1137639 rs199571283 COSM484848 COSM484847	83	T>M	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	83	T>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1452931124	84	H>D		No	gnomAD
rs1403633278	84	H>Q		No	gnomAD
COSM1622359 rs763518657 COSM1622360 COSM1622358 COSM1622361	85	E>K	liver [Cosmic]	No	cosmic curated ExAC gnomAD
rs139250180	89	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM1150567 COSM744481 COSM744483 COSM744482	89	D>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1355011226	89	D>N		No	TOPMed gnomAD
COSM72232	89	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5871867 COSM5871869 COSM5871868 COSM5871866 rs746205942	90	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs746205942	90	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1585244522	90	E>V		No	Ensembl
rs111284927	92	N>S		No	Ensembl
rs769822115	94	K>N		No	ExAC TOPMed gnomAD
rs1217644781	98	P>R		No	TOPMed
COSM204114 rs777359300 COSM204115	99	R>C	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs374157944	99	R>H		No	ESP ExAC TOPMed gnomAD
rs374157944	99	R>P		No	ESP ExAC TOPMed gnomAD
rs201411932	100	I>N		No	ESP ExAC TOPMed gnomAD
COSM1221267 COSM1221268 rs754870203 COSM1221269 COSM1221270	101	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1798570866	103	T>I		No	TOPMed
rs1798570646	105	N>D		No	Ensembl
rs535507636	108	L>M		No	1000Genomes ExAC TOPMed gnomAD
rs764262800	109	T>A		No	ExAC gnomAD
rs762890659	109	T>I		No	ExAC gnomAD
rs762890659	109	T>S		No	ExAC gnomAD
rs1798569747	110	T>I		No	Ensembl
rs1309718991	111	T>I		No	TOPMed gnomAD
rs1399516403	112	N>K		No	TOPMed gnomAD
COSM1085701 COSM1596780 COSM1085700 COSM1085702	112	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1293809219	115	N>S		No	gnomAD
TCGA novel	116	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1798568812	117	M>I		No	Ensembl
rs2116254914	117	M>V		No	Ensembl
COSM6176082 COSM6176085 COSM6176083 COSM6176084	119	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1163968022	120	I>M		No	gnomAD
TCGA novel	122	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs759964709	123	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1085699 COSM1085698 COSM1596781 rs776971734 COSM1085697	124	E>D	endometrium [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1181403014	124	E>K		No	gnomAD
rs771230316	125	N>K		No	ExAC gnomAD
rs373811440	128	I>V		No	ESP TOPMed
rs904542980	129	A>V		No	TOPMed gnomAD
rs2116254443	130	C>S		No	Ensembl
TCGA novel	135	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1041712233	137	I>T		No	Ensembl
rs1237903787	137	I>V		No	gnomAD
rs771636151	139	K>Q		No	ExAC gnomAD
rs1798565556	139	K>R		No	Ensembl
rs1348432039	142	R>S		No	TOPMed gnomAD
rs1206891499	144	E>D		No	TOPMed
rs1585244082	144	E>G		No	Ensembl
rs1585244068	145	D>G		No	Ensembl
TCGA novel	150	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3633510 COSM3633509 COSM3633508 COSM3633507	151	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1388259806	152	P>T		No	gnomAD
rs1382540323	153	Y>C		No	gnomAD
rs754951178	154	H>Y		No	ExAC gnomAD
COSM1488237 COSM1488240 COSM1488238 COSM1488239	155	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1414547923	159	Y>C		No	gnomAD
rs2116253626	162	G>S		No	Ensembl
rs1798562009	163	V>G		No	TOPMed
rs755930438	164	N>K		No	ExAC TOPMed gnomAD
rs1270192877	164	N>S		No	gnomAD
rs1798561347	165	E>D		No	gnomAD
rs1364318856	165	E>G		No	TOPMed gnomAD
rs765631133	165	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs534539514	167	G>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel rs1798560157	168	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM3922741 COSM3922743 rs141998123 COSM3922740 COSM3922742	168	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	171	G>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs146112863	174	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs146112863	174	V>L		No	ESP ExAC TOPMed gnomAD
COSM3633506 COSM3633504 COSM3633503 COSM3633505	175	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5081503	176	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1798558830	176	Y>C		No	TOPMed
rs1798558654	177	S>G		No	TOPMed gnomAD
rs1324405328	177	S>R		No	gnomAD
COSM1488233 rs766762723 COSM1488236 COSM1488235 COSM1488234	178	N>D	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760901486	181	D>G		No	ExAC gnomAD
rs772967267	182	K>N		No	ExAC TOPMed gnomAD
rs1327592323	185	I>F		No	TOPMed gnomAD
COSM3878208 rs1798557003 COSM3878207 COSM3878209 COSM3878210	186	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
COSM1239874 COSM1239872 COSM1239873 COSM1239875 rs1469319763	187	T>M	oesophagus [Cosmic]	No	cosmic curated gnomAD
rs1174767575	188	A>T		No	gnomAD
rs1288926142	190	D>E		No	TOPMed
rs1373070470	191	G>A		No	TOPMed gnomAD
TCGA novel	191	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs77047243	192	K>E		No	Ensembl
rs1055027610	192	K>N		No	TOPMed gnomAD
rs1798555167	193	P>L		No	Ensembl
rs939332304	194	E>D		No	TOPMed gnomAD
rs1249464400	194	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1585243721	195	Y>D		No	Ensembl
rs755982875	198	T>A		No	ExAC gnomAD
rs1798553779	199	I>V		No	TOPMed
COSM3633494 COSM3633491 COSM3633493 COSM3633492	200	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs778120170	201	S>T		No	ExAC gnomAD
COSM2770798 COSM2770800 COSM2770799 COSM2770797	202	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM2770801 COSM2770802 COSM2770803 COSM2770804	202	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758539978	203	K>T		No	ExAC gnomAD
COSM3878204 COSM3878202 COSM3878201 COSM3878203	204	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1228822616	205	T>I		No	gnomAD
rs552003989	207	N>S		No	1000Genomes ExAC gnomAD
rs754366028	210	A>V		No	ExAC TOPMed gnomAD
rs761142540	211	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1396367741	212	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs142904267	215	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1383797231	215	A>V		No	gnomAD
COSM1085688 rs762527511 COSM1085690 COSM1085689 COSM1596784	217	V>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1412916980	218	F>L		No	TOPMed gnomAD
COSM6176092 COSM6176093 COSM6176091 COSM6176090	219	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6176095 COSM6176097 COSM6176094 COSM6176096	219	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	219	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3878200 COSM3878198 COSM3878199 COSM3878197	222	F>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1272150577	223	V>M		No	gnomAD
rs1343967411	225	S>L		No	gnomAD
rs1563140938	228	K>R		No	Ensembl
rs1798548868	229	I>V		No	Ensembl
TCGA novel	230	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3633485 COSM3633483 COSM3633486 rs199931280 COSM3633484	231	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM6176101 COSM6176099 COSM6176098 COSM6176100	235	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1335273347	236	I>V		No	TOPMed gnomAD
rs1309111097	237	I>T		No	gnomAD
rs1798547693	238	P>R		No	Ensembl
rs748403504	240	F>L		No	ExAC gnomAD
rs1798547358	242	I>L		No	TOPMed
rs779059406	244	Y>C		No	ExAC gnomAD
rs1798546970	245	V>A		No	Ensembl
COSM1154753 COSM1085686 COSM1085685 COSM1085687	245	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1337484079	245	V>I		No	TOPMed gnomAD
COSM484844 COSM484846 rs529364377 COSM1137638 COSM484845	247	G>D	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1798546369	250	S>C		No	TOPMed
rs1183264944	252	N>S		No	gnomAD
TCGA novel	255	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1468113458	258	T>I		No	gnomAD
rs1182728817	260	Q>H		No	TOPMed gnomAD
COSM225609 rs767802388 COSM225608	263	M>I	NS [Cosmic]	No	cosmic curated ExAC gnomAD
rs1798544888	263	M>T		No	TOPMed
rs762186936	264	V>L		No	ExAC TOPMed gnomAD
rs762186936	264	V>M		No	ExAC TOPMed gnomAD
rs751303312	265	S>C		No	ExAC gnomAD
rs1485624236	265	S>P		No	TOPMed gnomAD
rs763806146	266	P>S		No	ExAC
rs1798543722	267	P>L		No	TOPMed
rs1798543894	267	P>S		No	gnomAD
rs775123147	268	G>A		No	ExAC TOPMed gnomAD
rs775123147	268	G>D		No	ExAC TOPMed gnomAD
rs1186511366	268	G>S		No	TOPMed
rs775123147	268	G>V		No	ExAC TOPMed gnomAD
rs1798542688	269	S>P		No	Ensembl
rs1222298316	270	T>A		No	gnomAD
rs776594259	271	T>P		No	ExAC TOPMed gnomAD
rs2116249671	271	T>S		No	Ensembl
rs1344143685	272	K>E		No	TOPMed gnomAD
rs1320310676	272	K>N		No	TOPMed gnomAD
rs746786569	273	E>Q		No	ExAC TOPMed gnomAD
rs1352003787	274	Q>H		No	TOPMed gnomAD
rs1463244265	275	V>M		No	TOPMed gnomAD
TCGA novel	276	Y>I	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1166398691	277	T>I		No	gnomAD
rs1798539904	280	L>F		No	TOPMed gnomAD
rs376529616	281	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1314662721	282	R>S		No	TOPMed gnomAD
rs780001780	283	L>F		No	ExAC
COSM3878194 COSM3878193 COSM3878196 COSM3878195	283	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs867369533	286	E>K		No	Ensembl
rs1305028232	288	T>A		No	gnomAD
rs200648753	289	A>D		No	1000Genomes ExAC TOPMed gnomAD
COSM4915269 COSM4915268 COSM4915270 rs200648753 COSM4915271	289	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1798537335	291	N>I		No	gnomAD
TCGA novel	291	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763894222	296	V>L		No	ExAC TOPMed gnomAD
rs763894222	296	V>M		No	ExAC TOPMed gnomAD
rs1798536429	297	P>S		No	TOPMed
TCGA novel	298	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1230265781	298	I>V		No	gnomAD
rs752332335	299	G>C		No	ExAC gnomAD
rs373905694	299	G>D		No	ESP ExAC TOPMed gnomAD
rs373905694	299	G>V		No	ESP ExAC TOPMed gnomAD
COSM3922736 COSM3922739 COSM3922737 COSM3922738	301	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779832724	302	R>C		No	ExAC TOPMed gnomAD
rs779832724	302	R>G		No	ExAC TOPMed gnomAD
rs143813209	302	R>H		No	ESP ExAC TOPMed gnomAD
rs760532980	303	S>I		No	ExAC TOPMed gnomAD
COSM6108564 COSM6108562 COSM6108565 COSM6108563	303	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1426779184	304	G>E		No	TOPMed gnomAD
rs772979972	304	G>R		No	ExAC TOPMed gnomAD
TCGA novel	304	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1585242981	305	V>G		No	Ensembl
rs1563140656	305	V>M		No	Ensembl
rs1798533707	306	E>Q		No	TOPMed gnomAD
COSM4772319 COSM4772320 COSM4772318 COSM4772317 rs564051494	308	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs149257060 COSM1448139 COSM1448140 COSM1448138 COSM1448141	308	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs564051494	308	R>S		No	1000Genomes ExAC TOPMed gnomAD
rs1429919590	310	L>V		No	TOPMed gnomAD
rs1426609251	311	Q>*		No	TOPMed gnomAD
rs1426609251	311	Q>K		No	TOPMed gnomAD
rs148555400	312	A>V		No	1000Genomes TOPMed gnomAD
rs138356216	313	A>S		No	ESP ExAC TOPMed gnomAD
rs138356216	313	A>T		No	ESP ExAC TOPMed gnomAD
rs902782256	314	Y>F		No	TOPMed gnomAD
rs1359638922	315	L>V		No	Ensembl
rs1270457708	316	S>F		No	gnomAD
rs1022392743	317	K>N		No	Ensembl
TCGA novel	318	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1798531719	318	A>T		No	Ensembl
rs199889502 COSM276821 COSM276820 COSM276819	318	A>V	large_intestine [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs764923807	320	A>D		No	ExAC gnomAD
rs201545343	320	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs764923807	320	A>V		No	ExAC gnomAD
rs1798530579	321	V>A		No	TOPMed
rs147620882	321	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs147620882	321	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs766363548	322	L>I		No	ExAC TOPMed gnomAD
rs760620863	322	L>R		No	ExAC gnomAD
COSM3633478 COSM3633475 COSM3633477 COSM3633476	324	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1214312589	325	T>I		No	TOPMed gnomAD
rs1214312589	325	T>S		No	TOPMed gnomAD
COSM3633471 COSM3633473 rs773092394 COSM3633474 COSM3633472	326	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC gnomAD
rs773092394	326	L>I		No	ExAC gnomAD
COSM6176103 COSM6176102 COSM6176105 COSM6176104	326	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	327	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1303553333	327	G>V		No	TOPMed gnomAD
rs767320667	328	V>A		No	ExAC TOPMed gnomAD
COSM3633463 COSM3633465 COSM3633466 COSM3633464	329	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761645761	330	P>L		No	ExAC gnomAD
rs1239040161	331	D>E		No	TOPMed
rs775613808	331	D>H		No	ExAC gnomAD
rs922890038	332	D>G		No	gnomAD
rs1301740921	332	D>H		No	TOPMed gnomAD
COSM5928969 COSM5928968 COSM5928967 COSM5928966	332	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1168273467	333	D>E		No	TOPMed gnomAD
rs369281855	338	V>I		No	ESP ExAC TOPMed gnomAD
rs1018483878	339	F>I		No	TOPMed gnomAD
rs1182496408	340	S>F		No	TOPMed gnomAD
rs778380178	341	K>E		No	ExAC TOPMed gnomAD
rs1563140427	343	Q>E		No	Ensembl
rs758886379	344	K>T		No	ExAC gnomAD
rs754647909	345	R>Q		No	ExAC TOPMed gnomAD
