AiPD: Autoinhibited Protein Database

Q76LX8

Gene name	ADAMTS13 (C9orf8, UNQ6102/PRO20085)
Protein name	A disintegrin and metalloproteinase with thrombospondin motifs 13
Names	ADAM-TS 13, ADAM-TS13, ADAMTS-13, von Willebrand factor-cleaving protease, vWF-CP, vWF-cleaving protease
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11093
EC number	3.4.24.87: Metalloendopeptidases
Protein Class	ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE (PTHR13723)

Descriptions

ADAMTS13 (A Disintegrin and Metalloprotease with Thrombospondin type 1 repeats, member 13) is a member of the ADAMTS type 1 repeats family of metalloproteases and a multidomain protein with Ca2+ and Zn2+-dependent metalloprotease (M), disintegrin-like (D), thrombospondin-1 repeat (TSP1), Cys-rich (C), and Spacer (S) domains, followed by 7 TSP domains and 2 CUB (complement components C1r and C1s, sea urchin protein Uegf, and bone morphogenetic protein-1) domains. ADAMTS13 specifically cleaves VWF (von Willebrand Factor) to prevent excessive platelet aggregation and thrombus formation at the sites of vascular injury. To avoid non-specific cleavage, ADAMTS13 has the autoinhibition effect in which the Spacer domain in N-terminal interacts with the TSP8-CUB2 domains in C-terminal, resulting in decreased proteolytic activity. The autoinhibition of ADAMTS13 is relieved by the binding of the VWF D4-CK region to the C-terminal regions of ADAMTS13. The binding facilitates the exosites on the Spacer, Cys, and Dis domains to interact with the discrete binding sites on the unfolded VWF A2 domain, and then the metalloprotease domain is allosterically activated and cleaves the VWF scissile bond.

Autoinhibitory domains (AIDs)

Target domain	80-286 (Peptidase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

558-680 (Spacer domain)

Target domain

80-286 (Peptidase domain)

Relief mechanism

Partner binding (VWF binding)

Assay

Deletion assay, Structural analysis

Target domain	80-286 (Peptidase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1072-1131 (TSP8 domain)

Target domain

80-286 (Peptidase domain)

Relief mechanism

Partner binding (VWF binding)

Assay

Deletion assay, Structural analysis

Target domain	80-286 (Peptidase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1132-1188 (TSP8-CUB1 linker)

Target domain

80-286 (Peptidase domain)

Relief mechanism

Partner binding (VWF binding)

Assay

Deletion assay, Structural analysis

Target domain	80-286 (Peptidase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1189-1274 (CUB1 domain)

Target domain

80-286 (Peptidase domain)

Relief mechanism

Partner binding (VWF binding)

Assay

Deletion assay, Structural analysis

Target domain	80-286 (Peptidase domain)
Relief mechanism	Partner binding
Assay	Deletion assay, Structural analysis

AID

1295-1405 (CUB2 domain)

Target domain

80-286 (Peptidase domain)

Relief mechanism

Partner binding (VWF binding)

Assay

Deletion assay, Structural analysis

Accessory elements

No accessory elements

References

Yang J et al. (2021) "Characterization of the interactions of ADAMTS13 CUB1 domain to WT- and GOF-Spacer domain by molecular dynamics simulation", Journal of molecular graphics & modelling, 109, 108029

Wu Z et al. (2021) "Residues R1075, D1090, R1095, and C1130 Are Critical in ADAMTS13 TSP8-Spacer Interaction Predicted by Molecular Dynamics Simulation", Molecules (Basel, Switzerland), 26,

Zhu J et al. (2019) "Exploring the "minimal" structure of a functional ADAMTS13 by mutagenesis and small-angle X-ray scattering", Blood, 133, 1909-1918

Autoinhibited structure

Activated structure

6 structures for Q76LX8

Entry ID	Method	Resolution	Chain	Position	Source
3GHM	X-ray	260 A	A	287-685	PDB
3GHN	X-ray	280 A	A	287-685	PDB
3VN4	X-ray	280 A	A	287-685	PDB
6QIG	X-ray	280 A	A	79-682	PDB
7B01	X-ray	280 A	A	1185-1427	PDB
AF-Q76LX8-F1	Predicted				AlphaFoldDB

