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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut HTR3C 170572 broad.mit.edu 37 3 183777748 183777748 + Missense_Mutation SNP A A T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:183777748A>T ENST00000318351.1 + 8 1092 c.1058A>T c.(1057-1059)cAc>cTc p.H353L NM_130770.2 NP_570126.2 Q8WXA8 5HT3C_HUMAN 5-hydroxytryptamine (serotonin) receptor 3C, ionotropic 353 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2) 32 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTGCTGCTCCACTGCACCAGC 0.642000 23 50 0 0 0.091800 0 0 TEP1 7011 broad.mit.edu 37 14 20869182 20869182 + Missense_Mutation SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr14:20869182G>T ENST00000262715.5 - 9 1550 c.1510C>A c.(1510-1512)Cta>Ata p.L504I TEP1_ENST00000556935.1_Missense_Mutation_p.L396I NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 504 TROVE. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TTCCCCCGTAGGCTCAGCTCC 0.547000 51 107 2.82306e-37 4.04817e-37 0.139131 1 0 SSFA2 6744 broad.mit.edu 37 2 182783539 182783539 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:182783539A>G ENST00000431877.2 + 13 3102 c.2923A>G c.(2923-2925)Atg>Gtg p.M975V SSFA2_ENST00000428267.2_Missense_Mutation_p.M822V|SSFA2_ENST00000320370.7_Missense_Mutation_p.M975V|SSFA2_ENST00000409136.1_Missense_Mutation_p.M484V|SSFA2_ENST00000409001.1_Missense_Mutation_p.M975V NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 975 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TAGAACACAAATGATGGATTT 0.373000 3 99 0 0 0.115264 0 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 3 49 0 0 0.014758 0 0 VN1R1 57191 broad.mit.edu 37 19 57967675 57967675 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967675G>A ENST00000321039.3 - 1 179 c.180C>T c.(178-180)atC>atT p.I60I AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 60 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) AATTTCCCAGGATCCCAACTC 0.413000 14 88 0 0 0.119110 0 0 INO80 54617 broad.mit.edu 37 15 41364115 41364115 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr15:41364115T>C ENST00000361937.3 - 12 1961 c.1537A>G c.(1537-1539)Att>Gtt p.I513V INO80_ENST00000401393.3_Missense_Mutation_p.I513V Q9ULG1 INO80_HUMAN INO80 complex subunit 513 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CCATTAAAAATTGTGGGCTGT 0.448000 3 218 0 0 0.115264 0 0 HUS1 3364 broad.mit.edu 37 7 48016402 48016402 + Silent SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr7:48016402G>T ENST00000258774.5 - 4 413 c.390C>A c.(388-390)acC>acA p.T130T HUS1_ENST00000432325.1_Silent_p.T109T NM_004507.3 NP_004498.1 O60921 HUS1_HUMAN HUS1 checkpoint homolog (S. pombe) 130 DNA damage checkpoint|DNA replication Golgi apparatus|nucleolus|nucleoplasm protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1) 13 Breast(660;0.00139) GGATGTCATGGGTCACAATGC 0.408000 Direct reversal of damage;Other conserved DNA damage response genes 7 247 0.000157383 0.000209844 0.038147 1 0 CDH8 1006 broad.mit.edu 37 16 61687826 61687826 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:61687826G>C ENST00000577390.1 - 12 3040 c.2086C>G c.(2086-2088)Ccc>Gcc p.P696A CDH8_ENST00000577730.1_Missense_Mutation_p.P696A|CDH8_ENST00000299345.6_Missense_Mutation_p.P696A NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 696 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TCCTTACGGGGTAAAAATCCA 0.408000 39 188 0 0 0.080422 0 0 C7orf10 79783 broad.mit.edu 37 7 40899976 40899976 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr7:40899976G>A ENST00000309930.5 + 15 1338 c.1314G>A c.(1312-1314)ggG>ggA p.G438G C7orf10_ENST00000401647.2_Silent_p.G364G|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Silent_p.G412G NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 412 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 CGCTGCTCGGGCAGCACACAA 0.572000 11 285 0 0 0.119110 0 0 LIPE 3991 broad.mit.edu 37 19 42912459 42912459 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:42912459G>A ENST00000244289.4 - 3 1711 c.1435C>T c.(1435-1437)Cgg>Tgg p.R479W LIPE-AS1_ENST00000593491.2_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 479 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding p.R479W(1) breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGGAATGGCCGGATGGCAGGC 0.627000 4 224 0 0 0.009096 0 0 PI4KAP2 0 broad.mit.edu 37 22 21829507 21829507 + RNA SNP G G A rs140118179 by1000genomes TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr22:21829507G>A ENST00000450651.1 - 0 1831 endometrium(3)|urinary_tract(1) 4 TACTTCAAGAGCTTGATTGTC 0.542000 6 30 0 0 0.021553 0 0 ZFAND3 60685 broad.mit.edu 37 6 38029485 38029485 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr6:38029485A>G ENST00000287218.4 + 3 676 c.229A>G c.