rs115629766 COSM167645 RCV000916972 COSM167644	345	R>W	large_intestine [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779570289	346	K>Q		No	ExAC TOPMed gnomAD
rs376791531 COSM3633456 COSM3633455 COSM3633458 COSM3633457	347	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD
TCGA novel	347	M>N	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs750409262	348	K>R		No	ExAC
rs1798524249 TCGA novel	349	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
TCGA novel	351	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1429028462 COSM3633454 COSM3633453 COSM3633452 COSM3633451	352	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM1085677 rs1585242454 COSM1085676 COSM1085678 COSM1596787	353	S>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs759805870	354	A>G		No	ExAC TOPMed gnomAD
COSM269910 COSM269911 COSM269912	355	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1165780680	357	I>L		No	gnomAD
rs760820215	358	F>L		No	ExAC TOPMed gnomAD
rs1239113416	358	F>L		No	Ensembl
rs760820215	358	F>V		No	ExAC TOPMed gnomAD
rs1248514927	359	I>T		No	TOPMed gnomAD
rs773899067	362	Q>K		No	ExAC gnomAD
rs1020543627	363	I>M		No	Ensembl
rs11771379	365	D>V		No	Ensembl
COSM1733146 COSM1733143 rs748520326 COSM1733144 COSM1733145	366	R>C	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757423478	366	R>H		No	ExAC TOPMed gnomAD
rs757423478	366	R>L		No	ExAC TOPMed gnomAD
COSM3394532 COSM3394530 rs779656758 COSM3394531 COSM3394533	370	R>Q	Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748991545 COSM1221264 COSM1221263 COSM1221266 COSM1221265	370	R>W	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM1085675 COSM1085673 rs2116245403 COSM1085674 COSM1596788	371	L>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs755660824	372	Q>H		No	ExAC gnomAD
rs1798519352	375	Y>F		No	Ensembl
rs781160773	376	R>Q		No	ExAC TOPMed gnomAD
rs151233036	376	R>W		No	ESP ExAC TOPMed gnomAD
rs1163987218	380	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM267205 COSM267206 COSM267207 rs1336444744	382	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1798517697	384	A>P		No	TOPMed
rs868607478	385	W>*		No	Ensembl
COSM6108566 COSM6108567 COSM6108568 COSM6108569	385	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM744487 COSM744489 COSM744488 COSM1150565	387	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1585242155	388	V>G		No	Ensembl
COSM744494 COSM1150563 COSM744495 COSM744493	388	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774581104	391	I>V		No	Ensembl
rs1798516591	392	P>L		No	TOPMed
rs1472984734	392	P>T		No	TOPMed gnomAD
rs1037534475	395	S>G		No	gnomAD
rs754166907	396	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1798515844	396	A>E		No	Ensembl
COSM163576 COSM1154752 rs1798515844 COSM1085672 COSM163577	396	A>V	Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl
rs935837043	399	T>A		No	TOPMed gnomAD
rs776102045	399	T>N		No	ExAC gnomAD
TCGA novel	399	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs746474392	402	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs907073347	402	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	405	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1465694474	405	C>Y		No	TOPMed
TCGA novel	408	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1279187396	409	M>I		No	gnomAD
rs1403845109	409	M>T		No	Ensembl
COSM340273 COSM340275 rs267601293 COSM340274	412	P>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1797693000	413	L>P		No	Ensembl
rs1454356852	416	S>T		No	TOPMed gnomAD
rs748042504	417	D>E		No	ExAC gnomAD
RCV000964480 rs142386862	417	D>N		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1381920399	419	V>A		No	TOPMed gnomAD
rs1797692364	419	V>M		No	TOPMed
COSM1221260 COSM1221258 rs887716128 COSM1221259 COSM1221257	420	R>C	large_intestine [Cosmic]	No	cosmic curated TOPMed gnomAD
rs778856713 COSM3878189 COSM3878190 COSM3878191 COSM3878192	420	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs754782288	421	G>E		No	ExAC TOPMed gnomAD
rs142997259	424	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000879847 rs142997259	424	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751577474	426	T>M		No	ExAC gnomAD
COSM5188974	428	D>E	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM376119 COSM376118 COSM376120 rs1399742014	428	D>E	lung [Cosmic]	No	cosmic curated gnomAD
rs1797690537	428	D>H		No	gnomAD
COSM1448133 COSM1448131 COSM1448132 COSM1448130	429	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633448 COSM3633447 COSM3633450 COSM3633449	430	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs775933525	431	R>C		No	ExAC TOPMed gnomAD
COSM1448126 rs944457792 COSM1448128 COSM1448129 COSM1448127	431	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM373313 COSM373311 COSM373312 rs944457792	431	R>L	lung [Cosmic]	No	cosmic curated TOPMed gnomAD
rs759874815	432	M>I		No	ExAC TOPMed gnomAD
rs139356539	433	T>A		No	ESP ExAC TOPMed gnomAD
rs770488984	433	T>M		No	ExAC TOPMed gnomAD
TCGA novel	434	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs150905373	435	V>L		No	ESP ExAC gnomAD
rs531099216	437	A>T		No	1000Genomes ExAC TOPMed gnomAD
rs1287932116	437	A>V		No	gnomAD
rs202115162	438	Y>C		No	1000Genomes ExAC TOPMed gnomAD
rs202115162	438	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1400660160	440	Y>C		No	TOPMed
rs1225829572	442	N>K		No	TOPMed gnomAD
rs2117528860	443	H>D		No	Ensembl
rs199914956	448	V>A		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3831905 COSM3831903 COSM3831904 COSM3831906	448	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs753254902	450	T>I		No	ExAC gnomAD
rs765706232	451	K>Q		No	ExAC gnomAD
rs2117528605	452	S>G		No	Ensembl
rs878865078	452	S>N		No	Ensembl
TCGA novel	457	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1801177328	458	I>T		No	gnomAD
COSM3878184 rs1801177012 COSM3878183	459	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed
rs767909165	459	R>W		No	ExAC TOPMed gnomAD
rs762298996	460	V>M		No	ExAC gnomAD
rs1801176587	463	P>S		No	TOPMed
TCGA novel	465	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374418340	466	N>K		No	ESP ExAC TOPMed gnomAD
rs1427759449	466	N>S		No	Ensembl
COSM2770628 COSM2770627 rs867833410	467	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs866434085	468	L>F		No	Ensembl
rs763403636	472	T>M		No	ExAC TOPMed gnomAD
rs930757982	473	V>L		No	TOPMed gnomAD
rs777743560	474	Q>*		No	ExAC TOPMed gnomAD
rs777743560	474	Q>K		No	ExAC TOPMed gnomAD
rs1355876382	474	Q>L		No	gnomAD
rs868408997	476	V>M		No	Ensembl
rs1166558422	478	P>H		No	TOPMed gnomAD
rs868392071	478	P>S		No	Ensembl
rs1322390992	479	G>R		No	gnomAD
rs1322390992	479	G>S		No	gnomAD
rs751224256	481	V>L		No	gnomAD
rs762255363	483	R>L		No	ExAC TOPMed gnomAD
rs762255363 COSM1085666 COSM1085665	483	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745956274 COSM452360 COSM452361	483	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
COSM3878181 COSM3878182	484	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM2770626 COSM2770625	484	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM484842 COSM484841	484	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752011100	485	M>I		No	ExAC TOPMed gnomAD
rs1378776914	486	A>V		No	Ensembl
rs1801171810	489	K>E		No	Ensembl
rs1275110471	489	K>N		No	gnomAD
rs764488585	491	H>N		No	ExAC TOPMed gnomAD
rs200301458	491	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs764488585	491	H>Y		No	ExAC TOPMed gnomAD
rs1801171073	492	E>G		No	TOPMed
COSM284103 rs769317682 COSM284104	492	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	494	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3878179 COSM3878180	495	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771180043	496	I>L		No	TOPMed gnomAD
rs759168203	496	I>T		No	ExAC gnomAD
rs771180043	496	I>V		No	TOPMed gnomAD
rs1272653375	497	M>I		No	gnomAD
rs1365949724	497	M>T		No	TOPMed gnomAD
rs776008117	499	E>A		No	ExAC gnomAD
rs865819604	500	R>M		No	gnomAD
rs746967492	500	R>S		No	ExAC gnomAD
rs777831417	501	Q>E		No	ExAC gnomAD
rs986718082	501	Q>H		No	TOPMed
TCGA novel	502	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1211997183	502	L>I		No	TOPMed gnomAD
rs1255528849	502	L>P		No	TOPMed gnomAD
rs1486871141	503	T>A		No	gnomAD
rs1562986828	504	R>G		No	Ensembl
rs1179458847	505	V>A		No	TOPMed gnomAD
RCV000892391 rs112682233	505	V>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377606857	506	P>L		No	ESP ExAC TOPMed gnomAD
rs765543966	507	V>G		No	ExAC gnomAD
rs1798863438	509	S>F		No	gnomAD
rs1292619538	510	C>Y		No	gnomAD
rs1185804937	511	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1415104250	511	G>S		No	gnomAD
rs1377048855	512	Q>L		No	TOPMed gnomAD
rs1406450350	513	Y>H		No	gnomAD
rs1440810145	514	Q>R		No	gnomAD
rs1798862443	515	S>G		No	TOPMed
TCGA novel	515	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1422169672	517	G>D		No	gnomAD
COSM452358 COSM452359 rs542202891	517	G>S	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM4919509 COSM4919508	518	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1798861860	518	E>G		No	TOPMed
COSM3633440 COSM3633439 rs1189286697	518	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs761861262	521	G>D		No	1000Genomes ExAC gnomAD
rs761861262	521	G>V		No	1000Genomes ExAC gnomAD
rs1584888617	524	D>A		No	Ensembl
COSM403857 rs369702192 COSM403858	524	D>N	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1205945729	530	C>G		No	gnomAD
rs1314562257	533	H>R		No	TOPMed gnomAD
rs1355861174	534	N>D		No	TOPMed gnomAD
COSM6108575 COSM6108574	534	N>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1217574380	534	N>S		No	TOPMed
rs1275975256	535	T>A		No	TOPMed
rs747166124	535	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	537	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs780599953	537	T>N		No	ExAC TOPMed gnomAD
COSM1622349 COSM1622350 rs371929100	538	R>Q	liver [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756522189	538	R>W		No	ExAC TOPMed gnomAD
rs2116982511	539	K>N		No	Ensembl
rs2116982526	539	K>R		No	Ensembl
rs867231738	540	E>K		No	Ensembl
rs756771943	541	R>L		No	ExAC TOPMed gnomAD
rs756771943	541	R>Q		No	ExAC TOPMed gnomAD
rs367959054	541	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs75211565	543	E>K		No	1000Genomes TOPMed gnomAD
rs75211565	543	E>Q		No	1000Genomes TOPMed gnomAD
rs751093699	544	R>Q		No	ExAC TOPMed gnomAD
COSM4828803 COSM4828802 rs867001202	544	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs763445735	545	S>F		No	ExAC TOPMed gnomAD
rs1002432987	546	K>E		No	TOPMed gnomAD
TCGA novel	547	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1382636362	547	E>K		No	gnomAD
rs752526372	548	P>A		No	ExAC gnomAD
rs1304470590 COSM1085663 COSM1085664	548	P>L	endometrium [Cosmic]	No	cosmic curated gnomAD
rs765066386	549	R>C		No	ExAC TOPMed gnomAD
rs190791576 COSM1085661 COSM1085662	549	R>H	liver Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs765066386	549	R>S		No	ExAC TOPMed gnomAD
COSM3633437 COSM3633438	550	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs773489732	552	A>S		No	ExAC gnomAD
rs1383252350	552	A>V		No	gnomAD
rs187775340	553	S>L		No	1000Genomes ExAC TOPMed gnomAD
COSM1731151 rs2060004223 COSM1731150	555	M>I	liver [Cosmic]	No	cosmic curated Ensembl
rs768581615	555	M>R		No	ExAC gnomAD
rs768581615	555	M>T		No	ExAC gnomAD
rs1444344304	555	M>V		No	gnomAD
TCGA novel	556	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1562979370	557	Q>K		No	Ensembl
COSM5141578	557	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1798406253	559	V>A		No	Ensembl
rs770346853	560	R>Q		No	ExAC TOPMed gnomAD
rs374091023	560	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs746217475	561	L>M		No	ExAC gnomAD
rs781639554	562	T>A		No	ExAC TOPMed gnomAD
rs756936895	562	T>K		No	ExAC TOPMed gnomAD
rs756936895 COSM379439 COSM241191	562	T>M	lung Variant assessed as Somatic; MODERATE impact. large_intestine prostate [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777365293	564	H>Q		No	ExAC TOPMed gnomAD
rs913413740	564	H>R		No	TOPMed
rs1213283670	564	H>Y		No	gnomAD
rs1291453076	568	I>V		No	TOPMed gnomAD
rs1798404881	569	S>F		No	Ensembl
rs1269653217	569	S>P		No	gnomAD
rs1224985085	570	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM5115461 rs752672355 COSM204061	570	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs765155911	571	S>F		No	ExAC gnomAD
rs1414488236	573	Y>C		No	gnomAD
COSM3633436 COSM3633435	574	N>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs759386370 COSM599243 COSM6108578 COSM599242 COSM6108579	574	N>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs143690954 COSM1221277 COSM1221278	575	V>M	kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1393928980	576	L>M		No	TOPMed gnomAD
rs1393928980	576	L>V		No	TOPMed gnomAD
rs771637844	578	V>G		No	ExAC gnomAD
rs1258350827	578	V>L		No	TOPMed
rs747734349	579	L>V		No	ExAC gnomAD
rs373660056	581	T>M		No	ESP ExAC TOPMed gnomAD