1334 variants for Q76LX8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs34024143 RCV000350481 VAR_027109 RCV001711741 CA10587022 RCV000252211	7	R>W	Upshaw-Schulman syndrome does not affect protein secretion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001168076 CA200879426 rs201522226 RCV003321802 RCV003246741	46	V>M	Upshaw-Schulman syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000059763 rs281875297 CA220010 VAR_067770	79	I>M	TTP [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281875302 VAR_027110 RCV000778160 RCV000059764 CA220013	88	V>M	Variant assessed as Somatic; MODERATE impact. Upshaw-Schulman syndrome TTP; reduces protein secretion and proteolytic activity [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
VAR_027111 CA117739 rs121908467 RCV000006154	96	H>D	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs387906345 RCV000006176	98	E>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_027112 COSM1460806 RCV000006156 COSM5129875 rs121908469 CA117745	102	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine Upshaw-Schulman syndrome TTP [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA dbSNP
RCV002221146 rs281875291 RCV000059769 VAR_067771 CA220028	119	S>F	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
COSM3655276 CA200881215 COSM1106428 rs587701622 RCV001168844	125	R>W	Variant assessed as Somatic; MODERATE impact. endometrium Upshaw-Schulman syndrome [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA200921838 rs145175796 RCV001507762 RCV001333529	143	I>V	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369026148 RCV000778877 CA200921893	154	V>I	Variant assessed as Somatic; MODERATE impact. Upshaw-Schulman syndrome [NCI-TCGA, ClinVar]	Yes	ESP ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP
CA200921929 RCV001817072 RCV002495345 rs141932927 RCV000881470	167	T>M	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA220044 VAR_067772 rs281875289 RCV000059774	178	I>T	TTP [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001507763 CA200922204 RCV000778929 rs148312697	187	D>H	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000059775 rs281875287 VAR_027113 CA220047 RCV000516791	193	R>W	Upshaw-Schulman syndrome TTP; low activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA375383306 RCV000677303 RCV002531387 rs1554785242	194	G>V	Thrombotic thrombocytopenic purpura [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001507764 RCV000006157 VAR_027114 CA117748 rs121908470	196	T>I	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA220050 RCV000059776 VAR_067773 rs281875298	203	S>P	TTP [UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs281875292 CA220053 RCV000059777 VAR_067774	232	L>Q	TTP [UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs281875304 VAR_027115 CA220056 RCV000059778	234	H>Q	TTP [UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
RCV000059779 RCV003313775 CA220059 VAR_067775 rs281875337	235	D>H	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV001167526 CA375384864 rs1554785883	239	G>S	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000006174 CA117785 VAR_027116 rs121908478	250	A>V	Upshaw-Schulman syndrome TTP; mild effect on protein secretion; strong reduction of proteolytic activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000397563 rs886063632 CA10633053 RCV002524588	259	G>S	Upshaw-Schulman syndrome Inborn genetic diseases [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
rs281875293 CA220062 RCV000059780 VAR_067776	263	S>C	TTP [UniProt]	Yes	TOPMed ClinGen ClinVar UniProt dbSNP
VAR_027117 CA117776 rs121908477 RCV000006168	268	R>P	Upshaw-Schulman syndrome TTP; affects protein secretion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs1344972182 CA375385504 RCV001167527 CA375385505	272	S>R	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA375387735 rs1232529325 RCV001168152	302	G>D	Upshaw-Schulman syndrome [ClinVar]	Yes	TOPMed gnomAD ClinGen ClinVar dbSNP
rs281875285 RCV000059781 CA220065 VAR_067777	304	Y>C	TTP [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000059782 VAR_067778 CA220068 rs281875336	311	C>Y	TTP [UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
RCV001168910 CA200926499 rs115943536 RCV000886749	341	P>L	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs281875294 CA219971 RCV000059750 VAR_067780	347	C>S	TTP [UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs281875288 VAR_067781 RCV000059751 CA219974	349	R>C	Variant assessed as Somatic; MODERATE impact. TTP [NCI-TCGA, UniProt]	Yes	TOPMed gnomAD ClinGen ClinVar UniProt NCI-TCGA dbSNP
VAR_067782 rs281875338 CA219977 RCV000059752	353	P>L	TTP [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs142214608 RCV001168911 RCV002557458 CA200926912	386	R>C	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001859095 rs151048660 RCV001168912 CA200926915	386	R>H	Upshaw-Schulman syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs281875306 CA219980 VAR_027118 RCV000059753	390	W>C	TTP [UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
CA117751 rs121908471 COSM36777 RCV000006158 VAR_027119	398	R>H	Variant assessed as Somatic; MODERATE impact. skin Upshaw-Schulman syndrome TTP [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	gnomAD ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA dbSNP
CA200927187 rs145825553 RCV000520845 RCV001253918 RCV003128409	421	R>C	Upshaw-Schulman syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA358426 COSM3763721 RCV000241706 rs2301612 VAR_027120 RCV000006169 RCV002055012 RCV000275338	448	Q>E	large_intestine Upshaw-Schulman syndrome does not affect protein secretion; normal proteolytic activity [Cosmic, ClinVar, UniProt]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
RCV000006167 CA117772 rs121908476	449	Q>*	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs375508823 RCV002537718 RCV001328113 CA200929626	451	A>T	Atypical hemolytic-uremic syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000246702 VAR_027162 RCV000375633 RCV000972467 rs36220239 CA10587032	456	Q>H	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001328115 RCV001420918 RCV000886026 RCV000279550 VAR_027163 CA10626723 rs36220240	457	P>L	Atypical hemolytic-uremic syndrome Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000767050 COSM1739556 RCV000006170 CA117779 rs11575933 RCV000251648 VAR_027121	475	P>S	Upshaw-Schulman syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
RCV000059754 CA219983 rs281875296 VAR_067783	507	R>Q	TTP [UniProt]	Yes	ExAC gnomAD ClinGen ClinVar UniProt dbSNP
CA219986 RCV000059755 VAR_027122 RCV000006169 rs281875305	508	C>Y	Upshaw-Schulman syndrome TTP; impairs protein secretion [ClinVar, UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
rs281875286 VAR_067784 CA219989 RCV000059756	525	G>D	TTP [UniProt]	Yes	Ensembl ClinGen ClinVar UniProt dbSNP
rs121908473 RCV000006160 VAR_027123 CA117757	528	R>G	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	ExAC gnomAD ClinGen ClinVar UniProt dbSNP
RCV000006171 rs387906344	595	L>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
VAR_067785 rs281875299 RCV000059757 RCV000852051 CA219992 COSM3905298	596	A>V	Thrombotic thrombocytopenic purpura Variant assessed as Somatic; MODERATE impact. TTP [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt NCI-TCGA dbSNP gnomAD
RCV001333526 RCV002546637 rs34256013 CA200932344	604	V>I	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA219995 VAR_067786 rs281875290 RCV000059758	606	A>P	TTP [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001168970 rs1841574241	611	I>V	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001168971 RCV002532398 RCV000597710 CA200932443 rs782396358	614	N>T	Upshaw-Schulman syndrome Inborn genetic diseases [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000244738 RCV000345892 COSM4163495 CA10587034 VAR_027124 RCV001651270 rs28647808	618	P>A	thyroid Upshaw-Schulman syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000956760 RCV000397358 rs36090624 CA10587035 VAR_027125 RCV000248888	625	R>H	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001166073 rs138699340 CA200932562	639	R>H	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA10626727 RCV000306805 rs782659882	644	R>C	Variant assessed as Somatic; MODERATE impact. Upshaw-Schulman syndrome [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA219998 RCV000059759 rs281875335 VAR_067787	658	Y>C	TTP [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs117943654 RCV001328114 CA200933847	660	R>Q	Atypical hemolytic-uremic syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA220001 rs281875295 RCV000059760 VAR_067788	671	P>L	TTP [UniProt]	Yes	ExAC gnomAD ClinGen ClinVar UniProt dbSNP
RCV000059761 CA220004 RCV000779575 rs281875307 VAR_027126	673	I>F	Upshaw-Schulman syndrome TTP; impairs protein secretion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
COSM3788200 VAR_027127 RCV000006165 CA117769 rs121908475 RCV002512822	692	R>C	pancreas Upshaw-Schulman syndrome TTP [Cosmic, ClinVar, UniProt]	Yes	ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
RCV001166074 rs367818172 CA200933954	697	V>M	Upshaw-Schulman syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA200934097 RCV000490375 rs138014548 RCV002515591	723	Q>K	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000220213 rs41314453 CA10576747 RCV002054940 VAR_027128 RCV002485379	732	A>V	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554791280 CA375397469 RCV000677341	737	C>R	Thrombotic thrombocytopenic purpura [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000249156 RCV000312426 RCV000972469 CA10587037 VAR_027164 rs36221451	740	E>K	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV000059762 VAR_067789 rs281875300 CA220007	758	C>R	TTP [UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
RCV000367074 rs374606481 RCV000597955 CA10633064	770	V>M	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA200934867 RCV001168292 rs781957737	789	A>T	Upshaw-Schulman syndrome [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs387906342 RCV000006162	793	A>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
rs34104386 RCV001818937 CA200936010 RCV001168293 RCV000947212	832	V>M	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA375399840 RCV001168294 rs1554792055	837	G>S	Upshaw-Schulman syndrome [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
CA200936055 rs140639242 RCV001356938 RCV002280897 RCV001168295	849	V>I	Thrombus Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_027129 RCV000373306 RCV000248759 COSM3763723 RCV001668602 rs685523 CA10587040	900	A>V	large_intestine Upshaw-Schulman syndrome [Cosmic, ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
CA10626730 RCV000259864 rs78977446 RCV002523749 VAR_027130	903	S>L	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV000059766 CA220019 rs281875301 VAR_067790	908	C>S	TTP [UniProt]	Yes	ExAC gnomAD ClinGen ClinVar UniProt dbSNP
RCV000059765 CA220016 rs281875301 VAR_027131	908	C>Y	TTP; impairs protein secretion [UniProt]	Yes	ExAC gnomAD ClinGen ClinVar UniProt dbSNP
CA200939080 rs149265456 RCV001169025	943	R>W	Upshaw-Schulman syndrome [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000006155 VAR_027132 rs121908468 CA117742	951	C>G	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV002557462 rs200273776 CA200939160 RCV001169026	954	R>Q	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1588198044 RCV000988285	955	W>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
CA200940013 RCV001166126 rs141811556 RCV002559590 COSM455545	964	V>M	endometrium Upshaw-Schulman syndrome breast [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA200940029 rs978677428 RCV001166127	971	V>A	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000284710 rs139951127 RCV002523750 CA10629426	972	R>Q	Variant assessed as Somatic; MODERATE impact. Upshaw-Schulman syndrome [NCI-TCGA, ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar NCI-TCGA dbSNP
RCV000006177 VAR_067791 rs387906346	977	C>W	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	ClinVar dbSNP UniProt
RCV000339765 rs886063635	979	R>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000006159 VAR_027133 rs121908472 RCV002512821 CA117754	1024	C>G	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
rs28503257 RCV001723859 VAR_027134 RCV000345688 RCV000241840 CA10587044	1033	A>T	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA200943168 rs376017677 RCV001166613 RCV002559597	1056	A>V	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA200943195 RCV001168359 rs587731517 RCV002558664	1060	R>Q	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs142572218 RCV000779576 VAR_067792 RCV002469002 RCV000059767 CA220022	1060	R>W	Thrombotic thrombocytopenic purpura Upshaw-Schulman syndrome TTP; affects protein secretion; the mutant protein has reduced protease activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000436524 rs61751476 CA10587048 RCV000247897 RCV000351572	1096	R>H	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
COSM1460817 CA220025 VAR_027136 rs281875340 RCV000059768	1123	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine TTP; impairs protein secretion; the mutant protein has reduced protease activity [NCI-TCGA, Cosmic, UniProt]	Yes	Ensembl ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt NCI-TCGA dbSNP
RCV001168360 RCV002558665 CA200944144 rs781785040	1140	P>L	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001168363 CA200944171 RCV000906729 rs141494468	1149	R>W	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA200944301 RCV001169109 rs782166349	1179	L>Q	Upshaw-Schulman syndrome [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000960911 RCV000677302 RCV001169110 rs192619276 CA200944303	1181	G>R	Thrombotic thrombocytopenic purpura Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1060499780 RCV000454327	1183	Q>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV001171885 CA200944757 rs781885530 RCV002497603	1206	R>Q	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_027137 rs121908474 CA117766 RCV000006164	1213	C>Y	Upshaw-Schulman syndrome TTP [ClinVar, UniProt]	Yes	gnomAD ClinGen ClinVar UniProt dbSNP
COSM1742694 RCV000059770 CA220031 rs281875339 VAR_067793	1219	R>W	biliary_tract TTP; affects protein secretion; the mutant protein has reduced protease activity [Cosmic, UniProt]	Yes	ExAC gnomAD ClinGen cosmic curated ClinVar UniProt dbSNP
CA200944844 RCV000903309 RCV001818762 RCV001169111 VAR_027166 rs36222894	1226	T>I	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001169112 rs587643681 CA200944855	1229	V>I	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001169114 RCV002558677 CA200944879 rs587697598	1238	A>V	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes TOPMed gnomAD ClinGen ClinVar dbSNP
rs281875303 RCV000059771 VAR_027138 CA220034	1239	G>V	TTP; impairs protein secretion [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA16605568 RCV002488929 rs1057522240 RCV002521747 RCV000440047	1241	M>T	Upshaw-Schulman syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs387906341 RCV000006161	1258	L>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10626737 rs782798764 RCV002523752 RCV000299154	1266	T>S	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000658135 rs144808448 RCV000360950 CA10629432	1276	G>R	Upshaw-Schulman syndrome [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
