Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values HMCN1 83872 broad.mit.edu 37 1 185815175 185815175 + Missense_Mutation SNP A A T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr1:185815175A>T uc001grq.1 + 1 515 c.286A>T c.(286-288)Att>Ttt p.I96F NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 96 VWFA. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CCCAGTGACAATTACCACAGA 0.358 OR5D13 390142 broad.mit.edu 37 11 55541191 55541191 + Missense_Mutation SNP C C A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr11:55541191C>A uc010ril.2 + 0 278 c.278C>A c.(277-279)aCc>aAc p.T93N NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GAATACAGAACCATCTCTTTC 0.398 ABCC9 10060 broad.mit.edu 37 12 22069980 22069980 + Missense_Mutation SNP T T C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr12:22069980T>C uc001rfh.3 - 3 484 c.464A>G c.(463-465)tAc>tGc p.Y155C ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 155 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGACTGACAGTACTTAACCAA 0.388 PKP2 5318 broad.mit.edu 37 12 33030958 33030958 + Missense_Mutation SNP A A C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr12:33030958A>C uc001rlj.4 - 2 971 c.856T>G c.(856-858)Tcc>Gcc p.S286A PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A NM_004572 NP_004563 Q99959 PKP2_HUMAN Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA. 286 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GAGGACCTGGAAGCCCTGTTC 0.652 MFSD5 84975 broad.mit.edu 37 12 53647741 53647741 + Silent SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr12:53647741G>A uc001sch.2 + 1 1590 c.1443G>A c.(1441-1443)caG>caA p.Q481Q MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q NM_001170790 NP_116278 Q6N075 MFSD5_HUMAN Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA. 374 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 AGACAGAGCAGGCTGGTGTAC 0.502 GLT1D1 144423 broad.mit.edu 37 12 129360490 129360490 + Missense_Mutation SNP G G A rs146263464 byFrequency TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr12:129360490G>A uc010tbh.1 + 1 76 c.67G>A c.(67-69)Gtt>Att p.V23I GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA. 34 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GCACGTGTGCGTTTTGAAGGA 0.473 VRTN 55237 broad.mit.edu 37 14 74824348 74824348 + Missense_Mutation SNP C C T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr14:74824348C>T uc021rwl.1 + 0 862 c.862C>T c.(862-864)Cgc>Tgc p.R288C VRTN_uc001xpw.4_Missense_Mutation_p.R288C NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA. 288 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CCTCTGTGAGCGCTACAGCGT 0.647 PLA2G4E 123745 broad.mit.edu 37 15 42298316 42298316 + Missense_Mutation SNP C C T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr15:42298316C>T uc021sjp.1 - 3 397 c.397G>A c.(397-399)Gtg>Atg p.V133M NM_001206670 NP_001193599 Q3MJ16 PA24E_HUMAN Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA. 115 C2. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) AACTCTAGCACGTTCTAGGGG 0.507 DET1 55070 broad.mit.edu 37 15 89070986 89070986 + Missense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr15:89070986G>A uc002bmq.2 - 3 1337 c.1148C>T c.(1147-1149)aCg>aTg p.T383M DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron NM_017996 NP_001137546 Q7L5Y6 DET1_HUMAN Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA. 372 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) CACCTCTGTCGTCACCATATT 0.433 CACNA1H 8912 broad.mit.edu 37 16 1257299 1257299 + Missense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr16:1257299G>A uc002cks.3 + 13 3180 c.2932G>A c.(2932-2934)Gtg>Atg p.V978M CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 978 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GGACTGGAACGTGGTCCTGTA 0.632 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr16:5129756A>G uc002cym.3 + 8 950 c.909A>G c.(907-909)gaA>gaG p.E303E ALG1_uc002cyj.3_Silent_p.E192E|ALG1_uc010bue.3_Silent_p.E192E NM_019109 NP_061982 Q9BT22 ALG1_HUMAN Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA. 303 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.E303E(6) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.443 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr17:7578406C>T uc002gim.2 - 4 718 c.524G>A c.