COSM1085657 COSM1085658	581	T>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM744497 COSM744498	582	Y>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	582	Y>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1798371726	583	N>D		No	TOPMed
rs1350414019	583	N>S		No	gnomAD
TCGA novel	584	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1280571401	585	P>L		No	gnomAD
COSM5634051 COSM5634050	588	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1330065 COSM1330064	589	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs372562534 COSM2770603 COSM2770604	591	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
COSM3662928 COSM3662927 rs767272765	592	N>S	liver [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs767272765	592	N>T		No	ExAC TOPMed gnomAD
rs752916288	594	T>N		No	ExAC gnomAD
TCGA novel	597	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759656711	599	S>A		No	ExAC gnomAD
rs1798369636 COSM2770601 COSM2770602	601	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs766783467	601	M>T		No	ExAC gnomAD
rs1798369305	602	D>E		No	gnomAD
TCGA novel	602	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761187852	602	D>V		No	ExAC gnomAD
rs1286851918	602	D>Y		No	TOPMed
TCGA novel	603	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	606	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs773974153	606	V>L		No	ExAC TOPMed gnomAD
rs773974153 COSM599245 COSM599244	606	V>M	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs768198205	607	G>D		No	ExAC gnomAD
rs1225871847	608	N>S		No	gnomAD
rs2116977473	609	Q>L		No	Ensembl
rs1294845378	619	E>K		No	gnomAD
rs1584871631	620	V>G		No	Ensembl
rs533775501	621	P>A		No	TOPMed gnomAD
rs1798367557	621	P>L		No	Ensembl
COSM4936770 COSM4936771 rs533775501	621	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs780870391	622	R>Q		No	ExAC TOPMed gnomAD
rs1428537805	622	R>W		No	gnomAD
rs1221706618	623	I>T		No	gnomAD
rs757094198	624	I>N		No	ExAC TOPMed gnomAD
rs371475820	625	T>I		No	ESP ExAC TOPMed gnomAD
TCGA novel	626	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779273353	626	E>K		No	ExAC gnomAD
rs1798366758	627	N>S		No	TOPMed
rs1173254306	628	G>R		No	gnomAD
rs1798319181	628	G>V		No	TOPMed
rs1798318980	629	D>N		No	TOPMed
rs1476587693	630	H>N		No	TOPMed gnomAD
rs756199653	630	H>Q		No	ExAC gnomAD
rs1798318686	631	H>N		No	Ensembl
rs1220375719	631	H>R		No	gnomAD
rs768011905 COSM3698177 COSM3698176	632	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs755385989	633	V>I		No	ExAC TOPMed gnomAD
COSM396232 COSM396233 rs371316009	636	Q>L	lung [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs371316009	636	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201667935	639	S>A		No	ExAC TOPMed gnomAD
COSM3633430 COSM3633429 rs2116970731	641	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
TCGA novel	642	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1448123 COSM1448124	643	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1460318926	643	G>R		No	TOPMed gnomAD
COSM421596 rs1460318926 COSM421595	643	G>S	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1417826927	643	G>V		No	gnomAD
rs776766283	644	M>V		No	ExAC TOPMed gnomAD
rs1584869899	645	T>P		No	Ensembl
rs1012133330	647	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM1085654 COSM1085653	647	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1175113649	650	S>R		No	gnomAD
rs1798316179	652	V>F		No	Ensembl
rs746877578	655	N>S		No	ExAC gnomAD
TCGA novel	656	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1330066 rs771852886 COSM1330067	658	V>I	ovary [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1798315559	659	H>R		No	gnomAD
TCGA novel	660	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756961353	661	S>L		No	ExAC TOPMed gnomAD
COSM744500 COSM744499	663	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1798216693	664	S>P		No	Ensembl
rs186378769	666	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs186378769	666	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1645271507	667	E>K		No	TOPMed
rs757302168	669	P>S		No	ExAC TOPMed gnomAD
rs747553022	670	Y>C		No	ExAC gnomAD
rs747553022	670	Y>S		No	ExAC gnomAD
rs199651527	671	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs199651527	671	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs754690916	671	R>H		No	ExAC gnomAD
COSM367483 COSM367482 rs199651527	671	R>S	lung pancreas [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1347487839	673	H>Y		No	gnomAD
TCGA novel	674	W>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760233715	675	C>R		No	ExAC gnomAD
rs1562976136	676	K>T		No	Ensembl
rs1175090188	677	Y>C		No	gnomAD
rs761601320	678	R>Q		No	ExAC TOPMed gnomAD
rs767480923	678	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs905322637	681	C>R		No	TOPMed
rs1798213866	683	H>Q		No	Ensembl
rs1311505461	683	H>R		No	TOPMed gnomAD
rs1342770897 COSM599246 COSM599247	683	H>Y	lung [Cosmic]	No	cosmic curated gnomAD
rs950524406	684	D>E		No	Ensembl
rs1432455576	684	D>N		No	gnomAD
rs1026475114	687	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1026475114	687	T>S		No	TOPMed gnomAD
COSM1085652 COSM1085651	688	C>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774229305	689	S>F		No	ExAC
rs997228646	694	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs200493064	694	R>P		No	1000Genomes ExAC TOPMed gnomAD
COSM452356 rs200493064 COSM452357	694	R>Q	breast [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs776801633	695	V>L		No	ExAC TOPMed gnomAD
TCGA novel	695	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM599249 COSM599248 rs1478138796	696	K>N	lung [Cosmic]	No	cosmic curated gnomAD
rs771064661	698	P>A		No	ExAC gnomAD
rs771064661	698	P>S		No	ExAC gnomAD
rs138963899	699	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs1257802436	700	D>G		No	gnomAD
rs1419194104	702	P>A		No	TOPMed gnomAD
rs1330038410	702	P>L		No	gnomAD
rs1446908991	703	Q>*		No	gnomAD
rs1402298285	703	Q>H		No	gnomAD
TCGA novel	704	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1797786925	706	R>*		No	Ensembl
rs766893062	706	R>L		No	ExAC TOPMed gnomAD
COSM1085650 rs766893062 COSM1085649	706	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs763987810	708	D>E		No	ExAC TOPMed gnomAD
rs751427365	708	D>H		No	ExAC TOPMed gnomAD
rs751427365	708	D>N		No	ExAC TOPMed gnomAD
COSM1085647 rs1797786408 COSM1085648	709	K>N	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated TOPMed
rs776896102	710	I>M		No	ExAC gnomAD
rs762730043	710	I>N		No	ExAC TOPMed gnomAD
rs762730043	710	I>T		No	ExAC TOPMed gnomAD
rs1797785827	712	V>G		No	TOPMed
rs771154749	712	V>M		No	ExAC TOPMed gnomAD
rs1222451103	713	P>S		No	TOPMed gnomAD
COSM3698175 COSM3698174 rs1308095027	714	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1208902769	715	E>G		No	TOPMed gnomAD
rs1584850793	716	V>G		No	Ensembl
rs1584850803	716	V>M		No	Ensembl
rs1300699428	719	P>S		No	gnomAD
TCGA novel	720	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs912665907	720	I>V		No	TOPMed gnomAD
rs377154325 COSM1548201 COSM1548200	721	T>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1398761403	724	A>S		No	TOPMed gnomAD
rs1398761403	724	A>T		No	TOPMed gnomAD
rs749661342	726	N>D		No	ExAC
rs1584850711	726	N>T		No	Ensembl
COSM3878173 COSM3878174	727	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633422 COSM3633421	728	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1441851268	729	Q>R		No	gnomAD
rs755837883	731	Q>H		No	ExAC TOPMed gnomAD
COSM5109891	731	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3878171 COSM3878172	732	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs372636704	735	R>C		No	ESP TOPMed gnomAD
rs749990321	735	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs780799576	736	G>S		No	ExAC gnomAD
rs2116901255	738	E>D		No	Ensembl
rs1380763400	738	E>K		No	TOPMed gnomAD
rs1446790707	739	C>R		No	gnomAD
rs764003949	740	I>M		No	ExAC gnomAD
rs752492669	742	N>K		No	ExAC gnomAD
rs1797782246	743	I>T		No	TOPMed
rs1797782338	743	I>V		No	gnomAD
rs764976407 COSM322727 COSM322728	746	S>G	lung [Cosmic]	No	cosmic curated ExAC gnomAD
rs1368155059	746	S>N		No	gnomAD
rs368940551	746	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs773285975	747	E>K		No	ExAC TOPMed gnomAD
rs1242278385	749	R>*		No	gnomAD
rs138897803	749	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs2116900973	752	A>V		No	Ensembl
TCGA novel	753	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1284623467	754	R>C		No	TOPMed gnomAD
rs770256694 COSM4715934 COSM4715935	754	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs770256694	754	R>P		No	ExAC TOPMed gnomAD
COSM352208 rs1477812831 COSM352207	757	S>N	lung [Cosmic]	No	cosmic curated gnomAD
TCGA novel	758	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs745586363	759	S>C		No	ExAC gnomAD
COSM5191744 rs756860928	760	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1208747385	762	C>R		No	gnomAD
COSM484839 COSM484840	763	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1797779989	763	Q>R		No	Ensembl
rs746507226	764	N>H		No	ExAC TOPMed gnomAD
rs758354693	765	T>A		No	ExAC gnomAD
rs201526825	765	T>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs758354693	765	T>P		No	ExAC gnomAD
rs1797779217 COSM452355 COSM452354	766	S>F	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs1401637917	766	S>T		No	TOPMed gnomAD
rs1200439799	767	Y>H		No	TOPMed gnomAD
rs1487492982	773	E>K		No	TOPMed gnomAD
rs765669169	774	I>V		No	ExAC gnomAD
rs1222068505	775	N>K		No	gnomAD
rs1007334638	775	N>S		No	TOPMed gnomAD
rs1323681345	776	N>K		No	TOPMed gnomAD
TCGA novel	777	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760032714	778	P>L		No	ExAC gnomAD
rs771286720	779	V>M		No	ExAC gnomAD
rs1390699538	780	E>Q		No	TOPMed gnomAD
TCGA novel	781	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1797507137	782	T>I		No	TOPMed
COSM257760 COSM257759	784	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1085644 rs374819408 COSM1085643	784	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs747651132	786	N>H		No	ExAC gnomAD
rs181597184	787	G>E		No	1000Genomes ExAC TOPMed gnomAD
rs1266617127	788	H>N		No	TOPMed gnomAD
rs1266617127	788	H>Y		No	TOPMed gnomAD
rs749196607	790	N>I		No	ExAC gnomAD
rs749196607	790	N>S		No	ExAC gnomAD
rs779740218	793	N>S		No	ExAC TOPMed gnomAD
rs879079250	794	P>L		No	Ensembl
COSM1742320 COSM1742319	794	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1797505697	795	A>V		No	TOPMed gnomAD
rs1288219162	798	K>N		No	gnomAD
rs778139345	798	K>T		No	ExAC TOPMed gnomAD
rs1340685916	800	H>P		No	gnomAD
COSM3411597 COSM3411596 rs970275454	800	H>Q	central_nervous_system Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated TOPMed NCI-TCGA Cosmic
rs1340685916	800	H>R		No	gnomAD
rs1400855558	803	K>E		No	gnomAD
rs1420720941	803	K>T		No	Ensembl
rs1797484440	805	G>R		No	TOPMed
rs1016415436	806	A>D		No	TOPMed
rs1016415436	806	A>G		No	TOPMed
rs1797484206	807	M>I		No	TOPMed
TCGA novel	808	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs749236159	808	R>H		No	ExAC TOPMed gnomAD
rs749236159	808	R>L		No	ExAC TOPMed gnomAD
COSM744503 COSM744504	809	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1421434630	809	E>K		No	gnomAD
rs1169640917	810	S>T		No	gnomAD
rs1185670369	812	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1425586989	812	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1584836998	820	D>A		No	1000Genomes
rs781078322	822	A>S		No	ExAC TOPMed gnomAD
rs781078322	822	A>T		No	ExAC TOPMed gnomAD
rs1797482697	824	G>V		No	TOPMed
rs748341258	826	C>G		No	ExAC gnomAD
rs1797482411	827	Q>L		No	TOPMed
rs778900416	828	G>A		No	ExAC gnomAD
COSM3922729 COSM3922728	828	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1320443121	829	P>L		No	gnomAD
rs1295179792	831	Q>H		No	TOPMed
rs1797481866	831	Q>K		No	TOPMed
rs2116863677	832	C>S		No	Ensembl
rs1797481539	833	T>A		No	TOPMed
rs1339550125	833	T>I		No	gnomAD
rs756544431	835	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs377259057	835	R>H		No	ESP ExAC TOPMed gnomAD
rs756544431	835	R>S		No	ExAC TOPMed gnomAD
rs1249418397	837	H>N		No	TOPMed
COSM6108587 COSM6108586	839	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM452353 COSM452352	839	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1584836828	839	P>S		No	Ensembl
rs572885090	840	A>D		No	TOPMed
COSM3878167 COSM3878168	840	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1196049822	842	E>D		No	TOPMed gnomAD
rs1341132088	842	E>K		No	TOPMed
rs1330582395	843	S>I		No	gnomAD
rs2116863462	844	Q>R		No	Ensembl
rs1484474940	845	W>C		No	TOPMed
rs1797480102	845	W>L		No	Ensembl
rs761481407	847	E>G		No	ExAC gnomAD
COSM3633416 COSM3633415	850	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2116863389	851	A>T		No	Ensembl
rs2116863373	852	K>N		No	Ensembl
rs1797479637	853	S>N		No	TOPMed
rs1166417000	855	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1797479248	856	T>K		No	Ensembl
rs762524000	858	P>L		No	ExAC TOPMed gnomAD