VAR_067794 rs142060916 RCV001166191 CA220037 RCV000059772	1314	S>L	Upshaw-Schulman syndrome found in a patient with hemolytic uremic syndrome [ClinVar, UniProt]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV001166192 RCV002559592 CA200946707 rs375824927	1319	T>M	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001166686 CA200946718 rs200645384	1321	N>S	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_027139 RCV000059773 rs281875308 CA220041	1336	R>W	TTP; impairs protein secretion and proteolytic activity [UniProt]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV000505689 rs1554797078	1369	T>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
CA10629437 RCV000321320 rs782145338	1370	A>V	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001166687 rs1842931730	1375	Q>R	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
RCV000006163 RCV001851691 rs387906343	1382	E>missing	Upshaw-Schulman syndrome [ClinVar]	Yes	ClinVar dbSNP
CA200947657 RCV002558633 RCV001166689 rs782518928	1396	K>N	Upshaw-Schulman syndrome [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs782013900 CA200878991	2	H>Y		No	ExAC gnomAD ClinGen
CA200878996 rs782300973	3	Q>K		No	ClinGen ExAC gnomAD
rs782204201 CA200878998	4	R>C		No	ClinGen ExAC TOPMed gnomAD
CA200879002 rs370406676	4	R>H		No	ClinGen ExAC TOPMed gnomAD
CA200879006 rs77985067	5	H>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs782717483 CA200879015	6	P>R		No	ClinGen ExAC TOPMed gnomAD
CA200879010 rs375023076	6	P>S		No	ClinGen ESP ExAC TOPMed
rs34024143 CA200879019	7	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200879023 rs782744929	7	R>Q		No	ClinGen ExAC gnomAD
rs1291133178 CA375706659	10	C>Y		No	TOPMed ClinGen
CA375706670 rs1446552024	12	P>S		No	TOPMed ClinGen
CA375706686 rs782679501	14	C>F		No	ClinGen ExAC TOPMed gnomAD
CA200879050 rs782679501	14	C>S		No	ClinGen ExAC TOPMed gnomAD
CA375706701 rs1554783636	17	G>R		No	ClinGen gnomAD
rs138886920 CA200879053	18	I>V		No	ClinGen ESP ExAC gnomAD
CA200879054 rs782561010	19	L>F		No	ExAC TOPMed gnomAD ClinGen
CA200879055 rs142293909	20	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200879058 rs964642490	28	W>*		No	ClinGen Ensembl
rs1387967134 CA375706782	29	G>A		No	ClinGen TOPMed gnomAD
CA375706781 rs1387967134	29	G>E		No	TOPMed gnomAD ClinGen
rs1554783678 CA375706789	30	P>L		No	gnomAD ClinGen
rs1554783675 CA375706785	30	P>S		No	ClinGen gnomAD
CA200879068 rs782296373	31	S>F		No	ExAC gnomAD ClinGen
CA375706793 rs782296373	31	S>Y		No	ExAC gnomAD ClinGen
rs1564405781 CA375706803	33	F>V		No	Ensembl ClinGen
TCGA novel	34	Q>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375706840 rs1554784004	36	S>G		No	gnomAD ClinGen
CA375706841 rs1554784005	36	S>N		No	ClinGen gnomAD
TCGA novel	38	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554784008 CA375706872	40	A>G		No	gnomAD ClinGen
CA375706877 rs1588149754	41	L>W		No	Ensembl ClinGen
CA200879407 rs999352582	43	P>L		No	ClinGen Ensembl
rs1554784015 CA375706896	44	Q>*		No	gnomAD ClinGen
CA375706894 rs1554784015	44	Q>K		No	ClinGen gnomAD
CA375706897 rs1554784018	44	Q>L		No	gnomAD ClinGen
rs782570157 CA200879409	45	A>D		No	ExAC TOPMed gnomAD ClinGen
CA200879429 rs201522226	46	V>L		No	ExAC TOPMed gnomAD ClinGen
CA375706920 rs1554784034	48	S>Y		No	ClinGen gnomAD
rs373832736 CA200879434	49	Y>C		No	ClinGen ESP TOPMed gnomAD
rs782217202 CA200879437	50	L>F		No	ExAC gnomAD ClinGen
rs1252090544 CA375706934	50	L>W		No	TOPMed ClinGen
rs1194058886 CA375706941	51	S>I		No	ClinGen TOPMed
rs1554784062 CA375706953	53	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1469680005 CA375706976	57	K>E		No	TOPMed ClinGen
rs139735640 CA200880094	59	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1106424 rs370929256 CA200880096	59	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
rs370929256 CA200880098	59	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs782677352 CA200880107	60	P>L		No	ClinGen ExAC TOPMed gnomAD
rs370611753 CA375707005	60	P>S		No	ClinGen ESP TOPMed gnomAD
rs370611753 CA200880102	60	P>T		No	ESP TOPMed gnomAD ClinGen
rs782680569 CA200880110	61	P>A		No	ClinGen ExAC gnomAD
rs1554784541 CA375707011	61	P>R		No	ClinGen gnomAD
rs375370257 CA200880116	62	S>F		No	ClinGen ESP ExAC gnomAD
CA375707022 rs1554784553	63	P>R		No	ClinGen gnomAD
rs1554784549 CA375707020	63	P>S		No	ClinGen gnomAD
CA200880123 rs782453359	65	F>L		No	ClinGen ExAC gnomAD
CA375707037 rs1554784570	66	Q>*		No	ClinGen gnomAD
CA200880149 rs782576304	68	Q>*		No	ClinGen ExAC gnomAD
CA375707056 rs1196047412	68	Q>R		No	ClinGen TOPMed gnomAD
CA375707084 rs1554784580	72	Q>*		No	ClinGen gnomAD
CA375707097 rs1255730642	74	R>G		No	TOPMed gnomAD ClinGen
CA375707099 rs1554784584	74	R>Q		No	ClinGen gnomAD
rs1255730642 CA375707098	74	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA200880155 rs142366230	75	A>G		No	ESP ExAC gnomAD ClinGen
CA375707107 rs1554784596	76	A>S		No	ClinGen gnomAD
rs782302107 CA200880166	76	A>V		No	ExAC gnomAD ClinGen
CA375707119 rs587712720	78	G>C		No	1000Genomes ExAC gnomAD ClinGen
CA200880187 rs782188171	78	G>D		No	ExAC gnomAD ClinGen
rs587712720 CA200880183	78	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA200880188 rs782188171	78	G>V		No	ExAC gnomAD ClinGen
CA375707134 rs781958663	81	H>P		No	ExAC gnomAD ClinGen
rs781958663 CA200880214	81	H>R		No	ExAC gnomAD ClinGen
rs148644959 CA200880212	81	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs587611213 CA200880225	83	E>K		No	1000Genomes ExAC gnomAD ClinGen
CA200880244 rs1055586573	86	V>G		No	ClinGen Ensembl
CA200880269 rs782149039	91	D>G		No	ExAC gnomAD ClinGen
CA375707197 rs1554784634	92	V>I		No	ClinGen gnomAD
CA375707202 rs1564407762	93	F>L		No	ClinGen Ensembl
CA200880281 rs370263552	95	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000999267 CA200880282 rs781788692	97	Q>R		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1564407799 CA375707238	98	E>K		No	ClinGen Ensembl
rs782483941 CA200880283	99	D>E		No	ExAC gnomAD ClinGen
CA200880293 rs782716712	102	R>H		No	ExAC TOPMed gnomAD ClinGen
CA375707266 rs121908469	102	R>S		No	TOPMed gnomAD ClinGen
rs782488906 CA200880297	105	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782681039 CA200880301	106	T>N		No	ExAC gnomAD ClinGen
rs1554784662 CA375707296	107	N>T		No	gnomAD ClinGen
CA375707314 rs1466092212	109	N>K		No	TOPMed gnomAD ClinGen
CA375707311 rs1554784668	109	N>S		No	ClinGen gnomAD
rs142107133 COSM1106426	110	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
CA200881166 rs782188741	112	A>P		No	ClinGen ExAC TOPMed gnomAD
CA200881167 rs782188741	112	A>S		No	ClinGen ExAC TOPMed gnomAD
CA375707339 rs782188741	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554784979 CA375707352	114	L>V		No	gnomAD ClinGen
rs151206890 CA200881176	116	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200881171 rs782209298	116	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554784982 CA375707375	118	P>A		No	gnomAD ClinGen
rs587698109 CA200881185	118	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554784988 CA375707384	120	L>V		No	gnomAD ClinGen
rs938379065 CA200881211	121	G>E		No	TOPMed ClinGen
COSM4659460 COSM4659459	122	A>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs587602236 CA200881218	125	R>Q		No	1000Genomes ExAC gnomAD ClinGen
TCGA novel	126	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554785000 CA375707418	126	V>M		No	ClinGen gnomAD
rs915579942 CA200881222	127	H>Y		No	TOPMed ClinGen
CA375707449 rs1554785007	130	K>N		No	gnomAD ClinGen
rs1158385995 CA375707451	131	M>V		No	ClinGen TOPMed
CA200881223 rs147643918	134	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM487189 rs782814321 CA200881224	135	T>I	kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA200881229 rs142237685	136	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375707489 rs782464030	137	P>A		No	ExAC TOPMed gnomAD ClinGen
CA200881234 rs782464030	137	P>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	138	E>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781882283 CA200921834	139	G>C		No	ClinGen ExAC gnomAD
rs1375463568 CA375382452	139	G>D		No	ClinGen TOPMed gnomAD
rs1375463568 CA375382454	139	G>V		No	ClinGen TOPMed gnomAD
CA200921835 rs782445469	140	A>T		No	ExAC gnomAD ClinGen
rs1554785124 CA375382470	141	P>A		No	gnomAD ClinGen
CA200921864 rs782644086	144	T>I		No	ExAC gnomAD ClinGen
rs888709549 CA200921867	146	N>Y		No	ClinGen TOPMed
rs377681196 CA200921871	149	S>L		No	ExAC TOPMed gnomAD ClinGen
COSM3655277 COSM3655278	150	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375382587 rs1386875680	150	S>P		No	TOPMed ClinGen
CA375382625 rs1238761338	153	S>C		No	TOPMed ClinGen
CA200921904 rs960182066	159	Q>H		No	ClinGen TOPMed
rs782127630 CA200921899	159	Q>P		No	ClinGen ExAC gnomAD
CA200921907 rs587696077	160	T>I		No	ClinGen 1000Genomes gnomAD
rs782747858 CA375382722	162	N>S		No	ClinGen ExAC TOPMed gnomAD
CA200921911 rs782747858	162	N>T		No	ExAC TOPMed gnomAD ClinGen
CA375382728 rs1554785156	163	P>S		No	gnomAD ClinGen
TCGA novel	165	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781825239 CA200921927	166	D>N		No	ClinGen ExAC gnomAD
TCGA novel	170	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554785165 CA375382859	173	D>G		No	ClinGen gnomAD
rs782799810 CA200921954	175	V>A		No	ClinGen ExAC gnomAD
COSM1106430	175	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200921959 rs781854972	176	L>F		No	ClinGen ExAC TOPMed gnomAD
rs200594025 CA200921960	177	Y>C		No	1000Genomes ClinGen
RCV000722963 CA375382994 rs1564409613	180	R>S		No	Ensembl ClinGen ClinVar dbSNP
COSM6182645 COSM6182644	182	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375383064 rs1554785228	183	L>Q		No	ClinGen gnomAD
COSM5212395 COSM1489772	189	N>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs142152759 CA375383224	190	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA200922217 rs142152759	190	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782650307 CA200922212	190	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1588153704 CA375383272	192	V>G		No	Ensembl ClinGen
CA200922220 rs782083669	193	R>L		No	TOPMed gnomAD ClinGen
CA375383281 rs782083669	193	R>Q		No	TOPMed gnomAD ClinGen
CA375383289 rs1564409679	194	G>S		No	ClinGen Ensembl
rs138489501 CA200922231	195	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs1588153758 CA375383601	196	T>P		No	Ensembl ClinGen
CA375383623 rs782037445	197	Q>H		No	ExAC TOPMed gnomAD ClinGen
COSM1489773 CA200922244 COSM5222278 rs782328666	200	G>S	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA200922248 rs782095571	201	A>T		No	ExAC gnomAD ClinGen
CA375383686 rs281875298	203	S>T		No	Ensembl ClinGen
CA200922252 rs781874381	205	T>P		No	ExAC TOPMed gnomAD ClinGen
CA375383712 rs781874381	205	T>S		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	206	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA200922270 rs782804156	206	W>C		No	ClinGen ExAC gnomAD
rs782116819 CA200922264	206	W>R		No	ClinGen ExAC gnomAD
rs781884793 CA200922272	207	S>R		No	ExAC TOPMed gnomAD ClinGen
CA200922273 rs782442144	208	C>S		No	ClinGen ExAC gnomAD
rs1554785280 CA375383771	209	L>F		No	gnomAD ClinGen
rs199661242 CA200922279	210	I>M		No	ClinGen ExAC TOPMed gnomAD
rs965898322 CA200922286	212	E>K		No	TOPMed gnomAD ClinGen
CA200922293 rs782439387	213	D>E		No	ClinGen TOPMed
CA375383835 rs1184758928	214	T>A		No	ClinGen TOPMed
CA200922302 rs782640617	215	G>S		No	ExAC gnomAD ClinGen
rs1554785300 CA375383881	217	D>E		No	gnomAD ClinGen
COSM608187 rs782305581 CA375383871 COSM1650854	217	D>H	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs782305581 CA200922319	217	D>N		No	ExAC TOPMed gnomAD ClinGen
CA375383872 rs782305581	217	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA375383904 rs1554785304	219	G>V		No	gnomAD ClinGen
rs1554785306 CA375383934	222	I>V		No	ClinGen gnomAD
rs782586734 CA200922325	223	A>T		No	ClinGen ExAC gnomAD
CA375383968 rs1588153927	224	H>Q		No	Ensembl ClinGen
rs1554785307 CA375383984	226	I>T		No	ClinGen gnomAD
CA375384794 rs1554785860	231	G>R		No	gnomAD ClinGen
rs1047417075 CA200923917	233	E>K		No	TOPMed ClinGen
rs1554785864 CA375384810	234	H>N		No	ClinGen gnomAD
CA200923922 rs281875337	235	D>N		No	ClinGen TOPMed gnomAD
CA375384817 rs281875337	235	D>Y		No	ClinGen TOPMed gnomAD
rs781916049 CA375384823	236	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781916049 CA200923925	236	G>S		No	ExAC TOPMed gnomAD ClinGen
rs1008791405 CA200923941	236	G>V		No	TOPMed ClinGen
rs1554785875 CA375384833	237	A>T		No	ClinGen gnomAD
CA375384871 rs1435196256	239	G>A		No	ClinGen TOPMed
CA375384903 rs1334348965	241	G>D		No	TOPMed ClinGen
rs1378030328 CA375384960	243	G>D		No	TOPMed ClinGen
rs1465338889 CA375384953	243	G>S		No	ClinGen TOPMed gnomAD
rs1426615628 CA375385000	246	G>*		No	TOPMed ClinGen
CA375385003 rs1554785908	246	G>E		No	ClinGen gnomAD
CA375385024 rs1187930896	247	H>Q		No	ClinGen TOPMed
CA375385028 rs1465452144	248	V>M		No	TOPMed gnomAD ClinGen
CA375385055 rs1250112730	249	M>I		No	ClinGen TOPMed
CA375385070 rs1198989508	250	A>S		No	TOPMed gnomAD ClinGen
rs1198989508 CA375385062	250	A>T		No	ClinGen TOPMed gnomAD
CA375385087 rs1256906438	251	S>*		No	ClinGen TOPMed gnomAD
rs1256906438 CA375385085	251	S>L		No	TOPMed gnomAD ClinGen
rs1554785923 CA375385110	253	G>S		No	gnomAD ClinGen
TCGA novel	254	A>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA200923964 rs782093693	254	A>T		No	ClinGen ExAC gnomAD
CA375385143 rs1554785929	255	A>V		No	gnomAD ClinGen
rs1310093662 CA375385228	260	L>F		No	TOPMed gnomAD ClinGen
rs1310093662 CA375385225	260	L>V		No	ClinGen TOPMed gnomAD
rs1460280106 CA375385253	261	A>S		No	TOPMed ClinGen
rs1169203842 TCGA novel CA375385280	262	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	TOPMed NCI-TCGA ClinGen
rs281875293 CA375385297	263	S>Y		No	TOPMed ClinGen
CA375385309 rs1554785960	264	P>T		No	gnomAD ClinGen
CA375385354 rs1185540803	266	S>G		No	ClinGen TOPMed
rs587623575 CA200923999	267	R>H		No	ClinGen 1000Genomes TOPMed
CA375385418 rs121908477	268	R>L		No	TOPMed ClinGen
rs1183963868 CA375385449	269	Q>H		No	ClinGen TOPMed gnomAD
rs1482313650 CA375385457	270	L>V		No	TOPMed gnomAD ClinGen
CA200924020 rs1052158104	271	L>M		No	TOPMed gnomAD ClinGen
rs1554785986 CA375385570	275	S>I		No	gnomAD ClinGen
rs1554785985 CA375385560	275	S>R		No	gnomAD ClinGen
CA375387283 rs1554786655	277	G>V		No	gnomAD ClinGen
rs1048430091 CA200924721	278	R>P		No	ClinGen TOPMed gnomAD
rs1300883719 CA375387288	278	R>W		No	TOPMed ClinGen
rs1554786663 CA375387322	279	A>V		No	gnomAD ClinGen
rs1313558410 CA375387330	280	R>C		No	ClinGen TOPMed gnomAD
rs1554786676 CA375387352	281	C>R		No	gnomAD ClinGen
rs782674608 CA200924724	282	V>L		No	ClinGen ExAC gnomAD
TCGA novel	283	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200924726 rs995701451	284	D>A		No	ClinGen gnomAD
rs1554786692 CA375387430	284	D>E		No	ClinGen gnomAD
rs995701451 CA375387422	284	D>G		No	ClinGen gnomAD
rs1436728713 CA375387416	284	D>Y		No	ClinGen TOPMed gnomAD
CA200924728 rs782184693	286	P>L		No	ExAC TOPMed gnomAD ClinGen
CA375387462 rs782184693	286	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1170060452 CA375387470	287	R>W		No	TOPMed ClinGen
rs1429373014 CA375387487	288	P>H		No	ClinGen TOPMed gnomAD
rs1429373014 CA375387491	288	P>L		No	TOPMed gnomAD ClinGen
CA200924730 rs782429486	289	Q>*		No	ExAC gnomAD ClinGen
rs1554786717 CA375387528	290	P>L		No	gnomAD ClinGen