(523-525)cGc>cAc p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 175 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGGGGGCAGCGCCTCACAAC 0.652 R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) KRTAP4-7 100132476 broad.mit.edu 37 17 39240627 39240627 + Missense_Mutation SNP T T C rs139671425 by1000genomes TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr17:39240627T>C uc010wfn.2 + 0 169 c.169T>C c.(169-171)Tct>Cct p.S57P NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. p.S57P(6) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 GTGCTGCCAGTCTGTGTGCTG 0.667 ATP6V0A1 535 broad.mit.edu 37 17 40646356 40646356 + Silent SNP G G A rs142629560 TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr17:40646356G>A uc002hzs.3 + 11 1367 c.1200G>A c.(1198-1200)ccG>ccA p.P400P ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P NM_001130020 NP_001123492 Q93050 VPP1_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA. 393 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TCATAGCTCCGTATACTATTA 0.368 SRSF2 6427 broad.mit.edu 37 17 74732284 74732284 + Missense_Mutation SNP G G T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr17:74732284G>T uc002jsy.4 - 1 876 c.625C>A c.(625-627)Ccc>Acc p.P209T SRSF2_uc010wtg.2_Missense_Mutation_p.P197T|SRSF2_uc002jsv.3_Missense_Mutation_p.P209T|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank NM_001195427 NP_001182356 Q01130 SRSF2_HUMAN Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA. 209 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GACTTGGGGGGACTCTTCGAT 0.537 Mis """MDS, CLL""" STXBP2 6813 broad.mit.edu 37 19 7711219 7711219 + Missense_Mutation SNP G G C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr19:7711219G>C uc010xjr.2 + 15 1519 c.1474G>C c.(1474-1476)Gat>Cat p.D492H STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H NM_006949 NP_008880 Q15833 STXB2_HUMAN Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA. 481 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 GGTCATCAAGGATGTAATGGA 0.677 MUC16 94025 broad.mit.edu 37 19 9045842 9045842 + Missense_Mutation SNP C C G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr19:9045842C>G uc002mkp.3 - 4 35993 c.35789G>C c.(35788-35790)gGa>gCa p.G11930A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11932 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGGGGGTCCAACTGAAGT 0.493 UXS1 80146 broad.mit.edu 37 2 106761696 106761696 + Missense_Mutation SNP T T C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr2:106761696T>C uc002tdm.3 - 5 505 c.407A>G c.(406-408)gAg>gGg p.E136G UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA. 136 cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity p.E135Q(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 17 CTCGAAGTTCTCATGTCCGAT 0.512 NCKAP5 344148 broad.mit.edu 37 2 133541813 133541813 + Missense_Mutation SNP A A C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr2:133541813A>C uc002ttp.3 - 13 2945 c.2571T>G c.(2569-2571)ttT>ttG p.F857L NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 857 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ATCGTAATTCAAAGAGGGGCC 0.532 CST9 128822 broad.mit.edu 37 20 23586397 23586397 + Missense_Mutation SNP C C T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr20:23586397C>T uc002wtl.3 - 0 214 c.105G>A c.(103-105)atG>atA p.M35I NM_001008693 NP_001008693 Q5W186 CST9_HUMAN Homo sapiens cystatin 9 (testatin) (CST9), mRNA. 35 extracellular region cysteine-type endopeptidase inhibitor activity central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 12 Colorectal(13;0.0993) TATTACCACCCATTTCCTCTT 0.517 NPBWR2 2832 broad.mit.edu 37 20 62738130 62738130 + Missense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr20:62738130G>A uc011abt.2 - 0 55 c.55C>T c.(55-57)Ccc>Tcc p.P19S NM_005286 NP_005277 P48146 NPBW2_HUMAN Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA. 19 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CCCATCGTGGGGAGGGAGAAG 0.637 TM4SF19 116211 broad.mit.edu 37 3 196051173 196051173 + Missense_Mutation SNP A A G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr3:196051173A>G uc010iad.2 - 3 576 c.418T>C c.