rs1189639027	858	P>T		No	gnomAD
rs1199808840	859	R>C		No	gnomAD
rs201337636 COSM1085639 COSM1085640	859	R>H	large_intestine endometrium [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1797478390	861	T>A		No	TOPMed
TCGA novel	861	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs868185153	862	E>K		No	Ensembl
rs1797330775	864	I>T		No	Ensembl
rs2116844960	865	P>A		No	Ensembl
rs764802046 COSM1085637 COSM1085638	865	P>L	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
COSM5406538 COSM5406537	865	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs770906895	866	V>E		No	ExAC gnomAD
rs776688433	866	V>L		No	ExAC gnomAD
rs768934938	870	R>L		No	ExAC TOPMed gnomAD
rs768934938	870	R>Q		No	ExAC TOPMed gnomAD
COSM1221271 rs772814018 COSM1221272	870	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1423606872	873	G>D		No	gnomAD
rs1584830888	873	G>S		No	TOPMed
rs1449931973	875	K>R		No	TOPMed
rs1316578939	878	I>V		No	TOPMed gnomAD
rs376155203 COSM744506 COSM744505	879	R>L	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs376155203	879	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs553027844	885	L>M		No	1000Genomes ExAC gnomAD
rs1797328717	885	L>P		No	TOPMed
COSM4539171 COSM4539170	886	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780941934 COSM1085635 COSM1085636	888	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs751969293	888	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs751969293	888	R>P		No	ExAC TOPMed gnomAD
COSM4928650 COSM4928649	889	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633411 COSM3633412 rs1003358330	889	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs752262566	890	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs758102610	890	I>V		No	ExAC gnomAD
rs62622406	891	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1433241204	891	A>V		No	gnomAD
rs1357476064	892	S>F		No	gnomAD
rs766421941	893	H>Q		No	ExAC TOPMed gnomAD
rs372345888	893	H>R		No	ESP ExAC TOPMed gnomAD
rs1457935019	895	K>E		No	TOPMed gnomAD
rs1797326584	897	A>V		No	TOPMed gnomAD
rs1476319066	898	G>D		No	TOPMed gnomAD
rs1797326493	898	G>S		No	Ensembl
COSM1496514 COSM1496513 rs763272431	899	V>M	kidney [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM744508 COSM744507	900	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1486671029	900	E>K		No	gnomAD
rs373695995	900	E>V		No	ESP ExAC TOPMed gnomAD
COSM4821058 COSM4821057	901	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs926075483	902	S>T		No	Ensembl
rs1797325531	903	P>H		No	Ensembl
rs745956218	903	P>S		No	ExAC gnomAD
COSM3878163 COSM3878164	904	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs911290108	905	V>A		No	TOPMed
COSM304259 COSM304260	905	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771494951	906	D>G		No	ExAC TOPMed gnomAD
rs781193030	906	D>N		No	ExAC TOPMed gnomAD
rs1317069945	907	G>D		No	gnomAD
rs747435244	907	G>S		No	ExAC TOPMed gnomAD
rs1230207635	909	I>V		No	TOPMed
COSM1448117 COSM1448118	910	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1797324389	910	P>L		No	TOPMed
rs1562915226	912	E>K		No	Ensembl
COSM2770521 COSM2770522	913	Q>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1371023231	913	Q>R		No	TOPMed gnomAD
rs1797179294	914	I>V		No	TOPMed
rs755552115	915	V>L		No	ExAC TOPMed gnomAD
rs755552115	915	V>M		No	ExAC TOPMed gnomAD
COSM6176115 COSM6176114	917	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs199612236	918	M>I		No	1000Genomes ExAC TOPMed gnomAD
rs767364952	919	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1438951432	920	E>K		No	TOPMed gnomAD
rs757164280	921	A>D		No	ExAC
rs1797178524	921	A>P		No	Ensembl
rs757164280	921	A>V		No	ExAC
rs1797178120	924	S>I		No	Ensembl
rs376410273	924	S>R		No	ESP ExAC TOPMed gnomAD
rs1264699732	925	Q>H		No	gnomAD
rs1487379420	925	Q>R		No	gnomAD
rs766538861	927	A>E		No	ExAC TOPMed gnomAD
rs776813941	927	A>S		No	ExAC TOPMed gnomAD
rs776813941	927	A>T		No	ExAC TOPMed gnomAD
rs766538861	927	A>V		No	ExAC TOPMed gnomAD
rs760667477	928	G>D		No	ExAC TOPMed gnomAD
rs1562912338	929	F>I		No	Ensembl
COSM3878162 rs773275001 COSM3878161	929	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA Cosmic
rs141839043	930	V>L		No	1000Genomes ExAC TOPMed gnomAD
COSM287545 COSM287544 rs141839043	930	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs2116822385	932	I>V		No	Ensembl
rs371166451	934	V>M		No	ESP ExAC TOPMed gnomAD
rs1797176966	935	A>S		No	Ensembl
rs1029208298	936	V>M		No	TOPMed
rs779555562	938	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs779555562	938	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs201566452	938	R>W		No	ESP ExAC TOPMed gnomAD
rs1367090318	939	P>S		No	TOPMed gnomAD
rs1156235299	940	E>V		No	gnomAD
rs745387882	942	M>T		No	ExAC gnomAD
rs1797175960	943	A>D		No	TOPMed
rs1057400085	944	R>L		No	TOPMed gnomAD
rs1057400085	944	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs369424457	944	R>W		No	ESP ExAC TOPMed gnomAD
rs1797175632	945	S>A		No	TOPMed gnomAD
TCGA novel	946	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1584824595	948	L>F		No	Ensembl
rs548914859	948	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA gnomAD
rs2116822028	949	Y>C		No	Ensembl
rs1797175044	950	Y>F		No	TOPMed gnomAD
COSM3633401 COSM3633402	952	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1382993783	952	M>T		No	TOPMed gnomAD
rs1797174711	952	M>V		No	gnomAD
rs1796922378	953	T>I		No	TOPMed
rs1796922301	954	L>P		No	Ensembl
rs1796922177	956	L>F		No	Ensembl
rs1796922177	956	L>V		No	Ensembl
COSM744510 rs1264323157 COSM744509	957	S>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
COSM3878159 COSM3878160	958	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM268438 COSM268437	958	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764897990	959	L>M		No	ExAC TOPMed gnomAD
rs1796921788	960	K>T		No	gnomAD
rs1796921605	961	P>S		No	TOPMed
rs1796921520	962	S>I		No	TOPMed
rs1796921446	962	S>R		No	TOPMed
rs780610869	963	R>G		No	ExAC TOPMed gnomAD
rs374103757	963	R>L		No	ESP ExAC TOPMed gnomAD
rs374103757	963	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs780610869	963	R>W		No	ExAC TOPMed gnomAD
COSM2153634 COSM2153633	964	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1432838450	965	P>T		No	TOPMed gnomAD
COSM5126200	966	M>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs996563664 COSM1448114 COSM1448113	966	M>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA
rs1796920711	966	M>T		No	TOPMed
rs1326680548	966	M>V		No	gnomAD
rs752446626	968	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1381455452	970	T>P		No	TOPMed gnomAD
rs1337294647	974	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1796919940	977	T>A		No	TOPMed
rs1796919825	977	T>I		No	TOPMed
COSM1085631 COSM1085632	978	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1431001160	980	N>D		No	TOPMed gnomAD
rs756321086	981	A>S		No	ExAC TOPMed gnomAD
rs1397806283	981	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM1448112 COSM1448111	982	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1475843988	983	S>N		No	gnomAD
rs761967324	985	V>M		No	ExAC TOPMed gnomAD
rs918009709	986	V>L		No	Ensembl
rs1243898777	988	M>I		No	TOPMed gnomAD
rs891086396	988	M>T		No	TOPMed
rs1796918505	989	F>S		No	Ensembl
rs1185933182	992	Q>R		No	gnomAD
rs1456863131	993	P>A		No	gnomAD
TCGA novel	993	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1456863131	993	P>T		No	gnomAD
rs1487050943	995	L>V		No	TOPMed gnomAD
rs1796917782	996	F>S		No	Ensembl
COSM744511 rs1261798834 COSM744512	997	H>R	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	998	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1796847543	998	R>S		No	Ensembl
rs1404515145	999	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs867762798	999	R>L		No	gnomAD
rs867762798 COSM1085630 COSM1085629	999	R>Q	lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs766035851	1000	S>F		No	ExAC gnomAD
rs1417952203	1001	P>L		No	TOPMed gnomAD
rs1159646554	1002	S>F		No	gnomAD
rs1363706332	1002	S>P		No	Ensembl
TCGA novel	1003	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs940032970	1003	Y>H		No	TOPMed
rs988781882	1007	N>S		No	Ensembl
rs771539183	1012	D>E		No	ExAC TOPMed gnomAD
rs1199027645	1014	V>L		No	TOPMed gnomAD
rs1224332136	1016	E>D		No	gnomAD
COSM4401820 COSM4401821	1016	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2116764838	1017	M>K		No	Ensembl
rs1035974331	1017	M>V		No	Ensembl
rs1487021361	1019	V>L		No	gnomAD
rs768398102	1020	S>L		No	ExAC TOPMed gnomAD
rs768398102	1020	S>W		No	ExAC TOPMed gnomAD
rs954146106	1021	V>L		No	TOPMed
rs1272817061	1023	V>M		No	gnomAD
rs1796844348	1025	R>G		No	TOPMed gnomAD
rs1796844260	1025	R>S		No	Ensembl
COSM1448110 COSM1448109	1026	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs371684264	1027	K>N		No	ESP ExAC TOPMed gnomAD
rs747206524 COSM599261 COSM6108591 COSM6108590 COSM599260	1028	I>M	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1796843851	1029	H>Q		No	Ensembl
rs368270517	1029	H>Y		No	ESP ExAC TOPMed gnomAD
TCGA novel	1030	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs758495689	1030	Q>H		No	ExAC gnomAD
rs1796843572	1031	D>G		No	gnomAD
rs1796843672	1031	D>N		No	Ensembl
COSM1330069 COSM1330068	1031	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs374302351	1033	V>I		No	ESP TOPMed gnomAD
rs1796843279	1035	Q>E		No	gnomAD
rs753212839	1035	Q>R		No	ExAC TOPMed gnomAD
rs553022974	1037	V>A		No	1000Genomes ExAC TOPMed gnomAD
rs1480963183	1037	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs200939541	1038	E>K		No	ESP ExAC TOPMed gnomAD
rs200939541	1038	E>Q		No	ESP ExAC TOPMed gnomAD
rs766688960	1038	E>V		No	ExAC gnomAD
COSM3633395 rs1796842382 COSM3633396	1039	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1796842285	1042	I>V		No	Ensembl
rs117458710	1043	V>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs768648880	1044	R>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM452348 rs773666064 COSM452349	1044	R>W	Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1032018251	1045	I>T		No	TOPMed
rs775468897	1047	P>S		No	ExAC gnomAD
rs1001907546	1048	E>Q		No	Ensembl
rs1796841004	1049	W>C		No	Ensembl
rs1231612496	1050	S>T		No	TOPMed gnomAD
rs1324603180	1051	I>L		No	TOPMed
rs769694663	1052	V>I		No	ExAC TOPMed gnomAD
rs1270800921	1053	S>I		No	gnomAD
rs1796731394	1055	N>S		No	TOPMed
rs961082873	1058	I>V		No	TOPMed
rs201451359	1059	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201451359 COSM276817 COSM276818	1059	A>T	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1059	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1443859672	1060	V>A		No	gnomAD
rs200738128	1060	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs763721395	1061	W>R		No	ExAC TOPMed gnomAD
rs762552168	1062	G>E		No	ExAC gnomAD
rs2116746500	1063	T>A		No	Ensembl
COSM1448108	1063	T>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs752188501	1064	H>R		No	ExAC gnomAD
rs866840133	1064	H>Y		No	Ensembl
TCGA novel	1065	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1030572496	1067	L>F		No	Ensembl
rs551870851	1067	L>H		No	1000Genomes ExAC TOPMed gnomAD
rs759499382	1068	I>V		No	ExAC gnomAD
rs1408383736	1069	Q>H		No	gnomAD
TCGA novel	1069	Q>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs776522827	1074	R>C		No	ExAC gnomAD
rs770599241	1074	R>H		No	ExAC TOPMed gnomAD
TCGA novel	1075	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM5097650	1075	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768791213	1077	H>P		No	ExAC gnomAD
rs768791213	1077	H>R		No	ExAC gnomAD
rs1796728056	1078	G>E		No	Ensembl
rs977634133	1078	G>R		No	TOPMed
rs371488243	1079	G>R		No	ESP TOPMed gnomAD
rs1158535125	1082	H>Y		No	TOPMed gnomAD
rs368064887	1083	I>V		No	ESP ExAC TOPMed gnomAD
rs1192482447	1085	I>N		No	TOPMed gnomAD
rs377289393	1087	E>D		No	Ensembl
rs1429183165	1087	E>K		No	gnomAD
rs1584807012	1088	V>G		No	Ensembl
COSM1085625 COSM1085626	1089	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779588529	1091	A>S		No	ExAC TOPMed gnomAD
COSM1085623 rs779588529 COSM1085624	1091	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1360760220	1092	T>A		No	gnomAD
rs1341611150	1094	M>I		No	gnomAD
rs778613376	1095	T>I		No	ExAC gnomAD
rs371329097 COSM4153842 COSM4153841	1098	A>V	ovary [Cosmic]	No	cosmic curated 1000Genomes ESP gnomAD
COSM3831899 COSM3831898	1100	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756017390	1100	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1376707735	1101	L>F		No	Ensembl
rs1334269137	1102	A>D		No	TOPMed gnomAD
rs200118897 COSM375346 COSM375345	1102	A>T	lung urinary_tract [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1334269137	1102	A>V		No	TOPMed gnomAD
rs763200859	1104	G>D		No	ExAC TOPMed gnomAD
rs1796706801	1105	P>A		No	Ensembl
rs775678338	1105	P>L		No	ExAC
rs1394137246	1106	D>A		No	gnomAD
rs1462734508	1107	H>Q		No	gnomAD