CA200924734 rs782613885	290	P>S		No	ClinGen ExAC TOPMed gnomAD
CA200924736 rs782379766	291	G>A		No	ExAC TOPMed gnomAD ClinGen
CA375387544 rs782379766	291	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1554786728 CA375387533	291	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs782282073 CA200924741	292	S>T		No	ClinGen ExAC
CA200924743 rs782322129	292	S>Y		No	ExAC gnomAD ClinGen
rs781919201 CA200924746	293	A>T		No	ExAC gnomAD ClinGen
rs1258896299 CA375387603	294	G>V		No	TOPMed ClinGen
CA375387642 rs782102945	296	P>L		No	ClinGen ExAC gnomAD
CA200924750 rs782102945	296	P>Q		No	ExAC gnomAD ClinGen
rs1554786752 CA375387635	296	P>S		No	ClinGen gnomAD
CA200924755 rs782001479	297	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1027868756 CA200924771	299	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA375387698 rs1554786761	300	Q>E		No	gnomAD ClinGen
rs1250297692 CA375387702	300	Q>R		No	TOPMed ClinGen
CA200924773 rs782818563	301	P>R		No	ClinGen ExAC TOPMed gnomAD
CA375387738 rs1232529325	302	G>A		No	ClinGen TOPMed gnomAD
rs281875285 CA375387769	304	Y>F		No	TOPMed gnomAD ClinGen
CA200924802 rs150518374	307	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
COSM3664201 CA375387816 rs1554786784	308	N>K	liver [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1554786787 CA375387817	309	E>K		No	ClinGen gnomAD
rs1554786788 CA375387841	310	Q>L		No	gnomAD ClinGen
CA375387862 rs1554786790	312	R>C		No	gnomAD ClinGen
rs1554786791 CA375387864	312	R>H		No	gnomAD ClinGen
rs782291570 CA200924814	314	A>V		No	Ensembl ClinGen
rs1030005935 CA375387954	317	P>L		No	ClinGen TOPMed
CA200924842 rs1030005935	317	P>R		No	ClinGen TOPMed
rs781911708 CA200924837	317	P>S		No	ClinGen ExAC gnomAD
rs1588160161 CA375388005	320	V>G		No	ClinGen Ensembl
CA200924860 rs782601193	321	A>P		No	ClinGen ExAC TOPMed gnomAD
CA200924856 COSM1460809 rs782601193	321	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA375388026 rs931645668	322	C>G		No	ClinGen gnomAD
CA200924864 rs931645668	322	C>R		No	gnomAD ClinGen
rs782360062 CA200924866	323	T>S		No	ExAC TOPMed gnomAD ClinGen
rs587667471 CA200924873	325	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1270950434 CA375388097	326	R>G		No	TOPMed gnomAD ClinGen
CA200924878 rs1007140315	327	E>D		No	ClinGen TOPMed gnomAD
CA375388113 rs1554786812	327	E>K		No	ClinGen gnomAD
rs1554787764 CA375388292	332	C>R		No	ClinGen gnomAD
CA375388326 rs1554787771	334	A>V		No	gnomAD ClinGen
CA375388330 rs1554787776	335	L>F		No	gnomAD ClinGen
CA375388338 rs1315949378	335	L>P		No	ClinGen TOPMed
CA200926472 rs782616826	338	H>L		No	ExAC gnomAD ClinGen
rs999786418 CA200926480	338	H>Q		No	TOPMed ClinGen
CA375388370 rs1375074970	338	H>Y		No	ClinGen TOPMed
CA200926481 rs895430608	339	T>A		No	Ensembl ClinGen
RCV000953764 VAR_067779 CA200926484 rs149517360	339	T>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA375388400 rs1588164340	340	D>A		No	ClinGen Ensembl
rs1554787801 CA375388397	340	D>N		No	gnomAD ClinGen
CA375388451 rs1365682424	344	Q>K		No	TOPMed gnomAD ClinGen
TCGA novel	347	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554787819 CA375388539	349	R>H		No	gnomAD ClinGen
rs1554787819 CA375388543	349	R>L		No	gnomAD ClinGen
CA375388534 rs281875288	349	R>S		No	TOPMed gnomAD ClinGen
TCGA novel	350	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs587706274 CA200926520	350	L>R		No	1000Genomes TOPMed gnomAD ClinGen
rs1588164413 CA375388578	352	V>G		No	ClinGen Ensembl
rs377191898 CA200926528	352	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs377191898 CA200926529	352	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190579844 CA375388624	356	D>G		No	ClinGen TOPMed
TCGA novel	359	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375388658 rs1490193869	359	E>K		No	TOPMed gnomAD ClinGen
CA375388655 rs1490193869	359	E>Q		No	TOPMed gnomAD ClinGen
CA375388679 rs1554787836	360	C>R		No	gnomAD ClinGen
CA200926534 rs867046617	361	G>D		No	Ensembl ClinGen
rs781924046 CA200926538	362	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1554787840 CA375388721	363	E>K		No	gnomAD ClinGen
COSM753279	365	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200926842 rs782270618	367	S>C		No	ExAC TOPMed gnomAD ClinGen
CA200926841 rs891315578	367	S>P		No	Ensembl ClinGen
rs782380073 CA200926843	368	K>E		No	ExAC ClinGen
rs374597782 CA200926844	368	K>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs145252342 CA200926847	370	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA200926852 rs200406381	370	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs781914134 CA200926856	372	R>C		No	ExAC gnomAD ClinGen
CA200926860 rs782091585	372	R>H		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	373	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375389103 rs1554788071	375	V>A		No	gnomAD ClinGen
rs371969346 CA200926867	375	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554788076 CA375389137	377	L>P		No	ClinGen gnomAD
rs782003178 CA375389160	378	T>N		No	ClinGen ExAC gnomAD
CA200926877 rs782003178	378	T>S		No	ClinGen ExAC gnomAD
rs782810090 CA200926898	380	I>V		No	ExAC gnomAD ClinGen
CA375389205 rs1161225862	381	A>P		No	TOPMed ClinGen
rs1554788093 CA375389301	384	H>L		No	ClinGen gnomAD
CA200926902 rs587613745	384	H>Y		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs142214608 CA200926909	386	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375389342 rs1554788111	387	W>*		No	ClinGen gnomAD
CA200926922 rs780251348	387	W>S		No	Ensembl ClinGen
TCGA novel	389	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200926924 rs782641144	389	S>R		No	ClinGen ExAC TOPMed gnomAD
rs374655146 CA200926932	390	W>*		No	ESP ExAC gnomAD ClinGen
CA200926944 rs782530823	392	P>S		No	ClinGen ExAC gnomAD
rs782570540 CA200926948	393	R>*		No	ClinGen ExAC gnomAD
CA200926945 rs782570540	393	R>G		No	ExAC gnomAD ClinGen
rs140937290 COSM6041376 CA200926954	393	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic NCI-TCGA
rs587750968 CA200926956	394	S>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	395	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375389491 rs1564418207	397	S>F		No	Ensembl ClinGen
CA375389480 rs1554788127	397	S>P		No	ClinGen gnomAD
rs376606652 CA200926963	398	R>C		No	ExAC ClinGen
CA200926973 rs782033728	401	G>R		No	ClinGen ExAC TOPMed gnomAD
CA375389549 rs1554788135	401	G>V		No	ClinGen gnomAD
CA375389568 rs1554788138	402	G>V		No	gnomAD ClinGen
rs782072116 CA200926975	403	G>V		No	ExAC gnomAD ClinGen
rs1554788148 CA375389624	406	T>I		No	gnomAD ClinGen
rs1554788149 CA375389647	408	R>W		No	gnomAD ClinGen
COSM3655279 rs1588165946 CA375389668	409	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic Ensembl
CA200926992 rs959872423	409	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1392479827 CA375389678	410	Q>R		No	TOPMed ClinGen
rs140582930 CA200926994	411	C>Y		No	ClinGen ESP ExAC gnomAD
CA375389757 rs1554788155	414	P>T		No	ClinGen gnomAD
rs1260570041 CA375389863	415	R>S		No	TOPMed ClinGen
rs369465957 CA200927122	416	P>H		No	ClinGen ESP TOPMed
CA200927117 rs782657509	416	P>S		No	ClinGen gnomAD
CA200927134 rs782077607	418	F>L		No	ExAC TOPMed ClinGen
CA200927180 rs1024726284	419	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	419	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1024726284 CA375389947	419	G>V		No	TOPMed gnomAD ClinGen
rs1008437698 CA200927155	419	G>W		No	TOPMed ClinGen
CA200927194 rs782541751	421	R>H		No	ExAC TOPMed gnomAD ClinGen
CA200927197 rs782541751	421	R>P		No	ExAC TOPMed gnomAD ClinGen
CA200927203 rs782492477	423	C>R		No	ClinGen ExAC gnomAD
rs1554788223 CA375389986	423	C>Y		No	gnomAD ClinGen
rs1554788224 CA375389999	424	V>F		No	ClinGen gnomAD
rs782602523 CA200927209	425	G>D		No	ClinGen ExAC gnomAD
rs782602523 CA200927214	425	G>V		No	ExAC gnomAD ClinGen
CA200927219 rs782519493	428	L>F		No	ClinGen ExAC gnomAD
CA200927224 rs782682017	428	L>P		No	ClinGen ExAC gnomAD
rs782278375 CA200927228	430	A>V		No	ClinGen ExAC
CA375390090 rs1175641593	431	E>A		No	ClinGen TOPMed
CA200927250 rs782224267	431	E>D		No	ExAC gnomAD ClinGen
CA200927247 rs781915989	431	E>K		No	ExAC TOPMed gnomAD ClinGen
CA200927253 rs141471395	432	M>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA200927258 rs781993871	434	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs587642546 CA200927261	436	Q>H		No	ClinGen 1000Genomes ExAC
CA375391424 rs1554789141	437	A>D		No	gnomAD ClinGen
CA375391428 rs1223405444	438	C>R		No	ClinGen TOPMed
RCV001270504 rs748223519	439	E>*		No	ClinVar dbSNP
CA200929534 rs748223519	439	E>K		No	ClinGen gnomAD
rs1554789145 CA375391450	440	K>N		No	ClinGen gnomAD
TCGA novel	441	T>D	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs902019660 CA200929543	441	T>S		No	gnomAD ClinGen
TCGA novel	442	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA200929547 rs782174746	443	L>M		No	ClinGen ExAC TOPMed gnomAD
rs587708651 CA200929553	444	E>*		No	1000Genomes ExAC gnomAD ClinGen
CA375391498 rs781813768	445	F>L		No	ExAC gnomAD ClinGen
CA200929558 rs781813768	445	F>V		No	ExAC gnomAD ClinGen
CA200929592 CA200929591 rs781815925	446	M>I		No	ClinGen ExAC TOPMed gnomAD
CA375391519 rs1554789156	446	M>T		No	gnomAD ClinGen
CA200929586 rs782733359	446	M>V		No	ExAC TOPMed gnomAD ClinGen
rs782630536 CA200929593	447	S>L		No	ClinGen ExAC TOPMed gnomAD
CA375391537 rs2301612	448	Q>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375391554 rs121908476	449	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs782344627 CA200929618	450	C>R		No	ExAC ClinGen
CA375391589 rs375508823	451	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375391596 rs1554789174	452	R>G		No	gnomAD ClinGen
rs782076268 CA200929631	454	D>H		No	ExAC TOPMed gnomAD ClinGen
rs782076268 CA200929628	454	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM3745878 rs587613923 CA375391641	455	G>C	liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA200929651 rs587613923	455	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs587613923 CA200929645	455	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781977102 CA200929654	456	Q>E		No	ClinGen ExAC gnomAD
rs1259817305 CA375391675	458	L>M		No	TOPMed ClinGen
rs782433445 CA375391684	459	R>C		No	ClinGen ExAC TOPMed gnomAD
rs782433445 CA200929658	459	R>G		No	ExAC TOPMed gnomAD ClinGen
CA200929663 rs782733057	459	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA200929664 rs782733057	459	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782733057 CA375391687	459	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1554789211 CA375391710	461	S>F		No	gnomAD ClinGen
CA200929665 rs782497226	462	P>L		No	ExAC TOPMed gnomAD ClinGen
CA200929682 rs958720537	463	G>D		No	Ensembl ClinGen
CA200929678 rs782279962	463	G>R		No	ExAC TOPMed gnomAD ClinGen
rs782279962 CA375391727	463	G>S		No	ClinGen ExAC TOPMed gnomAD
CA200929697 rs587768675	464	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554789224 CA375391751	465	A>T		No	ClinGen gnomAD
rs1554789230 CA375391787 CA375391786	467	F>L		No	ClinGen gnomAD
rs782339799 CA200929704	468	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA375391822 rs1554789233	470	W>*		No	ClinGen gnomAD
CA200929705 rs781992856	471	G>V		No	ClinGen ExAC gnomAD
rs1554789238 CA375391843	472	A>T		No	gnomAD ClinGen
COSM3847972	473	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375391852 rs1554789241	473	A>T		No	ClinGen gnomAD
rs1554789245 CA375391865	474	V>I		No	ClinGen gnomAD
CA200929706 rs782410985	476	H>R		No	ClinGen ExAC gnomAD
rs1554789254 CA375391886	476	H>Y		No	ClinGen gnomAD
rs1554789261 CA375391912	478	Q>E		No	ClinGen gnomAD
CA375391918 rs1362926885	478	Q>R		No	TOPMed ClinGen
rs372953477 COSM3655280	479	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs1564422576 CA375391930	479	G>R		No	Ensembl ClinGen
COSM6182643	481	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	481	A>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs867621989 CA200930222	481	A>T		No	ClinGen Ensembl
CA375392045 rs1554789491	481	A>V		No	gnomAD ClinGen
rs782405037 CA200930225	482	L>P		No	ClinGen ExAC gnomAD
CA200930235 rs781946010	483	C>Y		No	ClinGen ExAC gnomAD
CA200930240 rs28375042	484	R>K		No	ClinGen Ensembl
TCGA novel	484	R>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4910723	485	H>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554789498 CA375392065	485	H>Y		No	ClinGen gnomAD
CA200930250 rs782052182	486	M>R		No	ClinGen ExAC TOPMed gnomAD
rs147201977 CA200930255 COSM3905295	488	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic NCI-TCGA
rs782769100 CA200930251	488	R>W		No	ExAC TOPMed gnomAD ClinGen
CA200930261 rs782128293	489	A>V		No	ExAC gnomAD ClinGen
rs1048590351 CA200930264	492	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA200930266 rs377220995	493	S>R		No	ExAC TOPMed gnomAD ClinGen
CA200930275 rs782540244	495	I>M		No	ClinGen ExAC gnomAD
CA375392205 rs1588173731	495	I>T		No	Ensembl ClinGen
rs888138876 CA200930273	495	I>V		No	ClinGen TOPMed
CA200930280 rs782574335	496	M>V		No	ExAC TOPMed gnomAD ClinGen
rs781786860 CA200930289	497	K>N		No	ExAC TOPMed gnomAD ClinGen
CA200930293 rs201457594	498	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1330660 CA375392243 rs1367098860	498	R>H	ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
CA375392245 rs1367098860	498	R>L		No	TOPMed gnomAD ClinGen
rs201457594 CA375392238	498	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA200930301 rs149706655	500	D>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375392266 rs149706655	500	D>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA375392264 rs1294399362	500	D>H		No	ClinGen TOPMed
COSM3413422	500	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375392277 rs1158546169	501	S>G		No	TOPMed gnomAD ClinGen
rs782419451 CA200930302	502	F>V		No	ClinGen ExAC gnomAD
rs782200160 CA200930307	504	D>N		No	ExAC TOPMed gnomAD ClinGen
rs1171129182 CA375392361	506	T>N		No	TOPMed ClinGen
CA200930315 rs909831139	507	R>W		No	Ensembl ClinGen
CA375392391 RCV000722893 rs1564423616	508	C>R		No	Ensembl ClinGen ClinVar dbSNP
CA200930321 rs782089166	509	M>L		No	ExAC TOPMed gnomAD ClinGen
rs782089166 CA200930323	509	M>V		No	ExAC TOPMed gnomAD ClinGen
CA200930327 rs144618753	511	S>G		No	1000Genomes ESP TOPMed ClinGen
rs782392744 CA200930340	512	G>D		No	ClinGen ExAC gnomAD
rs370215524 CA200930362	514	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs374465629 CA200930364	514	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370215524 CA200930363	514	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	515	E>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1489208646 CA375392515	515	E>K		No	TOPMed gnomAD ClinGen
rs587612482 CA200930376	516	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781807478 CA200930368	516	D>G		No	ClinGen ExAC gnomAD
CA375392540 rs1554789583	516	D>H		No	gnomAD ClinGen
TCGA novel rs376459838 CA200930399	517	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs781894953 CA200930422	518	T>N		No	ClinGen ExAC TOPMed gnomAD
CA375392591 rs781894953	518	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1554789597 CA375392621	520	S>N		No	ClinGen gnomAD
CA200930443 rs782454600	524	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1588174021 CA375392725	526	S>G		No	Ensembl ClinGen
CA375392740 rs1554789605	526	S>R		No	ClinGen gnomAD
rs782343737 CA200930718	529	T>R		No	ExAC gnomAD ClinGen
rs782003053 CA200930727	534	G>D		No	ClinGen ExAC TOPMed gnomAD