(418-420)Tat>Cat p.Y140H TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H NM_001204897 NP_001191826 Q96DZ7 T4S19_HUMAN Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA. 140 integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(5) 12 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00314) GGGTAACCATATTTCCAAGCT 0.438 UGT2B4 7363 broad.mit.edu 37 4 70359506 70359506 + Nonsense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr4:70359506G>A uc003hek.4 - 1 822 c.775C>T c.(775-777)Cga>Tga p.R259* UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259* NM_021139 NP_066962 P06133 UD2B4_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA. 259 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CAGTAGTTTCGAATAAGCCAT 0.413 STK10 6793 broad.mit.edu 37 5 171520876 171520876 + Missense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr5:171520876G>A uc003mbo.1 - 8 1394 c.1094C>T c.(1093-1095)cCg>cTg p.P365L NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 365 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGTGCCAGCGGGGTGGAAGG 0.587 RUNX2 860 broad.mit.edu 37 6 45514682 45514682 + Silent SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr6:45514682G>A uc011dvx.2 + 8 1416 c.1206G>A c.(1204-1206)ccG>ccA p.P402P RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. 402 Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTTACACCCCGCCAGTCACCT 0.577 WBSCR27 155368 broad.mit.edu 37 7 73249094 73249094 + Silent SNP C C T TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr7:73249094C>T uc003tzj.2 - 5 757 c.717G>A c.(715-717)agG>agA p.R239R NM_152559 NP_689772 Q8N6F8 WBS27_HUMAN Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA. 239 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) ACCTGGGTCGCCTTCCACTTT 0.632 CUX1 1523 broad.mit.edu 37 7 101847816 101847816 + Missense_Mutation SNP A A G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr7:101847816A>G uc003uys.4 + 18 3213 c.3086A>G c.(3085-3087)cAg>cGg p.Q1029R CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1018 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTACCCGTCCAGGGCCAGCAG 0.647 AASS 10157 broad.mit.edu 37 7 121756793 121756793 + Missense_Mutation SNP G G A TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr7:121756793G>A uc003vka.3 - 6 884 c.788C>T c.(787-789)aCg>aTg p.T263M AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron NM_005763 NP_005754 Q9UDR5 AASS_HUMAN Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA. 263 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity p.T263T(2)|p.T263M(2) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) ACTTAACACCGTCCCATACAC 0.353 GRM8 2918 broad.mit.edu 37 7 126882805 126882805 + Missense_Mutation SNP C C G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr7:126882805C>G uc003vlr.2 - 0 765 c.454G>C c.(454-456)Ggt>Cgt p.G152R GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 152 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCTGCAGCACCTATGACGCCA 0.433 HNSCC(24;0.065) PHF20L1 51105 broad.mit.edu 37 8 133829196 133829196 + Missense_Mutation SNP A A C TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chr8:133829196A>C uc003ytt.3 + 10 1572 c.1247A>C c.(1246-1248)cAg>cCg p.Q416P PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron NM_016018 NP_057102 A8MW92 P20L1_HUMAN Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA. 416 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AGAAGATCTCAGCGTTTAGCC 0.453 CXorf23 256643 broad.mit.edu 37 X 19968977 19968977 + Missense_Mutation SNP T T G TCGA-06-0189-01A-01D-1491-08 TCGA-06-0189-10A-01D-1491-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25c64c53-746c-4e92-976a-8bd947fb9c7f 3782bae7-658a-4167-9d2b-8e8cdcffc69f g.chrX:19968977T>G uc004czp.3 - 6 1639 c.1639A>C c.(1639-1641)Aaa>Caa p.K547Q CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q NM_198279 NP_938020 A2AJT9 CX023_HUMAN Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA. 547 mitochondrion endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1) 11 TCTATTATTTTGATCAGAGTC 0.363