rs765370862	1107	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
COSM4892811 COSM4892812	1108	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs113958313	1108	Q>R		No	Ensembl
rs1374818339	1109	S>P		No	TOPMed gnomAD
rs1374818339	1109	S>T		No	TOPMed gnomAD
rs1161789121	1110	D>E		No	TOPMed gnomAD
rs1796705766	1110	D>Y		No	Ensembl
rs370609369	1111	L>M		No	ESP ExAC TOPMed gnomAD
RCV000948791 rs199953148	1112	T>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199953148	1112	T>S		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM163575 rs200749903 COSM1319022	1113	E>K	Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1114	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1116	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2770468 COSM2770467 rs377366720	1116	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs1194852432	1117	E>D		No	TOPMed gnomAD
rs911096941	1121	I>N		No	TOPMed
rs1051350858	1124	N>D		No	gnomAD
TCGA novel	1124	N>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs544769667	1125	V>F		No	1000Genomes ExAC TOPMed gnomAD
rs544769667	1125	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs1315623795	1126	Q>R		No	gnomAD
rs1796703632 COSM3633389 COSM3633390	1127	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic gnomAD
rs577716425	1127	S>P		No	1000Genomes ExAC TOPMed gnomAD
rs1796703306	1129	L>F		No	TOPMed gnomAD
rs1796703306	1129	L>I		No	TOPMed gnomAD
rs1796703055	1130	I>L		No	gnomAD
rs1796702968	1130	I>N		No	gnomAD
rs757044562	1131	L>F		No	ExAC gnomAD
rs757044562	1131	L>V		No	ExAC gnomAD
rs1424084694	1133	K>N		No	gnomAD
rs765462718	1134	T>S		No	ExAC gnomAD
rs1311950665	1135	N>S		No	Ensembl
rs1796702117	1136	F>S		No	Ensembl
rs1796702043	1137	T>I		No	gnomAD
COSM3922725 COSM3922724 rs267601289	1140	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl NCI-TCGA
rs753895846	1142	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs753895846	1142	P>R		No	ExAC gnomAD
rs1796701511	1143	V>G		No	TOPMed
rs1796701600	1143	V>L		No	TOPMed
rs1796701600	1143	V>M		No	TOPMed
rs1796701158	1145	E>D		No	Ensembl
rs1438912738	1145	E>K		No	gnomAD
rs1796701036	1146	A>P		No	Ensembl
rs1796701036	1146	A>T		No	Ensembl
rs1437981606	1146	A>V		No	gnomAD
rs1796700875	1147	F>I		No	TOPMed gnomAD
rs1796700875	1147	F>L		No	TOPMed gnomAD
rs761137076	1148	G>D		No	ExAC TOPMed gnomAD
rs1796700671	1149	P>T		No	Ensembl
COSM3633386 COSM3633385	1151	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1154	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1796700319	1154	E>Q		No	Ensembl
rs1796700242	1155	L>V		No	TOPMed
rs997485303	1156	K>N		No	TOPMed gnomAD
rs1348496859	1157	P>T		No	gnomAD
rs1257387261	1158	G>D		No	Ensembl
COSM484836 COSM484835 rs774798274	1159	T>M	kidney Variant assessed as Somatic; MODERATE impact. central_nervous_system [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748926472	1160	P>L		No	ExAC gnomAD
rs779467599	1162	I>S		No	ExAC TOPMed gnomAD
rs779467599	1162	I>T		No	ExAC TOPMed gnomAD
rs201920889	1163	L>V		No	TOPMed gnomAD
COSM3633382 COSM3633381	1164	K>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1796699080	1164	K>M		No	Ensembl
rs923275315	1167	N>T		No	Ensembl
rs1316679645	1167	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1584805825	1169	I>T		No	Ensembl
rs746921698 COSM1221261 COSM1221262	1170	P>L	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM139734 COSM3633380 rs1425453945	1170	P>S	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs192855926	1171	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs749537432	1172	V>M		No	ExAC TOPMed gnomAD
rs1258316322	1173	A>G		No	TOPMed gnomAD
rs1403699218	1174	G>R		No	gnomAD
COSM1448102 COSM1448101	1175	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3778120 rs1168515230 COSM3778119	1175	G>S	urinary_tract [Cosmic]	No	cosmic curated TOPMed gnomAD
rs201842720	1176	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767664645	1177	V>M		No	ExAC TOPMed gnomAD
COSM3878154 COSM3878153	1180	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1213096626	1183	V>M		No	gnomAD
rs1416252458	1185	V>A		No	TOPMed
rs1399751185	1185	V>I		No	TOPMed
rs763382097	1187	E>D		No	ExAC gnomAD
rs1584805685	1187	E>G		No	Ensembl
rs1437838156	1188	K>R		No	gnomAD
rs775660715	1189	P>L		No	ExAC TOPMed gnomAD
rs1796674265	1190	C>R		No	Ensembl
rs759149224	1192	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs770408803	1194	V>L		No	ExAC TOPMed gnomAD
rs770408803	1194	V>M		No	ExAC TOPMed gnomAD
COSM3878152 COSM3878151	1195	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6176117 COSM6176116	1196	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2116737338	1196	D>N		No	Ensembl
rs1796673569	1198	Q>E		No	Ensembl
rs773198475	1202	E>A		No	ExAC gnomAD
COSM263013 rs1241211048 COSM263014	1202	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1241211048	1202	E>Q		No	gnomAD
rs1796673035	1203	S>F		No	Ensembl
rs1796672942	1204	P>L		No	TOPMed
rs1239026039	1205	N>I		No	gnomAD
rs747985861	1207	I>V		No	ExAC TOPMed gnomAD
rs2116737047 TCGA novel	1208	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA 1000Genomes
COSM1085620 COSM1085619	1208	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1210	H>Q	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs756432214	1211	K>Q		No	ExAC TOPMed gnomAD
rs1259663439	1213	M>K		No	TOPMed gnomAD
rs1259663439	1213	M>T		No	TOPMed gnomAD
rs1184588079	1214	A>V		No	gnomAD
COSM246676 rs370836606 COSM246675	1215	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs370836606	1215	R>L		No	ESP ExAC TOPMed gnomAD
rs755334406	1217	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs754137128	1219	M>K		No	ExAC TOPMed gnomAD
rs1259471209	1220	E>G		No	gnomAD
rs374317794	1221	Y>*		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM599269 COSM6108596 COSM6108597 COSM599268 rs1796649489	1222	S>Y	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic TOPMed
rs760193383	1223	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs761858335	1225	M>L		No	ExAC gnomAD
COSM3878149 COSM3878150	1227	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1386833946	1228	I>L		No	gnomAD
rs1041132291	1229	A>D		No	TOPMed gnomAD
rs1041132291	1229	A>V		No	TOPMed gnomAD
rs771687932	1230	P>A		No	TOPMed gnomAD
rs201499248	1230	P>L		No	ESP ExAC TOPMed gnomAD
rs201499248	1230	P>Q		No	ESP ExAC TOPMed gnomAD
TCGA novel	1230	P>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM3633379 COSM3633378 rs771687932	1230	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs561785917	1231	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1389046822	1232	S>N		No	gnomAD
rs771217249	1233	P>A		No	ExAC gnomAD
rs376544741	1233	P>L		No	ESP ExAC TOPMed gnomAD
COSM744521 COSM744522	1233	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3878147 COSM3878148	1234	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772034422	1235	S>T		No	ExAC gnomAD
rs1318940839	1236	L>P		No	TOPMed gnomAD
COSM5115458 rs755417761 COSM204050	1238	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs780352420	1239	I>M		No	ExAC TOPMed gnomAD
rs754220671	1239	I>T		No	ExAC gnomAD
rs755826813	1240	V>I		No	ExAC TOPMed gnomAD
rs751045622	1243	A>E		No	ExAC gnomAD
rs761223020	1243	A>S		No	ExAC TOPMed gnomAD
COSM2770448 COSM2770447 rs761223020	1243	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs751045622	1243	A>V		No	ExAC gnomAD
rs762944710	1245	A>V		No	ExAC gnomAD
rs1584804315	1247	G>A		No	Ensembl
COSM2770445 rs773306424 COSM2770446	1247	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs772273752	1248	L>H		No	ExAC gnomAD
rs772273752	1248	L>P		No	ExAC gnomAD
rs772273752	1248	L>R		No	ExAC gnomAD
COSM1085617 COSM1085618	1249	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1005851874	1249	L>I		No	TOPMed gnomAD
rs774362014	1250	I>L		No	ExAC gnomAD
rs1182362410	1251	I>M		No	TOPMed gnomAD
rs1392579753	1251	I>S		No	TOPMed gnomAD
rs1450565040	1251	I>V		No	gnomAD
rs374028222	1254	V>M		No	ESP ExAC TOPMed gnomAD
rs1796644147	1255	A>T		No	TOPMed
TCGA novel	1257	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1342332680	1257	L>I		No	gnomAD
COSM744526 COSM744525	1259	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1339626384	1262	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs763668879	1262	R>H		No	1000Genomes ExAC TOPMed gnomAD
rs763668879	1262	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs1796643218	1265	R>C		No	TOPMed
rs758459805 COSM267203 COSM267204	1265	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765150995	1266	E>A		No	ExAC gnomAD
rs1307432722 COSM2770439 COSM2770440	1266	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1307432722	1266	E>Q		No	TOPMed gnomAD
rs776432034	1268	D>H		No	ExAC TOPMed gnomAD
rs776432034	1268	D>Y		No	ExAC TOPMed gnomAD
rs1796642390	1269	L>F		No	TOPMed
rs1444586597	1270	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM3922719 COSM3922718	1270	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1326487050	1273	R>Q		No	TOPMed gnomAD
rs901328356	1273	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs764531254	1274	L>V		No	TOPMed gnomAD
TCGA novel	1275	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1283123438	1275	Q>R		No	TOPMed
rs1232065188	1276	M>I		No	TOPMed gnomAD
rs749852054	1276	M>L		No	ExAC TOPMed gnomAD
rs1276212214	1277	Q>H		No	gnomAD
rs1584804092	1277	Q>P		No	Ensembl
rs1220092987	1278	M>I		No	gnomAD
rs775856842	1280	N>H		No	ExAC gnomAD
rs987850603	1282	E>Q		No	TOPMed gnomAD
rs1562902357	1283	S>A		No	Ensembl
rs1562902357	1283	S>T		No	Ensembl
rs1041202581	1284	R>C		No	Ensembl
rs1284501625	1284	R>H		No	gnomAD
rs1333821774	1286	A>V		No	gnomAD
rs373164885	1288	E>*		No	ESP ExAC TOPMed gnomAD
rs373164885	1288	E>Q		No	ESP ExAC TOPMed gnomAD
rs1410724153	1291	E>A		No	gnomAD
rs754910328	1294	A>V		No	ExAC gnomAD
COSM1448099 rs1315826602 COSM1448100	1295	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed
COSM5871858 COSM5871857	1299	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370750310	1301	H>Q		No	ESP ExAC TOPMed gnomAD
COSM4794668 COSM4794669	1301	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1306	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1307	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs575376184	1308	D>G		No	1000Genomes ExAC TOPMed gnomAD
rs1365101809	1308	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs763111156	1310	A>G		No	ExAC gnomAD
rs763111156	1310	A>V		No	ExAC gnomAD
rs765339104	1311	G>R		No	ExAC TOPMed gnomAD
COSM3878140 rs1000297352 COSM3878139	1313	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs976571835	1314	F>L		No	TOPMed gnomAD
rs777192080	1316	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1259938621	1318	R>G		No	TOPMed
rs2116697729	1318	R>S		No	1000Genomes
COSM6176119 COSM6176118	1318	R>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs568582990	1319	T>I		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1319	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1320	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs967523591	1320	Y>H		No	TOPMed
rs1796405363	1322	M>I		No	TOPMed
rs372795017	1322	M>T		No	ESP ExAC TOPMed gnomAD
rs201863696	1322	M>V		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1323	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs367624546	1323	R>Q		No	ESP TOPMed gnomAD
COSM599272 COSM212414 rs747801776	1323	R>W	lung kidney Variant assessed as Somatic; MODERATE impact. large_intestine breast [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1325	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1673548 rs768195166 COSM1673547	1326	F>L	large_intestine [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs768195166	1326	F>V		No	ExAC TOPMed gnomAD
COSM1085616 COSM1085615	1328	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1796404619	1329	I>T		No	TOPMed
rs755988099	1331	D>A		No	ExAC gnomAD
COSM6108600 COSM6108601	1331	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1418893026	1332	H>Y		No	TOPMed
TCGA novel	1333	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1333	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1333	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1335	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs745683440	1336	R>P		No	ExAC TOPMed gnomAD
COSM3831896 COSM3831897 rs745683440	1336	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1009776638	1336	R>W		No	TOPMed gnomAD
rs1796403903	1337	D>G		No	Ensembl
COSM5537335 COSM5537336	1337	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780924420	1338	L>F		No	ExAC TOPMed gnomAD
rs1796403649	1338	L>H		No	Ensembl
rs1796403649	1338	L>P		No	Ensembl
rs374466534	1341	P>L		No	ESP ExAC TOPMed gnomAD
rs1796190842	1341	P>S		No	TOPMed
COSM3878137 COSM3878138	1342	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5954554 COSM5954553	1342	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1238190760	1342	G>V		No	TOPMed gnomAD
rs766539420	1343	Y>H		No	ExAC TOPMed gnomAD