rs782292367 CA200930732	536	M>R		No	ClinGen ExAC
rs1471208674 CA375393436	537	D>V		No	TOPMed ClinGen
rs1554789688 CA375393444	538	S>T		No	ClinGen gnomAD
rs1554789690 CA375393467	539	Q>*		No	gnomAD ClinGen
rs782417749 CA200930737	541	V>A		No	ExAC gnomAD ClinGen
CA200930745 rs142282539	544	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	548	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200930755 rs866493704	552	N>D		No	ClinGen Ensembl
rs782771879 CA200930762	554	T>M		No	ExAC TOPMed gnomAD ClinGen
CA375393812 rs1554789701	557	P>A		No	gnomAD ClinGen
CA200930772 rs905769016	557	P>L		No	TOPMed gnomAD ClinGen
COSM69536	557	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375393827 rs1241663407	558	R>Q		No	TOPMed gnomAD ClinGen
rs782055634 CA200930774	558	R>W		No	ExAC TOPMed gnomAD ClinGen
CA375393872 rs1554789704	560	G>V		No	ClinGen gnomAD
CA200930780 rs1003745311	561	S>F		No	ClinGen Ensembl
CA200930776 rs1000073885	561	S>P		No	TOPMed gnomAD ClinGen
CA375393875 rs1000073885	561	S>T		No	TOPMed gnomAD ClinGen
CA375393914 rs1332488616	563	T>A		No	ClinGen TOPMed
CA375393920 rs1554789727	563	T>I		No	ClinGen gnomAD
rs140628579 CA200930791	564	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554789729 CA375393936	564	A>S		No	ClinGen gnomAD
CA200930795 rs782272645	567	A>E		No	ExAC TOPMed gnomAD ClinGen
rs782272645 CA200930796 COSM5640398	567	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA375394006 rs1554789735	568	R>I		No	gnomAD ClinGen
CA200931542 rs375509487	569	E>V		No	ESP ExAC TOPMed gnomAD ClinGen
COSM753278	570	Y>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200931552 rs781840717	572	T>M		No	ClinGen ExAC gnomAD
rs782647983 CA200931566	578	P>L		No	ClinGen ExAC gnomAD
rs782647983 CA375394267	578	P>R		No	ExAC gnomAD ClinGen
rs967004764 CA200931562	578	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs782254257 CA200931567	581	T>A		No	ClinGen ExAC TOPMed gnomAD
rs782427556 CA200931568	581	T>N		No	ClinGen ExAC gnomAD
rs782254257 CA375394297	581	T>S		No	ClinGen ExAC TOPMed gnomAD
CA375394333 rs1409811787	584	Y>C		No	ClinGen TOPMed
rs372789831 CA200931603	589	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554790056 CA375394394	590	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM3905296	592	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375394435 rs1554790059	594	H>N		No	gnomAD ClinGen
rs782132022 COSM3655281	596	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
TCGA novel	597	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782036643 CA200932299	600	G>R		No	ClinGen ExAC TOPMed gnomAD
CA200932316 rs782151601	601	G>R		No	ExAC TOPMed gnomAD ClinGen
CA200932318 COSM268587 rs150234885	602	R>C	large_intestine [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs1554790334 CA375394712	602	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs867154790 CA200932331	603	Y>C		No	Ensembl ClinGen
rs781872245 CA200932358 COSM3996417	605	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA Cosmic
rs781872245 CA200932357	605	V>M		No	ClinGen ExAC TOPMed gnomAD
CA375394743 rs1554790341	608	K>E		No	ClinGen gnomAD
rs782450096 CA200932393	608	K>N		No	ExAC gnomAD ClinGen
CA375394746 rs1554790343	608	K>R		No	gnomAD ClinGen
CA375394764 rs36221217	610	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1588178101 CA375394771	611	I>T		No	Ensembl ClinGen
rs782219285 CA200932438	612	S>F		No	ExAC gnomAD ClinGen
rs1189947631 CA375394781	613	P>R		No	TOPMed ClinGen
rs1004871375 CA200932439	613	P>S		No	ClinGen Ensembl
rs1554790354 CA375394783	614	N>D		No	gnomAD ClinGen
CA375394784 rs1554790354	614	N>Y		No	ClinGen gnomAD
rs1554790356 CA375394796	616	T>A		No	ClinGen gnomAD
CA375394800 rs1242212284	616	T>I		No	TOPMed ClinGen
rs371266006 CA200932460	617	Y>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA375394805 rs1204055555	617	Y>S		No	TOPMed ClinGen
CA375394819 rs1195110686	618	P>R		No	ClinGen TOPMed
rs1340031604 CA375394829	619	S>A		No	TOPMed ClinGen
CA200932515 rs781947512	619	S>F		No	ClinGen ExAC gnomAD
rs1340031604 CA375394827	619	S>P		No	TOPMed ClinGen
rs1230775194 CA375394841	620	L>H		No	TOPMed gnomAD ClinGen
CA375394859 rs1380847239	622	E>K		No	TOPMed ClinGen
COSM1701885 rs587721043 CA200932518	625	R>C	skin [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
CA200932530 rs60398774	627	E>*		No	ExAC TOPMed gnomAD ClinGen
CA200932532 rs60398774	627	E>K		No	ExAC TOPMed gnomAD ClinGen
CA375394959 rs1554790381	629	R>G		No	gnomAD ClinGen
rs1409828890 CA375394988	631	A>S		No	TOPMed ClinGen
CA200932534 rs782761353	632	L>V		No	ExAC gnomAD ClinGen
CA200932552 rs34569244	634	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA375395077 rs1384190916	636	R>Q		No	ClinGen TOPMed gnomAD
CA200932556 rs201704847	636	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA200932557 rs782466560	638	P>L		No	ClinGen ExAC gnomAD
rs147166780 CA200932559	639	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200932567 rs138699340	639	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs782547718 CA200932571	641	E>K		No	ClinGen ExAC gnomAD
CA375395170 rs1554790414	641	E>V		No	gnomAD ClinGen
rs1554790418 CA375395174	642	E>K		No	ClinGen gnomAD
COSM1106442 rs782184721 CA200932604	644	R>H	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA375395232 rs1207380838	645	I>L		No	ClinGen TOPMed
rs1564426640 RCV000722854	647	G>missing		No	ClinVar dbSNP
rs1291152300 CA375395272	647	G>E		No	TOPMed ClinGen
CA200932620 rs1051530421	648	P>S		No	TOPMed ClinGen
TCGA novel	650	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA200932632 rs587726180	653	A>G		No	1000Genomes ExAC gnomAD ClinGen
rs587726180 CA200932631	653	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs782470631 CA200933796	657	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs150764227 CA200933808 RCV000513247	659	R>K		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
COSM1489774 rs587693885 CA200933844	660	R>W	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA200933852 rs936614568	661	Y>C		No	ClinGen Ensembl
TCGA novel	662	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782199892 CA200933860 COSM204537	663	E>K	large_intestine [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1554791049 CA375396518	666	G>V		No	ClinGen gnomAD
rs1588182081 CA375396561	669	T>P		No	Ensembl ClinGen
rs139214644 CA200933870	670	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200933871 COSM39805 rs149953167	670	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA375396637 rs281875307	673	I>V		No	gnomAD ClinGen
CA200933885 rs782028864	674	T>A		No	ExAC gnomAD ClinGen
rs782709302 CA200933897	676	T>I		No	ClinGen ExAC gnomAD
rs781784468 CA200933898	677	Y>*		No	ExAC TOPMed gnomAD ClinGen
CA375396752 rs587765025 CA200933904	678	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1554791084 CA375396769 CA375396771	679	Q>H		No	gnomAD ClinGen
CA375396806 rs1554791091	682	P>R		No	ClinGen gnomAD
COSM753276	683	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375396815 COSM1244282 rs1486626692	683	R>Q	oesophagus [Cosmic]	No	TOPMed ClinGen cosmic curated
CA200933905 rs781875492	683	R>W		No	ExAC TOPMed gnomAD ClinGen
rs370121816 CA200933906	684	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1203166838 CA375396828	684	Q>H		No	TOPMed ClinGen
rs1554791097 CA375396850	686	W>L		No	ClinGen Ensembl
CA200933909 rs984738220	686	W>R		No	ClinGen TOPMed gnomAD
rs1588182260 CA375396868	687	V>G		No	ClinGen Ensembl
rs1554791108 CA375396881	688	W>*		No	ClinGen gnomAD
rs374840594 CA200933928	690	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554791118 CA375396923	691	V>M		No	ClinGen gnomAD
CA200933934 rs782214086	692	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
COSM3655283	694	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200933938 rs201605295	696	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA200933935 rs201605295	696	S>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA200933948 rs367818172	697	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA375397013 rs1408763106	698	S>N		No	TOPMed gnomAD ClinGen
rs781785491 CA200933961	699	C>R		No	Ensembl ClinGen
rs782177142 CA200933966	701	A>T		No	ExAC gnomAD ClinGen
TCGA novel	701	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554791204 CA375397135	704	R>C		No	ClinGen gnomAD
CA200934070 rs782223605	704	R>H		No	ClinGen ExAC gnomAD
CA200934071 rs782400086	705	W>*		No	ClinGen ExAC gnomAD
CA375397186 COSM3395647 rs1554791212	707	N>K	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1008163385 CA200934072	709	S>C		No	ClinGen TOPMed gnomAD
CA200934088 rs782301837	712	D>E		No	ClinGen ExAC gnomAD
rs781993713 CA200934084	712	D>H		No	ExAC gnomAD ClinGen
CA375397275 rs1554791230	713	Q>*		No	ClinGen Ensembl
rs1554791232 CA375397345	718	L>V		No	gnomAD ClinGen
CA200934091 rs782421679	719	V>M		No	ExAC gnomAD ClinGen
rs781937174 CA200934093	722	V>L		No	ExAC gnomAD ClinGen
CA200934101 rs782354328	725	Q>E		No	ClinGen ExAC gnomAD
CA375397393 rs1554791253	725	Q>R		No	ClinGen gnomAD
rs372471786 CA200934102	726	G>E		No	ESP ExAC TOPMed ClinGen
rs1554791262 CA375397413	728	Q>*		No	gnomAD ClinGen
rs1588182765 CA375397416	728	Q>P		No	Ensembl ClinGen
CA200934103 rs782116595	731	P>S		No	ClinGen ExAC gnomAD
CA200934132 rs975207961	733	W>*		No	TOPMed ClinGen
rs1554791270 CA375397449	733	W>*		No	gnomAD ClinGen
CA200934129 rs962270995	733	W>R		No	ClinGen TOPMed gnomAD
TCGA novel	734	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782058485 CA200934136	734	P>T		No	ExAC gnomAD ClinGen
CA200934144 rs1029058000	736	A>V		No	ClinGen TOPMed
rs1179078266 CA375397478	738	V>M		No	TOPMed gnomAD ClinGen
rs587610691 CA200934164	739	L>P		No	1000Genomes ExAC gnomAD ClinGen
rs782559298 CA200934172	740	E>D		No	ClinGen ExAC TOPMed gnomAD
rs985731672 CA200934176	741	P>H		No	Ensembl ClinGen
COSM3655285	741	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200934178 rs782671915	743	P>A		No	ClinGen ExAC TOPMed gnomAD
CA200934181 rs782671915	743	P>S		No	ExAC TOPMed gnomAD ClinGen
CA375397542 rs1554791458	746	W>*		No	ClinGen gnomAD
rs367887198 CA200934676	747	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	748	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs148734700 CA200934693	752	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA200934694 rs1037674025	753	P>T		No	ClinGen TOPMed gnomAD
rs1554791473 CA375397590	754	C>R		No	gnomAD ClinGen
rs372033921 CA200934701	755	S>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA200934721 rs782719456	756	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs587639501 CA200934758	758	C>W		No	ClinGen 1000Genomes ExAC gnomAD
CA375397623 rs1373440842	759	G>A		No	TOPMed ClinGen
CA375397620 rs782640568 CA375397621	759	G>R		No	ClinGen TOPMed gnomAD
rs782640568 CA200934766	759	G>W		No	TOPMed gnomAD ClinGen
rs782729939 CA200934777	760	G>S		No	ExAC gnomAD ClinGen
CA200934791 rs782542048	761	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1554791497 CA375397634	761	G>V		No	gnomAD ClinGen
COSM3905299	762	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375397638 rs1588184657	762	L>P		No	ClinGen Ensembl
CA200934797 rs781804540	763	R>L		No	ExAC TOPMed gnomAD ClinGen
CA200934796 rs781804540	763	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA200934795 rs782807182	763	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1554791503 CA375397649	764	E>D		No	gnomAD ClinGen
rs1554791509 COSM4831296 CA375397653	765	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD
rs782614158 CA200934798	765	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	766	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782206311 CA200934803	768	R>C		No	ExAC TOPMed gnomAD ClinGen
CA200934808 rs369510827	768	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA375397685 rs1554791523	771	E>K		No	ClinGen gnomAD
TCGA novel	772	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375397697 rs1376759965	773	Q>*		No	TOPMed gnomAD ClinGen
rs1554791529 CA375397708	774	G>D		No	ClinGen gnomAD
CA375397705 rs1554791527	774	G>S		No	ClinGen gnomAD
CA375397752 rs1554791538	781	P>A		No	gnomAD ClinGen
rs782406453 CA200934839	781	P>L		No	ExAC gnomAD ClinGen
CA375397753 rs1554791538	781	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	783	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375397762 rs1554791546	783	A>T		No	ClinGen gnomAD
rs1305730208 CA375397767	783	A>V		No	TOPMed gnomAD ClinGen
rs377187626 CA200934845	784	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA200934840 rs988381398	784	R>W		No	TOPMed gnomAD ClinGen
CA375397784 rs1169474536	786	R>S		No	TOPMed ClinGen
CA375397790 rs1471750536	787	A>E		No	ClinGen TOPMed
CA375397791 rs1471750536	787	A>V		No	TOPMed ClinGen
CA375397798 rs781957737	789	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1011072654 CA200934892	794	V>L		No	ClinGen Ensembl
rs201607490 CA200934894	795	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554791566 CA375397846	797	E>K		No	ClinGen gnomAD
rs866782227 CA200934918	800	N>K		No	ClinGen gnomAD
rs965535472 CA200934941	801	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782061756 CA200934953	802	Q>K		No	ClinGen ExAC gnomAD
CA200934958 rs982011248	803	P>L		No	ClinGen TOPMed
CA200934960 rs754909071	804	C>R		No	ClinGen gnomAD
CA375397934 rs1333321716	806	A>S		No	TOPMed gnomAD ClinGen
CA200935951 rs782636321	808	W>*		No	ExAC gnomAD ClinGen
CA375398890 rs1588187835	810	V>G		No	Ensembl ClinGen
rs1564431751 CA375398872	810	V>L		No	Ensembl ClinGen
rs1554791989 CA375398924	811	S>L		No	gnomAD ClinGen
rs1011497194 CA200935953	812	E>Q		No	ClinGen TOPMed
CA200935963 rs782279427	813	P>R		No	ClinGen ExAC gnomAD
rs1353128107 CA375398972	813	P>S		No	ClinGen TOPMed
CA375399109 rs1554792006	817	T>P		No	ClinGen gnomAD
rs781915055 CA200935967	819	A>T		No	ExAC gnomAD ClinGen
CA200935975 rs372962493	819	A>V		No	ESP ExAC gnomAD ClinGen
CA200935979 rs782337019	822	A>T		No	ExAC gnomAD ClinGen
rs1554792014 CA375399372	824	L>V		No	gnomAD ClinGen
rs1554792018 CA375399438	825	A>V		No	ClinGen gnomAD
rs782110632 CA200935987	829	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs782816059 CA200935994	831	C>Y		No	ClinGen ExAC gnomAD
rs868172213 CA200936016	836	D>G		No	ClinGen Ensembl
CA375399824 rs1564431905	836	D>N		No	ClinGen Ensembl
rs1554792059 CA375399862	838	L>V		No	gnomAD ClinGen
CA200936023 rs996657321	839	E>G		No	Ensembl ClinGen
CA200936031 rs781842149	840	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM3655286	841	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375399973 rs1554792077	842	V>A		No	ClinGen gnomAD
CA375400005 rs1183240937	843	T>N		No	TOPMed ClinGen
TCGA novel	844	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200936040 rs200125026	845	G>R		No	ClinGen TOPMed
CA375400100 rs1232110896	847	G>D		No	ClinGen TOPMed
rs1199166665 CA375400126	848	S>F		No	TOPMed ClinGen
rs1260075820 CA375400143	849	V>A		No	TOPMed gnomAD ClinGen
rs782584684 CA200936061	850	D>N		No	ClinGen ExAC gnomAD
CA375400155 rs1321213895	850	D>V		No	ClinGen TOPMed gnomAD
COSM1106448	851	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201106433 CA200936070	851	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554792103 CA375400253	855	A>D		No	gnomAD ClinGen
rs1554792103 CA375400257	855	A>V		No	ClinGen gnomAD
rs1554792108 CA375400277	857	E>G		No	ClinGen gnomAD
CA200936082 rs782587447	858	P>R		No	ExAC ClinGen
rs1554792111 CA375400313	860	V>F		No	gnomAD ClinGen