rs201634564	1344	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs375720148	1344	R>W		No	ESP ExAC TOPMed gnomAD
rs1328050537	1346	E>D		No	TOPMed gnomAD
rs762239805	1346	E>G		No	ExAC gnomAD
rs1175189224	1346	E>K		No	Ensembl
rs369917118	1347	R>C		No	ESP ExAC gnomAD
rs200800715	1347	R>H		No	ESP ExAC TOPMed gnomAD
rs369917118	1347	R>S		No	ESP ExAC gnomAD
rs762472086	1348	V>A		No	ExAC gnomAD
rs762472086	1348	V>G		No	ExAC gnomAD
COSM744527 COSM744528	1349	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1796189339	1349	E>K		No	TOPMed
rs746333264	1351	G>S		No	Ensembl
rs1796188890	1353	K>N		No	Ensembl
rs1796188982	1353	K>Q		No	Ensembl
rs200724235	1355	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1355	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs376632126	1356	A>D		No	ESP ExAC TOPMed gnomAD
rs140960582	1356	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140960582	1356	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376632126	1356	A>V		No	ESP ExAC TOPMed gnomAD
rs776556407	1357	Q>E		No	ExAC gnomAD
COSM6108603 COSM6108602	1357	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1161739709	1357	Q>R		No	gnomAD
rs770717727	1359	I>L		No	ExAC
rs1164780869	1359	I>T		No	TOPMed
rs1465803717	1360	N>S		No	Ensembl
rs746845630	1361	N>S		No	ExAC TOPMed gnomAD
rs777393702	1363	V>L		No	ExAC TOPMed gnomAD
rs1026107308	1364	F>Y		No	Ensembl
COSM1755078 COSM1755079	1365	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM744530 COSM744529	1366	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs768967435	1367	S>C		No	ExAC TOPMed gnomAD
rs1489770423	1368	F>S		No	gnomAD
rs1246497878	1370	R>C		No	TOPMed gnomAD
rs749495222	1370	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs749495222	1370	R>L		No	ExAC TOPMed gnomAD
rs371546738	1371	T>M		No	ESP ExAC TOPMed gnomAD
rs2116666052	1371	T>S		No	Ensembl
rs1240790693	1375	Q>E		No	gnomAD
rs1015797859	1376	R>C		No	TOPMed gnomAD
COSM2770404 COSM2770403 rs750458788	1376	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs750458788	1376	R>L		No	ExAC TOPMed gnomAD
rs1796186117	1380	M>T		No	TOPMed
COSM3878136 rs1174677476 COSM3878135	1381	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM3778118 rs368621356 COSM3778117	1381	R>H	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs118107843	1382	D>H		No	1000Genomes ExAC TOPMed gnomAD
rs118107843 COSM5871853 COSM5871854	1382	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs888077375	1383	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs972742558	1383	R>H		No	TOPMed gnomAD
rs1318528104	1385	N>S		No	gnomAD
rs1318528104	1385	N>T		No	gnomAD
rs752343164	1386	V>M		No	ExAC TOPMed gnomAD
rs1562894084	1388	S>L		No	Ensembl
COSM744531 rs1562894072 COSM744532	1389	L>F	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs372601872	1391	M>T		No	ESP ExAC gnomAD
rs764805578	1391	M>V		No	ExAC TOPMed gnomAD
rs1257603143 COSM1237182 COSM1237181	1392	T>A	parathyroid [Cosmic]	No	cosmic curated Ensembl
COSM1448098 rs757554246 COSM1448097	1393	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM744533 COSM744534	1397	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs73155258	1401	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1250343568	1402	T>A		No	gnomAD
rs1796183817	1403	D>G		No	TOPMed
rs1482088611	1407	Q>E		No	gnomAD
rs763843541	1410	A>D		No	Ensembl
rs1295274227	1411	D>G		No	gnomAD
rs147374247	1411	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs770080986	1413	I>T		No	ExAC TOPMed gnomAD
rs1796183035	1413	I>V		No	TOPMed gnomAD
TCGA novel rs758085427	1414	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD NCI-TCGA
rs1796182684	1414	D>G		No	Ensembl
rs1297501243	1414	D>N		No	gnomAD
TCGA novel	1415	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM744536 COSM744535	1415	K>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1796182407	1417	L>V		No	Ensembl
rs1394440345	1418	E>K		No	TOPMed gnomAD
rs1273381816	1419	S>G		No	TOPMed
rs781089345	1419	S>N		No	ExAC gnomAD
rs1796181904	1420	K>N		No	Ensembl
rs1584787313	1422	H>P		No	Ensembl
COSM5092465	1422	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1208029156	1431	E>G		No	gnomAD
rs747044208	1432	S>A		No	ExAC gnomAD
COSM1085613 COSM1085614	1432	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1378911264	1434	A>S		No	gnomAD
rs1378911264 COSM1085612 COSM1085611	1434	A>T	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
COSM3922717 COSM3922716	1435	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1235324741	1440	N>S		No	gnomAD
rs1796085758	1442	F>L		No	TOPMed
rs1796085692	1443	T>A		No	TOPMed
rs1796085608	1445	L>F		No	gnomAD
rs1403112815	1447	Y>C		No	TOPMed gnomAD
rs2116651417	1447	Y>H		No	Ensembl
rs1410511197	1448	K>R		No	gnomAD
rs886512467	1450	L>F		No	TOPMed gnomAD
rs886512467	1450	L>V		No	TOPMed gnomAD
rs2116647711	1452	E>D		No	Ensembl
COSM3633371 COSM3633370	1452	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1796034407	1452	E>V		No	Ensembl
rs1796034329	1453	C>F		No	TOPMed gnomAD
rs1209554354	1454	A>S		No	gnomAD
rs1448964311	1455	G>W		No	gnomAD
TCGA novel	1456	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1199933424	1456	E>G		No	gnomAD
rs1199933424	1456	E>V		No	gnomAD
rs1796033953	1457	P>R		No	gnomAD
rs1345881905	1458	L>H		No	gnomAD
rs1796033302 TCGA novel	1462	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
COSM3633367 COSM3633366	1470	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs764057793	1471	K>N		No	ExAC gnomAD
rs1796032979	1472	G>V		No	TOPMed
COSM6176121 COSM6176120	1473	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1331856531	1474	I>T		No	gnomAD
rs766542462	1476	A>S		No	ExAC TOPMed gnomAD
COSM267201 COSM267202 rs766542462	1476	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs912903846	1476	A>V		No	TOPMed
rs1204770963	1477	I>V		No	TOPMed gnomAD
rs1389251234	1478	T>M		No	TOPMed gnomAD
rs1562891487	1479	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
COSM1488228 COSM1488229	1479	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM744537 rs774839624 COSM744538	1480	E>K	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs749633952	1481	A>T		No	ExAC gnomAD
rs1282587971	1481	A>V		No	gnomAD
rs1342077914	1482	R>H		No	gnomAD
rs1203578232	1482	R>S		No	gnomAD
rs1282043567	1487	E>K		No	TOPMed gnomAD
rs1796029023	1488	D>V		No	TOPMed
rs780906661	1492	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM452346 rs1796028874 COSM452347	1492	R>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs756822750	1493	Q>*		No	ExAC gnomAD
rs1454584308	1493	Q>H		No	gnomAD
COSM1197732 COSM1197733	1493	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1495	I>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1314184431	1495	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs905061285	1496	D>E		No	TOPMed gnomAD
rs777876344	1499	T>N		No	ExAC gnomAD
rs764209728	1501	V>I		No	ExAC TOPMed gnomAD
rs763427156	1503	S>N		No	ExAC gnomAD
rs776059024	1504	C>Y		No	ExAC gnomAD
rs1307120140	1505	V>A		No	gnomAD
rs765596855	1506	S>N		No	ExAC gnomAD
rs1321284122	1507	P>T		No	TOPMed gnomAD
rs61156312	1508	D>E		No	Ensembl
rs1365421316	1508	D>G		No	TOPMed gnomAD
rs770749363	1509	N>K		No	ExAC TOPMed gnomAD
rs760002443	1509	N>S		No	ExAC gnomAD
COSM263011 COSM263012	1510	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1279232718	1511	N>D		No	TOPMed gnomAD
rs1396462131	1511	N>S		No	gnomAD
rs1456942715	1512	S>I		No	gnomAD
rs1456942715	1512	S>N		No	gnomAD
COSM2770368 rs1795888349 COSM2770367	1513	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic TOPMed gnomAD
rs372771390 COSM3633362 COSM3633363	1514	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs370684694	1515	V>I		No	ESP ExAC TOPMed gnomAD
rs1486288824	1520	L>F		No	TOPMed gnomAD
rs1795887710	1521	N>S		No	gnomAD
rs2116628208	1522	C>S		No	Ensembl
rs1795887637	1523	D>E		No	TOPMed
rs970228143	1524	T>A		No	gnomAD
rs1190766463	1524	T>S		No	Ensembl
rs377610333	1525	I>V		No	ESP ExAC gnomAD
rs1795887178	1527	Q>*		No	Ensembl
rs1196261670	1530	E>D		No	Ensembl
COSM1448095 COSM1448096	1530	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633359 COSM3633358	1530	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1085609 COSM1085610	1533	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs866728287	1534	D>N		No	Ensembl
rs1260746525	1536	I>V		No	gnomAD
rs1364597477	1539	N>H		No	gnomAD
rs1795886514	1539	N>S		No	TOPMed
rs1795886278	1542	C>F		No	TOPMed
COSM3633354 COSM3633355	1543	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1234957922	1544	H>P		No	gnomAD
rs1302550342	1544	H>Y		No	TOPMed gnomAD
COSM1085607 rs757522706 COSM1085608	1545	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs777611144 COSM3949949 COSM3949950	1545	R>W	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs2116627971	1548	A>D		No	Ensembl
COSM1085603 COSM1085604	1549	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758264760	1550	D>H		No	ExAC TOPMed gnomAD
rs758264760	1550	D>Y		No	ExAC TOPMed gnomAD
rs1290920974 COSM314278 COSM314279	1551	M>I	lung [Cosmic]	No	cosmic curated gnomAD
rs1362902355	1551	M>V		No	gnomAD
rs1795885482	1552	D>E		No	TOPMed
rs764146693	1552	D>H		No	ExAC TOPMed gnomAD
COSM3633350 COSM3633351	1552	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1795504030	1555	W>*		No	Ensembl
rs752862207	1556	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs765386768	1556	R>Q		No	ExAC TOPMed gnomAD
rs1795503812	1557	Q>H		No	Ensembl
rs1188027152	1558	G>R		No	gnomAD
rs150284097	1559	S>N		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1195206137	1561	A>S		No	gnomAD
COSM1548217 COSM1548216 rs1195206137	1561	A>T	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated gnomAD
rs180750520	1564	I>N		No	1000Genomes ExAC TOPMed gnomAD
rs761137846	1566	Q>E		No	ExAC gnomAD
rs1795503160	1567	D>Y		No	TOPMed gnomAD
COSM86768 COSM4947270	1568	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1569	D>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1795503077	1570	I>V		No	TOPMed
rs1483740871	1571	T>A		No	Ensembl
rs1202522536	1571	T>I		No	gnomAD
TCGA novel	1572	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374139141	1574	I>T		No	ESP ExAC TOPMed gnomAD
rs1294200612	1574	I>V		No	gnomAD
rs768138901	1576	N>H		No	ExAC gnomAD
rs762943057	1577	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs775410182	1577	D>V		No	ExAC gnomAD
rs1292160615	1578	W>G		No	gnomAD
TCGA novel	1578	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2116577462	1578	W>S		No	Ensembl
rs1416708653 COSM204049 COSM5113389	1580	R>*	Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs375808893	1580	R>L		No	ESP TOPMed gnomAD
rs375808893	1580	R>Q		No	ESP TOPMed gnomAD
rs1475888283	1582	N>S		No	gnomAD
rs1795501819	1583	T>I		No	Ensembl
rs1466277948	1584	L>V		No	TOPMed gnomAD
TCGA novel	1585	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1180943954	1585	A>V		No	gnomAD
COSM6176125 COSM6176124	1586	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1780818671	1586	H>R		No	TOPMed gnomAD
rs1584763591	1589	V>G		No	Ensembl
rs267601288	1589	V>M		No	TOPMed gnomAD
rs911331057	1590	P>L		No	TOPMed
rs911331057	1590	P>R		No	TOPMed
rs774931789	1591	D>E		No	ExAC TOPMed gnomAD
COSM1312686 COSM1312687	1592	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1795486071	1593	S>A		No	Ensembl
rs867644651	1593	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs529500573 COSM3725383 COSM3725382	1594	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1306085896	1596	A>S		No	gnomAD
rs746749280	1597	L>S		No	ExAC gnomAD
rs200733456	1598	V>A		No	TOPMed
rs779287836	1598	V>L		No	ExAC gnomAD
rs1386564723	1601	Q>E		No	gnomAD
rs1434061934	1602	V>E		No	TOPMed gnomAD
rs1434061934	1602	V>G		No	TOPMed gnomAD
rs2116575029	1602	V>L		No	Ensembl
rs1584763526	1603	T>P		No	Ensembl
rs199524845	1606	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs200233123	1607	A>P		No	ESP ExAC TOPMed gnomAD
rs200233123	1607	A>T		No	ESP ExAC TOPMed gnomAD
rs1218309320	1608	V>A		No	TOPMed
rs1194223603	1608	V>M		No	gnomAD
rs1463463113	1609	N>K		No	gnomAD
COSM4392714 COSM4392715	1611	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781670649	1612	T>I		No	ExAC gnomAD
rs201134213	1613	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201134213	1613	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs758015320	1615	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs752253206	1616	T>A		No	ExAC TOPMed gnomAD
rs1339186802	1616	T>I		No	TOPMed gnomAD
rs1339186802	1616	T>N		No	TOPMed gnomAD
rs752253206	1616	T>S		No	ExAC TOPMed gnomAD
TCGA novel	1619	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763670910	1621	Y>H		No	ExAC TOPMed gnomAD
rs1467447484	1622	E>G		No	gnomAD
rs1467447484	1622	E>V		No	gnomAD
COSM1085599 COSM1085600	1623	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767411064 COSM3949946 COSM3949945	1624	M>V	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1294599633	1625	I>S		No	TOPMed gnomAD
rs763337762	1625	I>V		No	ExAC gnomAD
rs201664959	1626	R>Q		No	ExAC TOPMed gnomAD
rs371769384	1626	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM744542 COSM744541	1627	Y>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs745957051	1627	Y>H		No	ExAC gnomAD
rs1392087249	1628	T>A		No	gnomAD
rs367942627	1628	T>M		No	ESP ExAC TOPMed gnomAD
rs1396701522	1629	G>D		No	gnomAD
rs1795443938	1631	P>T		No	gnomAD
rs758764974 COSM1488227 COSM1488226	1632	D>N	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs202113167	1633	S>G		No	1000Genomes ExAC TOPMed gnomAD
COSM1085598 COSM1085597	1633	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633341 COSM3633340	1633	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3633338 COSM3633339	1634	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1452906880	1634	L>R		No	gnomAD
rs778448954	1635	R>C		No	ExAC TOPMed gnomAD
rs778448954	1635	R>G		No	ExAC TOPMed gnomAD
COSM268009 rs754615235 COSM268010	1635	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754615235	1635	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1306063898	1636	S>A		No	gnomAD
rs1562882131	1636	S>L		No	Ensembl
rs1468650209	1637	R>G		No	gnomAD
rs753325197 COSM3922715 COSM3922714	1637	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs779597981	1639	P>S		No	ExAC gnomAD
rs924898636	1640	M>V		No	Ensembl
rs1332106089	1641	I>S		No	TOPMed
rs1795442498	1642	T>A		No	Ensembl
rs1584761839	1643	P>H		No	Ensembl
rs750385003	1643	P>S		No	ExAC TOPMed gnomAD
rs750385003	1643	P>T		No	ExAC TOPMed gnomAD
rs767498839	1644	D>E		No	ExAC gnomAD
rs1338656668	1647	S>N		No	Ensembl
rs1441848340	1647	S>R		No	gnomAD
COSM3878131 COSM3878132	1648	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1287374442	1648	G>E		No	TOPMed gnomAD
rs1373453448	1648	G>R		No	gnomAD
COSM6108607 COSM6108606	1648	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375888077	1651	M>I		No	ESP ExAC gnomAD
rs1328982685	1651	M>T		No	gnomAD
TCGA novel	1654	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM284102 COSM284101	1657	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1795441162	1658	H>R		No	TOPMed
TCGA novel	1659	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1795440991	1659	E>K		No	Ensembl
COSM5187898	1661	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3878130 COSM3878129	1662	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1662	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760680174	1664	K>N		No	ExAC TOPMed gnomAD
rs377541765	1664	K>R		No	ESP ExAC TOPMed gnomAD
rs773720383	1665	E>D		No	ExAC gnomAD
COSM4947170 COSM86767	1666	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs550791568	1667	D>E		No	TOPMed gnomAD
rs748489835	1668	R>L		No	ExAC TOPMed gnomAD
rs748489835	1668	R>Q		No	ExAC TOPMed gnomAD
COSM263009 rs1218616402 COSM263010	1668	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1584761705	1669	G>E		No	Ensembl
rs1795439908	1669	G>R		No	TOPMed gnomAD
rs1795439583	1673	V>M		No	Ensembl
rs1584761687	1677	Y>S		No	Ensembl
rs1028136001	1680	R>*		No	gnomAD
COSM3698172 COSM3698173	1682	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1683	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1795438758	1684	T>S		No	Ensembl
rs993551266	1685	K>R		No	TOPMed gnomAD
COSM6108609 COSM6108608	1688	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1240703639	1690	K>E		No	TOPMed gnomAD
rs1795386988	1691	F>L		No	TOPMed
COSM3878127 COSM3878128	1693	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1292074035	1701	S>I		No	TOPMed gnomAD
rs1292074035	1701	S>T		No	TOPMed gnomAD
rs752384986	1702	T>K		No	ExAC TOPMed gnomAD
rs752384986	1702	T>M		No	ExAC TOPMed gnomAD
rs964891231	1703	A>T		No	Ensembl
rs1185102604	1703	A>V		No	TOPMed gnomAD
rs1260214831	1705	R>C		No	TOPMed gnomAD
rs200400813	1705	R>H		No	ExAC TOPMed gnomAD
TCGA novel	1706	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1259506689	1707	S>C		No	Ensembl
rs1170997037	1710	P>A		No	TOPMed
rs767567930	1710	P>L		No	ExAC gnomAD
rs762297961	1711	L>V		No	ExAC TOPMed gnomAD
rs1359306250	1712	A>T		No	TOPMed
rs1449813940	1712	A>V		No	TOPMed gnomAD
rs764453418	1713	I>V		No	ExAC gnomAD
rs867480613	1715	Y>C		No	Ensembl
rs775957829	1716	M>I		No	ExAC TOPMed gnomAD
rs1296138359	1716	M>T		No	gnomAD
rs1795384358	1716	M>V		No	gnomAD
rs1795384119	1717	F>I		No	Ensembl
COSM3878125 COSM3878126	1718	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1584759955	1719	F>I		No	TOPMed
rs769612847	1719	F>L		No	ExAC gnomAD
rs1795383785	1720	L>P		No	Ensembl
COSM3633327 COSM3633326	1721	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868823844	1722	E>D		No	Ensembl
rs770479225	1726	K>Q		No	ExAC gnomAD
rs1795383376	1727	H>R		No	Ensembl
rs746445617	1728	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1795383124	1730	H>Y		No	TOPMed
rs1035375584	1731	D>A		No	Ensembl
rs777787885	1732	P>L		No	ExAC TOPMed gnomAD
COSM6176131 COSM6176130	1732	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs180898561	1733	H>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1345661289	1734	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs573158068	1735	R>C		No	ExAC TOPMed gnomAD
rs750643189 COSM2770320 COSM2770319	1735	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs750643189	1735	R>L		No	ExAC TOPMed gnomAD
TCGA novel	1738	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1795381849	1740	S>N		No	TOPMed
rs781501987	1742	C>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1795246116	1743	L>V		No	TOPMed
COSM4900974 COSM4900973	1746	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs563607771	1752	I>M		No	1000Genomes ExAC gnomAD
rs1795245703	1752	I>V		No	TOPMed
rs759002592 COSM204048	1755	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1001000070	1756	Q>P		No	TOPMed gnomAD
rs1795244830	1762	H>D		No	Ensembl
rs765780731	1762	H>L		No	ExAC TOPMed gnomAD
rs765780731	1762	H>R		No	ExAC TOPMed gnomAD
rs1429938874	1763	K>E		No	gnomAD
COSM1085595 COSM1085596	1764	N>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4936266 rs1326870251 COSM4936267	1765	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
COSM117708	1767	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1768	D>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs759998847	1768	D>A		No	ExAC gnomAD
rs2116541514	1768	D>H		No	Ensembl
TCGA novel	1768	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs760219916	1769	A>P		No	ExAC gnomAD
rs760219916 COSM1085594 COSM1085593	1769	A>T	endometrium [Cosmic]	No	cosmic curated ExAC gnomAD
COSM744543 COSM744544	1770	C>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1795243937	1773	V>M		No	TOPMed
rs1201763164	1775	A>S		No	gnomAD
COSM86766 rs1269299858	1777	T>I	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated TOPMed gnomAD
rs1269299858	1777	T>N		No	TOPMed gnomAD
COSM3878122 COSM3878121	1778	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1779	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs761250456	1781	S>A		No	ExAC gnomAD
COSM3778116 COSM3778115	1781	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1335922474	1782	C>S		No	gnomAD
rs372160247	1784	T>K		No	ESP ExAC TOPMed gnomAD
COSM3878120 COSM3878119 rs372160247	1784	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs1171713711	1786	E>D		No	gnomAD
rs1795242473	1787	H>N		No	Ensembl
TCGA novel	1787	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs779684650	1788	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1795242338	1788	R>W		No	gnomAD
rs187787425	1790	G>S		No	1000Genomes TOPMed gnomAD
COSM3878118 COSM3878117	1793	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777976990	1796	N>K		No	ExAC gnomAD
COSM3633322 COSM3633323	1803	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1270739553	1805	P>S		No	gnomAD
COSM1085591 COSM1085592	1806	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs766636683	1807	Y>C		No	ExAC gnomAD
rs766636683	1807	Y>F		No	ExAC gnomAD
COSM5172340	1808	K>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1334969627	1810	W>*		No	gnomAD
rs760439361	1810	W>L		No	ExAC TOPMed gnomAD
rs990410148	1810	W>R		No	Ensembl
rs750045262	1811	V>M		No	ExAC gnomAD
rs199674695	1812	E>Q		No	1000Genomes ExAC gnomAD
rs1213489375	1816	S>*		No	gnomAD
rs774634873	1817	D>G		No	ExAC gnomAD
rs1286738724	1818	I>T		No	gnomAD
rs1396556041	1819	G>R		No	TOPMed gnomAD
COSM3431249 COSM3431250	1820	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749329216 TCGA novel	1821	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD NCI-TCGA
rs776186303	1822	P>L		No	TOPMed gnomAD
rs780451200	1823	A>S		No	ExAC TOPMed gnomAD
rs780451200	1823	A>T		No	ExAC TOPMed gnomAD
rs1369739483	1824	I>V		No	gnomAD
rs756962656	1831	A>S		No	ExAC gnomAD
rs756962656	1831	A>T		No	ExAC gnomAD
rs1795017589	1832	Y>S		No	TOPMed
rs548046504	1833	L>V		No	TOPMed gnomAD
rs1795017403	1836	Q>K		No	gnomAD
COSM5184333	1837	S>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763670879	1838	R>Q		No	ExAC TOPMed gnomAD
rs375135413	1838	R>W		No	ESP ExAC TOPMed gnomAD
rs757861126	1839	M>I		No	ExAC gnomAD
rs1369946829	1839	M>V		No	TOPMed gnomAD
rs752209974	1840	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
TCGA novel	1840	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1477233280	1841	M>V		No	gnomAD
rs1211458134	1844	F>*		No	Ensembl
COSM5026831 COSM5026832	1844	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs765125797	1844	F>Y		No	ExAC gnomAD
rs993506985	1846	T>A		No	gnomAD
rs1441910270	1847	M>I		No	gnomAD
rs1346268056	1847	M>T		No	TOPMed gnomAD
rs753740431	1847	M>V		No	ExAC TOPMed gnomAD
rs766268551	1848	S>G		No	ExAC TOPMed gnomAD
rs1396853889	1848	S>N		No	gnomAD
rs1795016106	1849	A>V		No	TOPMed
rs1314157624	1851	S>L		No	gnomAD
TCGA novel	1851	S>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1852	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1854	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs924508818	1854	F>Y		No	TOPMed
rs200763664	1855	S>F		No	1000Genomes ExAC TOPMed gnomAD
rs1280604020	1856	Y>C		No	TOPMed gnomAD
rs1280604020	1856	Y>F		No	TOPMed gnomAD
rs1341230202	1856	Y>H		No	gnomAD
rs1795015145	1857	V>M		No	TOPMed
rs1401868525 COSM3633318 COSM3633319	1858	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1795014881 COSM4153840 COSM4153839	1860	Y>H	ovary [Cosmic]	No	cosmic curated Ensembl
rs746373472	1861	S>N		No	ExAC TOPMed gnomAD
rs202117552	1861	S>R		No	1000Genomes ExAC TOPMed gnomAD
rs747317773	1862	E>G		No	ExAC gnomAD
COSM4715928 rs771291757 COSM4715929	1862	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1563048980	1863	E>D		No	Ensembl
rs758035443	1863	E>K		No	ExAC TOPMed gnomAD
rs758035443	1863	E>Q		No	ExAC TOPMed gnomAD
rs375841035	1865	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed
rs1391596827	1865	L>P		No	TOPMed
rs2116488757	1866	G>V		No	Ensembl
rs753346890	1867	P>S		No	ExAC TOPMed gnomAD
COSM1448093 COSM1448094	1868	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1178197564	1868	L>R		No	gnomAD
rs550735539	1870	H>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM328218 COSM328219 rs150228337	1870	H>Y	pancreas [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs2671103	1871	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201799383	1871	D>N		No	ESP ExAC TOPMed gnomAD
rs772611297 COSM1448091 COSM1448092	1872	D>N	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs538648206	1873	Q>P		No	ExAC TOPMed gnomAD
rs1303859098	1874	C>R		No	gnomAD
rs1794897253	1874	C>Y		No	Ensembl
COSM3431247 COSM3431248	1875	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1309008455	1875	G>R		No	TOPMed gnomAD
rs1235314970	1876	K>E		No	gnomAD
rs1794897030	1876	K>R		No	TOPMed
rs1373420984	1877	Q>E		No	TOPMed gnomAD
rs1302252074	1877	Q>L		No	TOPMed
rs1296546484	1879	L>R		No	TOPMed gnomAD
rs1794896735	1879	L>V		No	gnomAD
rs1448062220	1880	A>P		No	TOPMed gnomAD
rs1448062220	1880	A>T		No	TOPMed gnomAD
rs772178334	1880	A>V		No	ExAC gnomAD
rs1260625883	1884	E>Q		No	TOPMed
rs965717088	1885	Q>H		No	gnomAD
COSM6108615 COSM6108614	1885	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1794896170	1886	V>L		No	Ensembl
rs1163702006	1888	T>I		No	TOPMed gnomAD
rs1163702006	1888	T>N		No	TOPMed gnomAD
COSM3878114 COSM3878113	1888	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1378466142	1889	L>F		No	gnomAD
TCGA novel	1889	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1794895737	1889	L>R		No	Ensembl
rs1378466142	1889	L>V		No	gnomAD
COSM599297 rs761156637 COSM599298	1890	M>I	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs1019532844	1890	M>T		No	TOPMed
rs1794895670	1890	M>V		No	Ensembl
rs773515080	1891	S>N		No	ExAC gnomAD
rs1249290085	1891	S>R		No	TOPMed
rs1375238852	1892	L>*		No	gnomAD
rs1794894857	1892	L>V		No	gnomAD
COSM265735 COSM265736	1893	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2116488182	1895	S>C		No	Ensembl
rs748399835	1895	S>S		No	ExAC TOPMed gnomAD