CA200936096 rs782362034	861	G>E		No	ClinGen ExAC gnomAD
rs1371570379 CA375400319 COSM3213551	861	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
CA375400335 rs1564432153	862	M>V		No	Ensembl ClinGen
rs782029094 CA200936100	863	S>T		No	ExAC gnomAD ClinGen
rs782158020 CA200936105	864	C>R		No	ExAC gnomAD ClinGen
rs1554792135 CA375400403	865	P>L		No	ClinGen gnomAD
CA375400390 rs1331156571	865	P>S		No	ClinGen TOPMed
rs782335186 CA200936123	867	G>D		No	ExAC gnomAD ClinGen
CA375400493 rs1554792139	869	G>D		No	ClinGen gnomAD
CA200936128 rs781927460	869	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM1554177 COSM6182641 rs1403157372 CA375400512	870	H>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed
rs781971794 CA200936738	871	L>P		No	ClinGen ExAC gnomAD
rs782082676 CA200936743	872	D>G		No	ClinGen ExAC gnomAD
COSM6182640 CA375400787 rs1554792342	874	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA Cosmic NCI-TCGA
CA375400823 rs1425009370	876	A>S		No	TOPMed ClinGen
COSM3213554	876	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375400841 rs1554792345	876	A>V		No	gnomAD ClinGen
rs1478703745 CA375400899	879	K>R		No	TOPMed ClinGen
rs1554792354 CA375400912	880	A>S		No	gnomAD ClinGen
TCGA novel	881	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375400965 rs1192457979	883	P>T		No	ClinGen TOPMed
rs781844998 CA200936766	884	W>*		No	ClinGen ExAC gnomAD
CA375400985 rs1554792359	884	W>R		No	ClinGen gnomAD
CA200936769 rs377519637	889	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs781809081 CA375401079	890	G>A		No	ExAC TOPMed gnomAD ClinGen
CA200936781 rs781809081 COSM360564	890	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554792371 CA375401081	891	A>T		No	ClinGen gnomAD
CA375401093 rs1554792374	892	Q>*		No	gnomAD ClinGen
CA375401110 rs1311406038	893	A>P		No	TOPMed ClinGen
TCGA novel	893	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554792381 CA375401127	894	A>V		No	ClinGen gnomAD
CA375401157 rs1554792391	896	V>A		No	gnomAD ClinGen
rs147732725 CA200936789	896	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs147732725 CA200936784	896	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA375401163 rs1588189799	897	W>R		No	Ensembl ClinGen
CA200936798 rs782520598	898	T>N		No	ClinGen ExAC gnomAD
rs685523 CA200936804	900	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1276429753 CA375401206	900	A>T		No	TOPMed ClinGen
rs782223061 CA200936835	901	A>S		No	ExAC gnomAD ClinGen
rs1588189879 CA375401222	903	S>A		No	ClinGen Ensembl
rs78977446 CA375401224	903	S>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1554792422 CA375401240	906	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA375401249 rs1554792426	907	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs138742754 CA200936869	909	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	909	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200936913 rs781844824	910	R>*		No	ClinGen ExAC TOPMed gnomAD
rs758243645 CA200936923	910	R>Q		No	ClinGen ExAC gnomAD
rs781896718 CA200938986	911	G>V		No	ClinGen ExAC gnomAD
COSM1460811	915	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200938991 rs374444423	916	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA200938999 rs942284362	916	R>H		No	TOPMed gnomAD ClinGen
TCGA novel	919	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375403645 rs1554793281	919	C>Y		No	ClinGen gnomAD
CA200939005 rs201241072	920	M>V		No	ExAC gnomAD ClinGen
CA200939007 rs782189279	922	S>A		No	ExAC TOPMed gnomAD ClinGen
rs587773478 CA200939015	922	S>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA375403736 rs782189279	922	S>T		No	ClinGen ExAC TOPMed gnomAD
CA200939022 rs782263547	925	R>G		No	ExAC gnomAD ClinGen
TCGA novel	925	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554793304 CA375404062	933	C>R		No	gnomAD ClinGen
CA375404107 rs1554793309	934	G>D		No	ClinGen gnomAD
rs1223060835 CA375404100	934	G>R		No	ClinGen TOPMed
CA200939057 rs782154017	935	L>P		No	ExAC TOPMed gnomAD ClinGen
CA375404160 rs1554793319	936	A>E		No	gnomAD ClinGen
rs1554793316 CA375404159	936	A>S		No	ClinGen gnomAD
CA200939060 rs782329783	938	K>E		No	ClinGen ExAC gnomAD
CA375404250 rs1554793320	938	K>N		No	gnomAD ClinGen
CA375404260 rs1267059983	939	P>A		No	ClinGen TOPMed
COSM1460812	939	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375404295 rs1554793326	940	G>A		No	gnomAD ClinGen
CA200939077 rs919324867	942	R>Q		No	TOPMed gnomAD ClinGen
rs929435102 CA200939070	942	R>W		No	ClinGen TOPMed gnomAD
CA200939082 rs782160285	943	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM5197463	943	R>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200939086 rs782770168	945	V>D		No	ClinGen ExAC TOPMed gnomAD
rs782770168 CA200939088	945	V>G		No	ExAC TOPMed gnomAD ClinGen
CA200939094 rs782154286	946	C>G		No	ExAC gnomAD ClinGen
CA375404559 rs781805469	948	A>G		No	ClinGen ExAC TOPMed gnomAD
CA375404532 rs1554793349	948	A>T		No	ClinGen gnomAD
rs781805469 CA200939103	948	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554793356 CA375404568	949	V>I		No	ClinGen gnomAD
rs372449678 CA200939107	950	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	950	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200939153 rs143568784	952	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554793368	953	A>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
COSM487190	954	R>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375404740 rs1554793371	954	R>W		No	ClinGen gnomAD
rs1554793795 CA375405144	955	W>C		No	ClinGen gnomAD
CA375405130 rs1588198022	955	W>G		No	ClinGen Ensembl
CA200939920 rs964951648	957	Y>*		No	Ensembl ClinGen
CA200939913 rs781863577	957	Y>C		No	ExAC gnomAD ClinGen
rs368433734 CA200939951	960	A>E		No	ESP ExAC TOPMed gnomAD ClinGen
rs368433734 CA375405327	960	A>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA200939963 rs368433734	960	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA200940006 rs782453982	961	A>S		No	ClinGen ExAC gnomAD
rs1167945465 CA375405431	963	S>G		No	TOPMed gnomAD ClinGen
rs782502165 CA200940017	964	V>A		No	ExAC ClinGen
TCGA novel	967	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1163697318 CA375405662	968	R>K		No	TOPMed ClinGen
CA375405741 rs1588198151	970	V>A		No	ClinGen Ensembl
rs1554793825 CA375405733	970	V>F		No	ClinGen Ensembl
CA375405734 rs1588198151	970	V>G		No	Ensembl ClinGen
rs1554793831 CA375405765	971	V>M		No	ClinGen gnomAD
CA200940036 rs782315945	972	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1554793858 CA375405954	978	A>G		No	ClinGen gnomAD
rs1554793858 CA375405955	978	A>V		No	ClinGen gnomAD
rs142779872 COSM3358314 CA200940053	979	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA200940050 rs782220521	979	R>W		No	ClinGen ExAC gnomAD
rs782009471 CA200940057	981	H>R		No	ExAC TOPMed gnomAD ClinGen
CA200940058 rs36222275 VAR_027165	982	G>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1244426963 CA375406193	984	D>E		No	ClinGen TOPMed gnomAD
rs1263878998 CA375406155	984	D>Y		No	TOPMed ClinGen
CA375406210 rs1335736033	985	D>N		No	ClinGen TOPMed gnomAD
rs782020908 CA200940067	986	G>D		No	ClinGen ExAC gnomAD
rs1295441689 CA375406463	992	D>G		No	ClinGen TOPMed
rs1038272644 CA200940071	993	T>A		No	Ensembl ClinGen
rs139808736 CA200940073	993	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs781842320 CA200940077	994	Q>*		No	ClinGen ExAC gnomAD
rs781842320 CA375406498	994	Q>E		No	ExAC gnomAD ClinGen
rs1554793889 CA375406514	994	Q>H		No	gnomAD ClinGen
CA375406571 rs1554793891	997	G>R		No	gnomAD ClinGen
COSM3847974	997	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200940078 rs782123812	998	L>V		No	ExAC gnomAD ClinGen
rs782761491 CA200940079 COSM3655288	1000	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs781905328 CA200940082 COSM3655289	1000	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA200940086 rs782536497	1001	P>L		No	ExAC TOPMed gnomAD ClinGen
COSM1460813	1003	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375406751 rs1554793905	1003	P>T		No	gnomAD ClinGen
COSM3655290	1004	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1008	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1364275714 CA375406900	1008	S>N		No	TOPMed gnomAD ClinGen
TCGA novel	1008	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA200940105 rs886493351	1010	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA375406936 rs1554793915	1010	E>K		No	gnomAD ClinGen
CA200940107 rs781783629	1012	C>*		No	ExAC gnomAD ClinGen
rs1439617228 CA375407001	1013	P>L		No	ClinGen TOPMed
rs1554793924 CA375407016	1014	P>L		No	gnomAD ClinGen
rs1554793923 CA375407004	1014	P>T		No	gnomAD ClinGen
CA375407020 rs1265277092	1015	R>G		No	TOPMed gnomAD ClinGen
CA200943041 rs148560341	1018	V>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs781815720 CA200943039	1018	V>I		No	ExAC TOPMed gnomAD ClinGen
CA200943044 rs587735427	1019	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA200943051 rs995519105	1019	M>T		No	ClinGen TOPMed gnomAD
CA200943066 rs781908789	1021	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782586641 CA200943074 COSM1701886	1025	S>L	skin [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs782363611 CA200943086	1026	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1554795097 CA375410124	1027	S>N		No	ClinGen gnomAD
CA375410136 rs1206126622	1028	C>R		No	TOPMed ClinGen
rs782597967 CA200943090	1028	C>Y		No	ClinGen ExAC gnomAD
rs1554795101 CA375410155	1029	G>D		No	ClinGen gnomAD
CA200943091 rs950831649	1031	G>R		No	ClinGen TOPMed
CA200943092 rs987656538	1032	T>I		No	ClinGen gnomAD
rs987656538 CA375410188	1032	T>S		No	ClinGen gnomAD
rs782414383 CA200943101	1035	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA200943106 rs782016923	1035	R>H		No	ClinGen ExAC TOPMed gnomAD
rs142607772 CA200943115	1036	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA375410253 rs1460420787	1038	A>P		No	TOPMed ClinGen
CA375410269 rs1352789515	1039	C>Y		No	TOPMed ClinGen
rs1564442755 CA375410313	1042	L>F		No	ClinGen Ensembl
rs370081995 CA200943131	1043	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs370081995 CA375410322	1043	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1554795135 CA375410342	1044	Q>*		No	gnomAD ClinGen
CA200943132 rs782789479	1045	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
COSM3905301	1046	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554795141 CA375410404	1046	Q>R		No	ClinGen gnomAD
rs151138896 CA200943134	1047	D>H		No	ClinGen ESP ExAC gnomAD
CA200943145 rs782585313	1048	V>M		No	ExAC gnomAD ClinGen
rs1588206470 CA375410514	1050	V>G		No	Ensembl ClinGen
rs587681892 CA200943148	1051	D>V		No	1000Genomes ExAC gnomAD ClinGen
CA375410550 rs1588206494	1052	E>K		No	Ensembl ClinGen
CA375410587 rs373530345	1053	A>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200943152 rs781825145	1053	A>S		No	ClinGen ExAC TOPMed gnomAD
CA375410582 rs781825145	1053	A>T		No	ExAC TOPMed gnomAD ClinGen
CA200943158 COSM1460814 rs373530345	1053	A>V	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554795152 CA375410590	1054	A>T		No	gnomAD ClinGen
rs1204665809 CA375410617	1054	A>V		No	ClinGen TOPMed gnomAD
rs376017677 CA375410639	1056	A>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA200943165 rs376017677	1056	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1383187498 CA375410649	1057	A>T		No	TOPMed ClinGen
CA200943173 rs1056233134	1057	A>V		No	ClinGen TOPMed gnomAD
CA375410668 rs1554795164	1058	L>V		No	gnomAD ClinGen
rs1588206584 CA375410679	1059	V>G		No	Ensembl ClinGen
rs1554795173 CA375410702	1062	E>D		No	gnomAD ClinGen
rs782421000 CA200943212	1062	E>K		No	ClinGen ExAC gnomAD
COSM3655291	1064	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1106451	1065	V>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375410718 rs1161841108	1065	V>F		No	TOPMed gnomAD ClinGen
rs782025111 CA375410724	1066	P>A		No	ClinGen ExAC gnomAD
rs782025111 CA200943231	1066	P>T		No	ExAC gnomAD ClinGen
COSM3905302	1068	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375410767 rs782071778	1069	I>N		No	ClinGen ExAC TOPMed gnomAD
CA200943262 rs782071778	1069	I>T		No	ExAC TOPMed gnomAD ClinGen
rs782706998 COSM3905303 CA200943267	1070	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA Cosmic NCI-TCGA
rs782783025 CA200943280	1071	D>A		No	ClinGen ExAC gnomAD
rs782090479 CA200943279	1071	D>N		No	ExAC TOPMed gnomAD ClinGen
CA200943317 rs782531291	1073	T>I		No	ExAC gnomAD ClinGen
CA375410821 rs781898659	1073	T>P		No	ClinGen ExAC gnomAD
CA200943294 rs781898659	1073	T>S		No	ExAC gnomAD ClinGen
CA200943322 rs782700247	1075	R>C		No	ClinGen ExAC TOPMed gnomAD
rs138770906 CA200943328	1075	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
rs1049394626 CA200943334	1076	W>R		No	TOPMed ClinGen
rs1483712586 CA375410883	1077	H>L		No	TOPMed gnomAD ClinGen
rs1483712586 CA375410885	1077	H>R		No	TOPMed gnomAD ClinGen
rs1554795199 CA375410898	1078	V>D		No	ClinGen gnomAD
rs889725701 CA200943340	1083	E>D		No	TOPMed gnomAD ClinGen
COSM3905304	1084	C>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554795391 CA375411222	1084	C>Y		No	ClinGen gnomAD
COSM1106453	1085	S>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA375411245 rs1228700986	1085	S>P		No	TOPMed gnomAD ClinGen
rs1026843278 CA200943903	1086	V>A		No	ClinGen Ensembl
CA200943912 rs782195157	1087	S>P		No	ClinGen ExAC gnomAD
COSM1756025 rs1554795403 CA375411450	1091	G>D	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA375411503 rs1554795405	1092	I>M		No	ClinGen gnomAD
COSM3905305 CA200943919 rs781965782	1094	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
CA200943923 rs782080989	1094	R>H		No	ExAC TOPMed gnomAD ClinGen
CA200943932 rs373569027	1095	R>Q		No	ESP TOPMed gnomAD ClinGen
rs782383410 CA200943927 VAR_027135	1095	R>W	a patient with thrombotic thrombocytopenic purpura [UniProt]	No	ExAC TOPMed gnomAD ClinGen UniProt dbSNP
rs377572669 CA200943936	1096	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs61751476 CA200943951	1096	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs944652890 CA200943964	1098	T>A		No	ClinGen TOPMed gnomAD
rs1162114810 CA375411668	1098	T>I		No	ClinGen TOPMed
rs944652890 CA375411657	1098	T>P		No	ClinGen TOPMed gnomAD
COSM1460815	1100	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4543025	1101	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781809898 CA200943975	1101	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1184114889 CA375411740	1101	G>V		No	ClinGen TOPMed
CA375411746 rs1479338170	1102	P>S		No	TOPMed ClinGen
COSM3655292	1103	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200943981 rs782054636	1104	A>T		No	ClinGen ExAC
COSM3905306	1105	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782755326 CA200943992	1106	A>T		No	ClinGen ExAC gnomAD
CA200943993 rs370060687	1106	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs782630291 CA200943997	1107	P>L		No	ExAC gnomAD ClinGen
rs1554795441 CA375411906	1108	V>M		No	ClinGen Ensembl
CA200944015 rs587755238	1112	F>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA375412066 rs1554795445	1113	C>F		No	gnomAD ClinGen
CA375412174 rs782563217	1115	H>Q		No	ExAC TOPMed gnomAD ClinGen
rs1554795455 CA375412153	1115	H>R		No	ClinGen gnomAD
CA200944031 rs1044262941	1119	P>L		No	ClinGen gnomAD
COSM1460816	1119	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1122	V>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs904056711 CA200944036	1122	V>L		No	Ensembl ClinGen
CA200944051 rs782311861 COSM3432963	1123	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
rs1554795472 CA375412558	1126	W>S		No	gnomAD ClinGen
CA375412662 rs1371218222	1129	P>R		No	TOPMed ClinGen
CA200944054 rs1052109462	1129	P>S		No	TOPMed gnomAD ClinGen
CA200944072 rs782018563	1131	V>L		No	ClinGen ExAC TOPMed gnomAD
CA200944075 rs782196406	1132	G>A		No	ClinGen ExAC
CA200944089 rs895235456	1133	Q>H		No	TOPMed gnomAD ClinGen
CA200944106 rs782311486	1134	G>S		No	ClinGen ExAC TOPMed gnomAD
CA200944111 rs762112077	1135	T>M		No	ExAC TOPMed gnomAD ClinGen
rs781992360 CA200944118	1136	P>T		No	ClinGen ExAC gnomAD
CA375412932 rs1369423333	1137	S>N		No	TOPMed ClinGen
CA375412963 rs1167466918	1138	L>V		No	ClinGen TOPMed gnomAD
rs902499005 CA200944139	1139	V>M		No	ClinGen TOPMed gnomAD
rs1182333421 CA375413024	1140	P>S		No	ClinGen TOPMed
CA375413038 rs1473362275	1141	H>N		No	TOPMed ClinGen
rs587709422 CA200944153	1142	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs782670806 CA200944161	1143	E>A		No	ClinGen ExAC TOPMed gnomAD
rs782504511 CA200944158	1143	E>K		No	ExAC TOPMed gnomAD ClinGen
rs782270256 COSM1181844 CA200944167	1145	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA375413290 rs1316315678	1148	G>E		No	ClinGen TOPMed
CA200944174 rs782472825	1149	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs782226132 CA200944185	1151	T>A		No	ExAC TOPMed gnomAD ClinGen
CA200944196 rs782007879	1152	A>S		No	ExAC TOPMed gnomAD ClinGen
COSM1460818	1152	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs150853306 CA200944205	1153	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs781930177 CA200944211	1155	A>D		No	ExAC gnomAD ClinGen
rs1391857004 CA375413483	1156	G>D		No	TOPMed ClinGen
rs782044988 CA200944216	1156	G>S		No	ClinGen ExAC gnomAD
rs1554795540 CA375413628	1162	S>F		No	gnomAD ClinGen
rs139286990 CA200944233	1165	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA200944227 rs587664518 COSM1460819	1165	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA200944238 COSM4148867 rs782760544	1166	G>D	pancreas [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA375413805 rs1426612736	1168	L>H		No	TOPMed gnomAD ClinGen
rs373910725 CA375413872	1170	S>F		No	ClinGen ESP TOPMed gnomAD
CA200944248 rs1027331032	1170	S>P		No	TOPMed gnomAD ClinGen
rs373910725 CA200944249	1170	S>Y		No	ClinGen ESP TOPMed gnomAD
CA200944254 rs200122302	1171	P>L		No	ClinGen ExAC TOPMed gnomAD
rs148500446 CA200944251	1171	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200944261 rs966154002	1172	A>D		No	gnomAD ClinGen
rs1554795587 CA375413940	1172	A>P		No	gnomAD ClinGen
rs966154002 CA375413946	1172	A>V		No	gnomAD ClinGen
rs782511560 CA200944262	1173	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782689373 CA200944263	1175	P>S		No	ClinGen ExAC gnomAD
rs782621505 CA375414033	1176	R>P		No	ExAC TOPMed gnomAD ClinGen
COSM1460820 CA200944268 rs782621505	1176	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA200944265 rs782300864	1176	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs370692680 CA200944287	1177	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs782200824 CA200944280	1177	R>W		No	ExAC TOPMed gnomAD ClinGen
CA375414104 rs1554795611	1179	L>M		No	ClinGen gnomAD
rs1554795614 CA375414138	1180	P>S		No	ClinGen gnomAD
CA200944304 rs782053981	1181	G>E		No	ExAC gnomAD ClinGen
CA375414219 rs1554795621	1182	P>R		No	ClinGen gnomAD
rs781823708 CA200944310	1184	E>K		No	ClinGen ExAC gnomAD
CA375414348 rs1554795626	1185	N>I		No	ClinGen gnomAD
rs1554795630 CA375414370	1186	S>L		No	ClinGen gnomAD
CA200944317 rs782128103	1187	V>L		No	ExAC TOPMed gnomAD ClinGen
CA200944325 rs782783483	1188	Q>R		No	ExAC gnomAD ClinGen
rs1412996218 CA375414647	1190	S>N		No	TOPMed ClinGen
CA200944330 rs781911555	1190	S>R		No	ClinGen ExAC gnomAD
CA375414660 rs1554795797	1191	A>S		No	gnomAD ClinGen
COSM1106455	1192	C>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1173372326 CA375414683	1192	C>Y		No	TOPMed gnomAD ClinGen
CA375414718 rs1479241110	1193	G>D		No	ClinGen TOPMed
rs1554795810 CA375414726	1194	R>G		No	ClinGen gnomAD
CA375414749 rs1588209306	1195	Q>E		No	Ensembl ClinGen
TCGA novel	1195	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs782230828 CA200944713	1196	H>Q		No	ExAC TOPMed gnomAD ClinGen
CA375414770 rs1246548148	1196	H>Y		No	TOPMed ClinGen
rs782726688 CA375414843	1199	P>A		No	ClinGen ExAC TOPMed gnomAD
CA375414847 rs1554795817	1199	P>L		No	gnomAD ClinGen
CA200944719 rs782726688	1199	P>S		No	ExAC TOPMed gnomAD ClinGen
CA200944721 rs141056078	1200	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA200944722 rs782488785	1202	T>I		No	ExAC TOPMed gnomAD ClinGen
CA200944726 rs782488785	1202	T>N		No	ExAC TOPMed gnomAD ClinGen
CA200944734 rs1040884580	1203	I>T		No	ClinGen Ensembl
rs1554795830 CA375414983 COSM1660410	1205	M>I	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM3905307	1205	M>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200944744 rs782818582	1206	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1208	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1554795846 CA375415057	1209	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375415064 rs900975405	1210	Q>E		No	TOPMed gnomAD ClinGen
CA200944762 rs900975405	1210	Q>K		No	ClinGen TOPMed gnomAD
CA375415119 rs1554795860	1213	C>R		No	gnomAD ClinGen
rs782462227 CA200944766	1214	A>V		No	ClinGen ExAC gnomAD
CA200944792 rs200847393	1217	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
COSM1106457 CA200944824 rs782649881	1219	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
CA375415327 rs1554795886	1222	G>E		No	gnomAD ClinGen
rs866231988 CA375415321 CA200944833	1222	G>R		No	TOPMed gnomAD ClinGen
CA375415385 rs1588209483	1224	V>G		No	ClinGen Ensembl
CA200944835 rs782422811	1224	V>M		No	ClinGen ExAC gnomAD
CA375415429 rs36222894	1226	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA200944845 rs148824378 COSM1106459	1228	R>C	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA200944846 rs781945456	1228	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782033398 CA375415500	1229	V>A		No	ClinGen ExAC gnomAD
CA200944860 rs782033398	1229	V>D		No	ExAC gnomAD ClinGen
CA375415580 rs1554795904	1232	S>C		No	gnomAD ClinGen
CA375415578 rs1554795904	1232	S>G		No	gnomAD ClinGen
rs782143486 CA200944864	1232	S>N		No	ExAC gnomAD ClinGen
rs868801603 CA200944869	1233	S>F		No	ClinGen Ensembl
TCGA novel	1234	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375415681 CA375415684 rs1554795914	1235	N>K		No	ClinGen gnomAD
TCGA novel	1235	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
CA200944877 rs781787130	1237	S>G		No	ExAC TOPMed gnomAD ClinGen
CA375415758 rs587697598	1238	A>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA375415747 rs1588209576	1238	A>T		No	ClinGen Ensembl
rs782458888 CA200945287	1241	M>L		No	ClinGen ExAC gnomAD
CA200945291 rs782655118	1242	L>M		No	ExAC gnomAD ClinGen
CA375416925 rs1554796056	1244	L>I		No	gnomAD ClinGen
CA200945309 rs782546720	1245	W>C		No	ClinGen ExAC gnomAD
rs781844916 CA200945304	1245	W>R		No	ExAC TOPMed gnomAD ClinGen
CA375416967 rs1554796068	1246	G>S		No	ClinGen gnomAD
CA375416976 rs1464352675	1246	G>V		No	TOPMed ClinGen
rs782197792 COSM1106461 CA200945312	1247	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA
CA200945311 rs142489534	1247	R>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA200945334 rs777593573	1249	T>I		No	ClinGen ExAC TOPMed gnomAD
CA200945319 rs867510415	1249	T>P		No	ClinGen gnomAD
CA200945344 rs782606443	1250	W>L		No	ExAC gnomAD ClinGen
CA375417118 rs1306031923	1253	M>I		No	ClinGen TOPMed
CA375417104 rs781990284	1253	M>L		No	ExAC TOPMed gnomAD ClinGen
CA375417113 rs1554796091	1253	M>T		No	gnomAD ClinGen
CA200945360 rs781990284	1253	M>V		No	ExAC TOPMed gnomAD ClinGen
CA200945398 rs782767249	1260	M>I		No	ExAC TOPMed gnomAD ClinGen
rs782059952 CA200945392	1260	M>V		No	ExAC TOPMed ClinGen
rs781863146 CA200945420	1261	T>I		No	ClinGen ExAC gnomAD
rs1399414129 CA375417268	1261	T>S		No	ClinGen TOPMed
rs1554796113 CA375417281	1262	F>L		No	gnomAD ClinGen
CA200945428 rs140876480	1265	K>N		No	ClinGen ESP ExAC gnomAD
CA200945448 rs781882928	1268	T>M		No	ClinGen ExAC gnomAD
rs782564860 CA200945469	1271	V>A		No	ClinGen ExAC gnomAD
rs1554796125 CA375417453	1272	R>G		No	ClinGen gnomAD
CA200945476 rs371964138	1274	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs782467873 CA200945489	1274	R>H		No	ExAC gnomAD ClinGen
rs782463983 CA200945493	1275	C>*		No	ExAC gnomAD ClinGen
rs1554796129 CA375417518	1275	C>R		No	gnomAD ClinGen
CA200945492 rs782661218	1275	C>Y		No	ExAC gnomAD ClinGen
CA200945562 rs782090689	1277	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782090689 CA200945559	1277	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA200945543 rs140450669	1277	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554796142 CA375417607	1280	G>S		No	ClinGen gnomAD
rs1554796143 CA375417644	1281	G>A		No	gnomAD ClinGen
CA375417659 rs1554796146	1282	V>L		No	ClinGen gnomAD
CA200945603 rs781918148	1285	R>P		No	ClinGen ExAC gnomAD
CA200945593 rs781918148	1285	R>Q		No	ClinGen ExAC gnomAD
CA200945584 rs370157837	1285	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs782729077 CA200945618	1286	Y>D		No	ClinGen ExAC gnomAD
rs782729077 CA200945614	1286	Y>N		No	ExAC gnomAD ClinGen
CA375417734 rs1200123961	1287	G>W		No	ClinGen TOPMed
rs373393360 CA200945625	1288	S>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs1554796155 CA375417757	1289	Q>K		No	ClinGen gnomAD
CA375417813 rs1554796158	1293	E>G		No	ClinGen gnomAD
CA375417838 rs1282926872	1295	F>S		No	ClinGen TOPMed
CA200945630 rs782513398	1297	R>G		No	ClinGen ExAC gnomAD
CA200946650 rs368010021	1301	M>T		No	ESP ExAC gnomAD ClinGen
rs782386775 CA200946651	1303	L>H		No	TOPMed gnomAD ClinGen
CA200946652 rs782386775	1303	L>P		No	ClinGen TOPMed gnomAD
rs782025840 CA200946674	1311	V>M		No	ExAC TOPMed gnomAD ClinGen
COSM3655294	1319	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs907098496 CA200946709	1320	S>R		No	ClinGen Ensembl
CA200946714 rs200645384	1321	N>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA200946732 rs369447661	1322	A>T		No	ClinGen ESP
CA375418407 rs1554796616	1322	A>V		No	ClinGen gnomAD
rs781880041 CA200946737	1323	G>A		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1323	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3213583	1324	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200946741 rs768168577	1324	G>S		No	Ensembl ClinGen
CA200946764 rs782693351	1326	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA200946760 rs587618950	1326	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA200946769 rs781834668	1330	N>D		No	ClinGen ExAC gnomAD
rs782641810 CA200946775	1332	A>V		No	ExAC TOPMed ClinGen
rs782554524 CA200946783	1333	P>L		No	ExAC TOPMed gnomAD ClinGen
rs781854383 CA200946777	1333	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1281020165 CA375418641	1334	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1588212790 CA375418651	1334	H>P		No	ClinGen Ensembl
rs374154360 CA200946786	1335	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA375418685 rs281875308	1336	R>G		No	ClinGen ExAC TOPMed gnomAD
rs782213090 CA200946796	1336	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs201841682 CA200946802	1337	I>S		No	Ensembl ClinGen
rs782401854 CA200946807	1338	A>T		No	ClinGen ExAC gnomAD
COSM455547	1339	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554796650 CA375418768	1340	H>P		No	ClinGen gnomAD
rs782139077 CA200946847	1342	L>P		No	ClinGen ExAC
TCGA novel	1342	L>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs144662080 CA200946850 COSM5410638	1346	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA Cosmic
rs1554796669 CA375418884	1346	M>K		No	ClinGen gnomAD
CA200946849 rs149354083	1346	M>V		No	ClinGen ESP
rs1554796676 CA375418898	1347	G>D		No	gnomAD ClinGen
COSM3655295	1347	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3905310 rs587682066 CA200946872	1348	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA Cosmic NCI-TCGA
CA200946873 rs782097021	1348	A>V		No	ExAC gnomAD ClinGen
CA375418938 rs1554796683	1350	T>I		No	gnomAD ClinGen
rs867883117 CA200946888	1351	E>K		No	ClinGen Ensembl
CA375418939 rs867883117	1351	E>Q		No	Ensembl ClinGen
rs1395075959 CA375418958	1352	G>A		No	ClinGen TOPMed
rs781870882 CA200946905	1352	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1194784395 CA375418968	1353	A>G		No	TOPMed ClinGen
CA375418964 rs1554796691	1353	A>P		No	gnomAD ClinGen
CA200946909 rs782109481	1354	N>D		No	ExAC TOPMed gnomAD ClinGen
rs199856010 CA200946912	1355	A>T		No	1000Genomes ExAC gnomAD ClinGen
rs1588213116 CA375419012	1358	I>T		No	ClinGen Ensembl
CA375419009 rs1192048049	1358	I>V		No	ClinGen TOPMed gnomAD
COSM6182638	1360	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200947532 rs372967395	1360	I>V		No	ClinGen ESP TOPMed gnomAD
CA375419727 rs782261759	1361	R>L		No	ExAC gnomAD ClinGen
CA200947533 rs782261759	1361	R>Q		No	ExAC gnomAD ClinGen
rs1345844859 CA375419722	1361	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1554797075 CA375419821	1367	R>K		No	ClinGen gnomAD
rs1554797083 CA375419850	1369	T>A		No	ClinGen gnomAD
CA375419891 rs1554797091	1371	F>L		No	ClinGen gnomAD
CA200947573 rs201687626	1372	H>L		No	1000Genomes ExAC gnomAD ClinGen
CA200947572 rs781921050	1372	H>Y		No	ClinGen ExAC gnomAD
CA375419918 rs1554797099	1373	G>E		No	gnomAD ClinGen
CA375419943 rs1316466886	1376	V>L		No	ClinGen TOPMed gnomAD
CA200947574 rs782735074	1377	L>V		No	ClinGen ExAC gnomAD
CA200947575 rs781880610	1378	Y>S		No	ExAC TOPMed gnomAD ClinGen
COSM4924038 rs1361529166 CA375419960	1379	W>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed
rs782820940 CA200947586	1381	S>*		No	ExAC ClinGen
TCGA novel	1386	A>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs990334229 CA200947641	1386	A>T		No	gnomAD ClinGen
rs782443626 CA200947643	1389	E>D		No	ClinGen ExAC gnomAD
COSM1489775	1391	S>K	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs782604159 CA200947645	1392	E>K		No	ClinGen ExAC TOPMed gnomAD
rs587750566 CA200947664	1397	A>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA375420335 rs1191984050	1400	S>N		No	ClinGen TOPMed
COSM1132563 CA200947669 rs782297535	1402	R>Q	Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	1402	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
CA375420366 rs1488511284	1403	G>S		No	ClinGen TOPMed
CA375420378 rs1264998663	1404	Q>E		No	ClinGen TOPMed
COSM1106465	1405	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781941841 CA200947687	1406	W>*		No	ExAC TOPMed gnomAD ClinGen
rs781956159 CA200947705	1409	Q>*		No	ClinGen ExAC gnomAD
rs370267598 CA200947707	1410	S>T		No	ClinGen ESP TOPMed
COSM1460821	1412	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1554797168 CA375420449	1413	P>L		No	gnomAD ClinGen
CA200947716 rs782044465	1414	E>G		No	ClinGen ExAC gnomAD
CA375420470 rs1554797174	1416	Q>R		No	gnomAD ClinGen
CA375420477 rs1554797175	1417	D>A		No	gnomAD ClinGen
COSM3779782	1419	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1106467	1421	W>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM5410639	1423	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
CA200947752 rs782684106	1424	K>E		No	ExAC TOPMed gnomAD ClinGen
CA375420533 rs1554797194	1425	E>K		No	ClinGen gnomAD
rs781834087 CA200947763	1427	T>I		No	ClinGen ExAC gnomAD