No associated diseases with Q9HCM2

6 regional properties for Q9HCM2

Type	Name	Position	InterPro Accession
domain	Peptidase S8/S53 domain	179 - 417	IPR000209
domain	Peptidase S8 propeptide/proteinase inhibitor I9	75 - 147	IPR010259
domain	Proteinase K-like catalytic domain	154 - 419	IPR034193
domain	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 3	600 - 680	IPR041051
domain	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 2	533 - 598	IPR041052
domain	Proprotein convertase subtilisin/kexin type 9, C-terminal domain 1	448 - 529	IPR041254

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cerebellar climbing fiber to Purkinje cell synapse	A synapse of a climbing fiber onto the dendrites of a Purkinje cell in cerebellum. The climbing fiber originates from the inferior olivary nucleus of the medulla oblongata.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
semaphorin receptor complex	A stable binary complex of a neurophilin and a plexin, together forming a functional semaphorin receptor.

1 GO annotations of molecular function

Name	Definition
semaphorin receptor activity	Combining with a semaphorin, and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

21 GO annotations of biological process

Name	Definition
anterior commissure morphogenesis	Generation of a long process of a CNS neuron, that carries efferent (outgoing) action potentials from the cell body in one half of the cerebral cortex towards target cells in the contralateral half. This axonal process is a member of those that make up the anterior commissure, a small midline fiber tract that lies at the anterior end of the corpus callosum.
branchiomotor neuron axon guidance	The process in which a branchiomotor neuron growth cone is directed to a specific target site. Branchiomotor neurons are located in the hindbrain and innervate branchial arch-derived muscles that control jaw movements, facial expression, the larynx, and the pharynx.
chemorepulsion of branchiomotor axon	The process in which a branchiomotor neuron growth cone is directed to a specific target site in response to a repulsive chemical cue. Branchiomotor neurons are located in the hindbrain and innervate branchial arch-derived muscles that control jaw movements, facial expression, the larynx, and the pharynx.
embryonic heart tube development	The process whose specific outcome is the progression of the embryonic heart tube over time, from its formation to the mature structure. The heart tube forms as the heart rudiment from the heart field.
facial nerve structural organization	The process that contributes to the act of creating the structural organization of the facial nerve. This process pertains to the physical shaping of a rudimentary structure. This sensory and motor nerve supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue. The principal branches are the superficial opthalmic, buccal, palatine and hyomandibular. The main trunk synapses within pterygopalatine ganglion in the parotid gland and this ganglion then gives of nerve branches which supply the lacrimal gland and the mucous secreting glands of the nasal and oral cavities.
glossopharyngeal nerve morphogenesis	The process in which the anatomical structure of the glossopharyngeal nerve is generated and organized. Various sensory and motor branches of the glossopharyngeal nerve supply nerve connections to the pharynx and back of the tongue. The branchial motor component contains motor fibers that innervate muscles that elevate the pharynx and larynx, and the tympanic branch supplies parasympathetic fibers to the otic ganglion.
maintenance of synapse structure	A process that preserves the structural organistation and orientation of a synaptic cellular component such as the synaptic cytoskeleton and molecular scaffolds.
motor neuron axon guidance	The process in which the migration of an axon growth cone of a motor neuron is directed to a specific target site in response to a combination of attractive and repulsive cues.
negative regulation of cell adhesion	Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion.
positive regulation of axonogenesis	Any process that activates or increases the frequency, rate or extent of axonogenesis.
postganglionic parasympathetic fiber development	The process whose specific outcome is the progression of the postganglionic portion of the parasympathetic fiber over time, from its formation to the mature structure. The parasympathetic fiber is one of the two divisions of the vertebrate autonomic nervous system. Parasympathetic nerves emerge cranially as pre ganglionic fibers from oculomotor, facial, glossopharyngeal and vagus and from the sacral region of the spinal cord. Most neurons are cholinergic and responses are mediated by muscarinic receptors. The parasympathetic system innervates, for example
regulation of axon extension involved in axon guidance	Any process that modulates the frequency, rate or extent of axon extension involved in axon guidance.
regulation of cell migration	Any process that modulates the frequency, rate or extent of cell migration.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of negative chemotaxis	Any process that modulates the frequency, rate or extent of the directed movement of a motile cell or organism towards a lower concentration in a concentration gradient of a specific chemical.
semaphorin-plexin signaling pathway	The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand.
semaphorin-plexin signaling pathway involved in axon guidance	Any semaphorin-plexin signaling pathway that is involved in axon guidance.
sympathetic nervous system development	The process whose specific outcome is the progression of the sympathetic nervous system over time, from its formation to the mature structure. The sympathetic nervous system is one of the two divisions of the vertebrate autonomic nervous system (the other being the parasympathetic nervous system). The sympathetic preganglionic neurons have their cell bodies in the thoracic and lumbar regions of the spinal cord and connect to the paravertebral chain of sympathetic ganglia. Innervate heart and blood vessels, sweat glands, viscera and the adrenal medulla. Most sympathetic neurons, but not all, use noradrenaline as a post-ganglionic neurotransmitter.
sympathetic neuron axon guidance	The chemotaxis process that directs the migration of a sympathetic neuron axon growth cone to a specific target site in response to a combination of attractive and repulsive cues.
trigeminal nerve structural organization	The process that contributes to the act of creating the structural organization of the oculomotor nerve. This process pertains to the physical shaping of a rudimentary structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae.
vagus nerve morphogenesis	The process in which the anatomical structure of the vagus nerve is generated and organized. This nerve is primarily sensory but also has visceromotor components. It originates in the brain stem and controls many autonomic functions of the heart, lungs, stomach, pharynx, larynx, trachea, esophagus and other gastrointestinal tract components. It controls some motor functions such as speech. The sensory branches mediate sensation from the pharynx, larynx, thorax and abdomen; it also innervates taste buds in the epiglottis.

27 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
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
Q9ULL4	PLXNB3	Plexin-B3	Homo sapiens (Human)	SS
O75051	PLXNA2	Plexin-A2	Homo sapiens (Human)	SS
Q9UIW2	PLXNA1	Plexin-A1	Homo sapiens (Human)	EV SS
P51805	PLXNA3	Plexin-A3	Homo sapiens (Human)	SS
O15031	PLXNB2	Plexin-B2	Homo sapiens (Human)	SS
O43157	PLXNB1	Plexin-B1	Homo sapiens (Human)	EV SS
Q9QY40	Plxnb3	Plexin-B3	Mus musculus (Mouse)	SS
P70208	Plxna3	Plexin-A3	Mus musculus (Mouse)	EV SS
Q3UH93	Plxnd1	Plexin-D1	Mus musculus (Mouse)	SS
P70207	Plxna2	Plexin-A2	Mus musculus (Mouse)	SS
Q62190	Mst1r	Macrophage-stimulating protein receptor	Mus musculus (Mouse)	SS
B2RXS4	Plxnb2	Plexin-B2	Mus musculus (Mouse)	SS
Q8CJH3	Plxnb1	Plexin-B1	Mus musculus (Mouse)	SS
Q9QZC2	Plxnc1	Plexin-C1	Mus musculus (Mouse)	SS
P16056	Met	Hepatocyte growth factor receptor	Mus musculus (Mouse)	PR
P70206	Plxna1	Plexin-A1	Mus musculus (Mouse)	EV SS
Q80UG2	Plxna4	Plexin-A4	Mus musculus (Mouse)	SS
Q2QLE0	MET	Hepatocyte growth factor receptor	Sus scrofa (Pig)	PR
P97523	Met	Hepatocyte growth factor receptor	Rattus norvegicus (Rat)	PR
D3ZPX4	Plxna3	Plexin-A3	Rattus norvegicus (Rat)	SS
D3ZLH5	Plxnb3	Plexin-B3	Rattus norvegicus (Rat)	SS
B0S5N4	plxna3	Plexin A3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q6BEA0	plxna4	Plexin-A4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MKAMPWNWTC	LLSHLLMVGM	GSSTLLTRQP	APLSQKQRSF	VTFRGEPAEG	FNHLVVDERT
70	80	90	100	110	120
GHIYLGAVNR	IYKLSSDLKV	LVTHETGPDE	DNPKCYPPRI	VQTCNEPLTT	TNNVNKMLLI
130	140	150	160	170	180
DYKENRLIAC	GSLYQGICKL	LRLEDLFKLG	EPYHKKEHYL	SGVNESGSVF	GVIVSYSNLD
190	200	210	220	230	240
DKLFIATAVD	GKPEYFPTIS	SRKLTKNSEA	DGMFAYVFHD	EFVASMIKIP	SDTFTIIPDF
250	260	270	280	290	300
DIYYVYGFSS	GNFVYFLTLQ	PEMVSPPGST	TKEQVYTSKL	VRLCKEDTAF	NSYVEVPIGC
310	320	330	340	350	360
ERSGVEYRLL	QAAYLSKAGA	VLGRTLGVHP	DDDLLFTVFS	KGQKRKMKSL	DESALCIFIL
370	380	390	400	410	420
KQINDRIKER	LQSCYRGEGT	LDLAWLKVKD	IPCSSALLTI	DDNFCGLDMN	APLGVSDMVR
430	440	450	460	470	480
GIPVFTEDRD	RMTSVIAYVY	KNHSLAFVGT	KSGKLKKIRV	DGPRGNALQY	ETVQVVDPGP
490	500	510	520	530	540
VLRDMAFSKD	HEQLYIMSER	QLTRVPVESC	GQYQSCGECL	GSGDPHCGWC	VLHNTCTRKE
550	560	570	580	590	600
RCERSKEPRR	FASEMKQCVR	LTVHPNNISV	SQYNVLLVLE	TYNVPELSAG	VNCTFEDLSE
610	620	630	640	650	660
MDGLVVGNQI	QCYSPAAKEV	PRIITENGDH	HVVQLQLKSK	ETGMTFASTS	FVFYNCSVHN
670	680	690	700	710	720
SCLSCVESPY	RCHWCKYRHV	CTHDPKTCSF	QEGRVKLPED	CPQLLRVDKI	LVPVEVIKPI
730	740	750	760	770	780
TLKAKNLPQP	QSGQRGYECI	LNIQGSEQRV	PALRFNSSSV	QCQNTSYSYE	GMEINNLPVE
790	800	810	820	830	840
LTVVWNGHFN	IDNPAQNKVH	LYKCGAMRES	CGLCLKADPD	FACGWCQGPG	QCTLRQHCPA
850	860	870	880	890	900
QESQWLELSG	AKSKCTNPRI	TEIIPVTGPR	EGGTKVTIRG	ENLGLEFRDI	ASHVKVAGVE
910	920	930	940	950	960
CSPLVDGYIP	AEQIVCEMGE	AKPSQHAGFV	EICVAVCRPE	FMARSSQLYY	FMTLTLSDLK
970	980	990	1000	1010	1020
PSRGPMSGGT	QVTITGTNLN	AGSNVVVMFG	KQPCLFHRRS	PSYIVCNTTS	SDEVLEMKVS
1030	1040	1050	1060	1070	1080
VQVDRAKIHQ	DLVFQYVEDP	TIVRIEPEWS	IVSGNTPIAV	WGTHLDLIQN	PQIRAKHGGK
1090	1100	1110	1120	1130	1140
EHINICEVLN	ATEMTCQAPA	LALGPDHQSD	LTERPEEFGF	ILDNVQSLLI	LNKTNFTYYP
1150	1160	1170	1180	1190	1200
NPVFEAFGPS	GILELKPGTP	IILKGKNLIP	PVAGGNVKLN	YTVLVGEKPC	TVTVSDVQLL
1210	1220	1230	1240	1250	1260
CESPNLIGRH	KVMARVGGME	YSPGMVYIAP	DSPLSLPAIV	SIAVAGGLLI	IFIVAVLIAY
1270	1280	1290	1300	1310	1320
KRKSRESDLT	LKRLQMQMDN	LESRVALECK	EAFAELQTDI	HELTSDLDGA	GIPFLDYRTY
1330	1340	1350	1360	1370	1380
TMRVLFPGIE	DHPVLRDLEV	PGYRQERVEK	GLKLFAQLIN	NKVFLLSFIR	TLESQRSFSM
1390	1400	1410	1420	1430	1440
RDRGNVASLI	MTVLQSKLEY	ATDVLKQLLA	DLIDKNLESK	NHPKLLLRRT	ESVAEKMLTN
1450	1460	1470	1480	1490	1500
WFTFLLYKFL	KECAGEPLFS	LFCAIKQQME	KGPIDAITGE	ARYSLSEDKL	IRQQIDYKTL
1510	1520	1530	1540	1550	1560
VLSCVSPDNA	NSPEVPVKIL	NCDTITQVKE	KILDAIFKNV	PCSHRPKAAD	MDLEWRQGSG
1570	1580	1590	1600	1610	1620
ARMILQDEDI	TTKIENDWKR	LNTLAHYQVP	DGSVVALVSK	QVTAYNAVNN	STVSRTSASK
1630	1640	1650	1660	1670	1680
YENMIRYTGS	PDSLRSRTPM	ITPDLESGVK	MWHLVKNHEH	GDQKEGDRGS	KMVSEIYLTR
1690	1700	1710	1720	1730	1740
LLATKGTLQK	FVDDLFETIF	STAHRGSALP	LAIKYMFDFL	DEQADKHGIH	DPHVRHTWKS
1750	1760	1770	1780	1790	1800
NCLPLRFWVN	MIKNPQFVFD	IHKNSITDAC	LSVVAQTFMD	SCSTSEHRLG	KDSPSNKLLY
1810	1820	1830	1840	1850	1860
AKDIPSYKNW	VERYYSDIGK	MPAISDQDMN	AYLAEQSRMH	MNEFNTMSAL	SEIFSYVGKY
1870	1880	1890
SEEILGPLDH	DDQCGKQKLA	YKLEQVITLM	SLDS

Descriptions

Annotation based on sequence homology with Q9UIW2

Autoinhibitory domains (AIDs)

Accessory elements

References

Autoinhibited structure

Activated structure

2 structures for Q9HCM2

1840 variants for Q9HCM2

No associated diseases with Q9HCM2

6 regional properties for Q9HCM2

Functions

3 GO annotations of cellular component

1 GO annotations of molecular function

21 GO annotations of biological process

27 homologous proteins in AiPD