1 associated diseases with Q76LX8

[MIM: 274150]: Thrombotic thrombocytopenic purpura, hereditary (TTP)

An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for Q76LX8

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	50 - 126	IPR004014
domain	Cation-transporting P-type ATPase, C-terminal	880 - 1058	IPR006068
ptm	P-type ATPase, phosphorylation site	475 - 481	IPR018303
domain	Plasma membrane calcium transporting P-type ATPase, C-terminal	1103 - 1149	IPR022141
domain	P-type ATPase, haloacid dehalogenase domain	455 - 847	IPR044492

Functions

		Description
EC Number	3.4.24.87	Metalloendopeptidases
Subcellular Localization	Secreted	Secretion enhanced by O-fucosylation of TSP type-1 repeats
PANTHER Family	PTHR13723	ADAMTS A DISINTEGRIN AND METALLOPROTEASE WITH THROMBOSPONDIN MOTIFS PROTEASE
PANTHER Subfamily	PTHR13723:SF20	A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN MOTIFS 13
PANTHER Protein Class	metalloprotease protease
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
endoplasmic reticulum lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
extracellular matrix	A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

5 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).
integrin binding	Binding to an integrin.
metalloendopeptidase activity	Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
metallopeptidase activity	Catalysis of the hydrolysis of peptide bonds by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding	Binding to a zinc ion (Zn).

16 GO annotations of biological process

Name	Definition
cell-matrix adhesion	The binding of a cell to the extracellular matrix via adhesion molecules.
cellular response to interleukin-4	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-4 stimulus.
cellular response to lipopolysaccharide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
cellular response to tumor necrosis factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a tumor necrosis factor stimulus.
cellular response to type II interferon	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far.
extracellular matrix organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
glycoprotein metabolic process	The chemical reactions and pathways involving glycoproteins, a protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide.
integrin-mediated signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
peptide catabolic process	The chemical reactions and pathways resulting in the breakdown of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another.
platelet activation	A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug.
protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds.
protein processing	Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
proteolysis	The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.
response to amine	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an amine stimulus. An amine is a compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.
response to potassium ion	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a potassium ion stimulus.
response to toxic substance	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q769J6	Adamts13	A disintegrin and metalloproteinase with thrombospondin motifs 13	Mus musculus (Mouse)	SS

10	20	30	40	50	60
MHQRHPRARC	PPLCVAGILA	CGFLLGCWGP	SHFQQSCLQA	LEPQAVSSYL	SPGAPLKGRP
70	80	90	100	110	120
PSPGFQRQRQ	RQRRAAGGIL	HLELLVAVGP	DVFQAHQEDT	ERYVLTNLNI	GAELLRDPSL
130	140	150	160	170	180
GAQFRVHLVK	MVILTEPEGA	PNITANLTSS	LLSVCGWSQT	INPEDDTDPG	HADLVLYITR
190	200	210	220	230	240
FDLELPDGNR	QVRGVTQLGG	ACSPTWSCLI	TEDTGFDLGV	TIAHEIGHSF	GLEHDGAPGS
250	260	270	280	290	300
GCGPSGHVMA	SDGAAPRAGL	AWSPCSRRQL	LSLLSAGRAR	CVWDPPRPQP	GSAGHPPDAQ
310	320	330	340	350	360
PGLYYSANEQ	CRVAFGPKAV	ACTFAREHLD	MCQALSCHTD	PLDQSSCSRL	LVPLLDGTEC
370	380	390	400	410	420
GVEKWCSKGR	CRSLVELTPI	AAVHGRWSSW	GPRSPCSRSC	GGGVVTRRRQ	CNNPRPAFGG
430	440	450	460	470	480
RACVGADLQA	EMCNTQACEK	TQLEFMSQQC	ARTDGQPLRS	SPGGASFYHW	GAAVPHSQGD
490	500	510	520	530	540
ALCRHMCRAI	GESFIMKRGD	SFLDGTRCMP	SGPREDGTLS	LCVSGSCRTF	GCDGRMDSQQ
550	560	570	580	590	600
VWDRCQVCGG	DNSTCSPRKG	SFTAGRAREY	VTFLTVTPNL	TSVYIANHRP	LFTHLAVRIG
610	620	630	640	650	660
GRYVVAGKMS	ISPNTTYPSL	LEDGRVEYRV	ALTEDRLPRL	EEIRIWGPLQ	EDADIQVYRR
670	680	690	700	710	720
YGEEYGNLTR	PDITFTYFQP	KPRQAWVWAA	VRGPCSVSCG	AGLRWVNYSC	LDQARKELVE
730	740	750	760	770	780
TVQCQGSQQP	PAWPEACVLE	PCPPYWAVGD	FGPCSASCGG	GLRERPVRCV	EAQGSLLKTL
790	800	810	820	830	840
PPARCRAGAQ	QPAVALETCN	PQPCPARWEV	SEPSSCTSAG	GAGLALENET	CVPGADGLEA
850	860	870	880	890	900
PVTEGPGSVD	EKLPAPEPCV	GMSCPPGWGH	LDATSAGEKA	PSPWGSIRTG	AQAAHVWTPA
910	920	930	940	950	960
AGSCSVSCGR	GLMELRFLCM	DSALRVPVQE	ELCGLASKPG	SRREVCQAVP	CPARWQYKLA
970	980	990	1000	1010	1020
ACSVSCGRGV	VRRILYCARA	HGEDDGEEIL	LDTQCQGLPR	PEPQEACSLE	PCPPRWKVMS
1030	1040	1050	1060	1070	1080
LGPCSASCGL	GTARRSVACV	QLDQGQDVEV	DEAACAALVR	PEASVPCLIA	DCTYRWHVGT
1090	1100	1110	1120	1130	1140
WMECSVSCGD	GIQRRRDTCL	GPQAQAPVPA	DFCQHLPKPV	TVRGCWAGPC	VGQGTPSLVP
1150	1160	1170	1180	1190	1200
HEEAAAPGRT	TATPAGASLE	WSQARGLLFS	PAPQPRRLLP	GPQENSVQSS	ACGRQHLEPT
1210	1220	1230	1240	1250	1260
GTIDMRGPGQ	ADCAVAIGRP	LGEVVTLRVL	ESSLNCSAGD	MLLLWGRLTW	RKMCRKLLDM
1270	1280	1290	1300	1310	1320
TFSSKTNTLV	VRQRCGRPGG	GVLLRYGSQL	APETFYRECD	MQLFGPWGEI	VSPSLSPATS
1330	1340	1350	1360	1370	1380
NAGGCRLFIN	VAPHARIAIH	ALATNMGAGT	EGANASYILI	RDTHSLRTTA	FHGQQVLYWE
1390	1400	1410	1420
SESSQAEMEF	SEGFLKAQAS	LRGQYWTLQS	WVPEMQDPQS	WKGKEGT