(229-231)Act>Gct p.T77A ZFAND3_ENST00000373391.2_Missense_Mutation_p.T77A NM_021943.2 NP_068762.1 Q9H8U3 ZFAN3_HUMAN zinc finger, AN1-type domain 3 77 DNA binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|ovary(1) 9 AACCACGCCAACTCTTAGTCC 0.493000 15 49 0 0 0.132662 0 0 FRYL 285527 broad.mit.edu 37 4 48591854 48591854 + Silent SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr4:48591854A>G ENST00000358350.4 - 18 2152 c.1548T>C c.(1546-1548)gaT>gaC p.D516D FRYL_ENST00000503238.1_Silent_p.D516D|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000506685.1_Silent_p.D222D|FRYL_ENST00000507711.1_Silent_p.D516D|FRYL_ENST00000537810.1_Silent_p.D516D NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 516 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TGAGGATGCTATCTAATGCTT 0.353000 4 249 0 0 0.021553 0 0 FRMPD2 143162 broad.mit.edu 37 10 49409405 49409405 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:49409405C>T ENST00000374201.3 - 15 2122 c.1820G>A c.(1819-1821)aGc>aAc p.S607N FRMPD2_ENST00000305531.3_Missense_Mutation_p.S582N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.S575N NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 607 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AGTGACACTGCTTGTGATGGT 0.453000 52 170 0 0 0.139131 0 0 RBM19 9904 broad.mit.edu 37 12 114377796 114377796 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr12:114377796C>T ENST00000545145.2 - 15 1985 c.1907G>A c.(1906-1908)cGc>cAc p.R636H RBM19_ENST00000392561.3_Missense_Mutation_p.R636H|RBM19_ENST00000261741.5_Missense_Mutation_p.R636H NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 636 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GAAGGCCTTGCGGGCCTCCAG 0.622000 5 154 0 0 0.014758 0 0 DDX3Y 8653 broad.mit.edu 37 Y 15024673 15024673 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chrY:15024673A>G ENST00000336079.3 + 5 422 c.316A>G c.(316-318)Att>Gtt p.I106V DDX3Y_ENST00000360160.4_Missense_Mutation_p.I106V NM_001122665.1|NM_004660.3 NP_001116137.1|NP_004651.2 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked 106 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1) 5 CTATGATGGTATTGGCAATCG 0.433000 4 65 0 0 0.014758 0 0 ZP4 57829 broad.mit.edu 37 1 238045749 238045749 + Silent SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr1:238045749C>T ENST00000366570.4 - 12 1754 c.1596G>A c.(1594-1596)aaG>aaA p.K532K RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 532 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTGGGCAACTCTTCTGTTTCT 0.443000 5 209 0 0 0.014758 0 0 PTPRK 5796 broad.mit.edu 37 6 128540102 128540102 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr6:128540102G>A ENST00000368227.3 - 6 1199 c.833C>T c.(832-834)tCc>tTc p.S278F PTPRK_ENST00000532331.1_Missense_Mutation_p.S278F|PTPRK_ENST00000368207.3_Missense_Mutation_p.S278F|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.S278F|PTPRK_ENST00000368210.3_Missense_Mutation_p.S278F|PTPRK_ENST00000368226.4_Missense_Mutation_p.S278F|PTPRK_ENST00000368215.3_Missense_Mutation_p.S278F Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 278 Ig-like C2-type. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GGACACACCGGAACCTCGTTC 0.398000 41 158 0 0 0.117977 0 0 EIF4G1 1981 broad.mit.edu 37 3 184040719 184040719 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:184040719A>G ENST00000342981.4 + 12 2320 c.1906A>G c.(1906-1908)Atc>Gtc p.I636V EIF4G1_ENST00000427845.1_Missense_Mutation_p.I549V|EIF4G1_ENST00000352767.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000382330.3_Missense_Mutation_p.I643V|EIF4G1_ENST00000319274.6_Missense_Mutation_p.I636V|EIF4G1_ENST00000414031.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000441154.1_Missense_Mutation_p.I472V|EIF4G1_ENST00000392537.2_Missense_Mutation_p.I549V|EIF4G1_ENST00000424196.1_Missense_Mutation_p.I643V|EIF4G1_ENST00000346169.2_Missense_Mutation_p.I636V|EIF4G1_ENST00000411531.1_Missense_Mutation_p.I596V|EIF4G1_ENST00000350481.5_Missense_Mutation_p.I472V|EIF4G1_ENST00000435046.2_Missense_Mutation_p.I440V|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.I440V NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 636 MIF4G. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATTGCCACATATCAGTGACGT 0.507000 6 285 0 0 0.021553 0 0 A2ML1 144568 broad.mit.edu 37 12 9013729 9013729 + Splice_Site SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr12:9013729A>G ENST00000299698.7 + 28 3519 c.e28-1 A2ML1_ENST00000539547.1_Splice_Site NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTCACTTTTTAGGACCCAATG 0.433000 3 193 0 0 0.009096 0 0 UMODL1 89766 broad.mit.edu 37 21 43547305 43547305 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr21:43547305G>A ENST00000400427.1 + 18 4047 c.3651G>A c.(3649-3651)ccG>ccA p.P1217P UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.P1089P|UMODL1_ENST00000408989.2_Silent_p.P1289P|UMODL1_ENST00000408910.2_Silent_p.P1161P NM_001199527.1 NP_001186456.1 Q5DID0 UROL1_HUMAN uromodulin-like 1 1161 ZP. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GGGCAACCCCGTCTAGCAACG 0.562000 5 126 0 0 0.014758 0 0 AXIN1 8312 broad.mit.edu 37 16 364573 364573 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:364573G>A ENST00000262320.3 - 3 1360 c.989C>T c.(988-990)gCa>gTa p.A330V AXIN1_ENST00000354866.3_Missense_Mutation_p.A330V|AXIN1_ENST00000481769.1_5'UTR NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 330 Interaction with TP53 (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CAGGGTGTCTGCATCGCTGGA 0.627000 14 56 0 0 0.132662 0 0 ZNF814 730051 broad.mit.edu 37 19 58385762 58385762 + Silent SNP C C G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:58385762C>G ENST00000435989.2 - 3 1230 c.996G>C c.(994-996)tcG>tcC p.S332S ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 332 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.S332S(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ATTTGCTAAACGATTTCCCAC 0.358000 3 9 0 0 0.115264 0 0 SCN1A 6323 broad.mit.edu 37 2 166894497 166894497 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:166894497A>G ENST00000423058.2 - 15 2752 c.2735T>C c.(2734-2736)tTt>tCt p.F912S SCN1A_ENST00000375405.3_Missense_Mutation_p.F901S|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F884S|SCN1A_ENST00000303395.4_Missense_Mutation_p.F912S|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 912 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GCTTTTACCAAAGAGCTGCAT 0.478000 35 117 0 0 0.069456 0 0 THYN1 29087 broad.mit.edu 37 11 134122752 134122752 + Missense_Mutation SNP C C G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:134122752C>G ENST00000341541.3 - 1 486 c.25G>C c.(25-27)Gct>Cct p.A9P THYN1_ENST00000525677.1_5'UTR|THYN1_ENST00000352327.5_Missense_Mutation_p.A9P|THYN1_ENST00000392594.3_Missense_Mutation_p.A9P|THYN1_ENST00000392595.2_Missense_Mutation_p.A9P NM_014174.2 NP_054893.1 Q9P016 THYN1_HUMAN thymocyte nuclear protein 1 9 nucleus endometrium(2)|kidney(1)|lung(3)|pancreas(1) 7 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207) GAAGTCCCAGCCAGCCTCTTC 0.512000 3 148 0 0 0.115264 0 0 DNAH5 1767 broad.mit.edu 37 5 13751210 13751210 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr5:13751210T>C ENST00000265104.4 - 65 11292 c.11188A>G c.(11188-11190)Agg>Ggg p.R3730G NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3730 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGAATGACCCTCCCCAGTAAC 0.443000 Kartagener syndrome 32 70 0 0 0.069456 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 52 0 0 0.115264 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200825160 200825160 + Missense_Mutation SNP T T G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr1:200825160T>G ENST00000358823.2 + 15 4189 c.3919T>G c.(3919-3921)Tta>Gta p.L1307V CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L1291V|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1318V NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 1318 cytoplasm|microtubule protein binding AGAAGGCTTCTTATCTCCAAG 0.388000 6 288 0 0 0.029380 0 0 VN1R1 57191 broad.mit.edu 37 19 57967712 57967712 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967712G>A ENST00000321039.3 - 1 142 c.143C>T c.(142-144)tCa>tTa p.S48L AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 48 response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GCTAATCCCTGATTTTACTTT 0.358000 17 91 0 0 0.146539 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 4 106 0 0 0.014758 0 0 CNGB3 54714 broad.mit.edu 37 8 87683262 87683262 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr8:87683262G>C ENST00000320005.5 - 4 450 c.403C>G c.(403-405)Ctg>Gtg p.L135V NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 135 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CTTTTCACCAGGTTGTGTAGC 0.473000 12 499 0 0 0.080935 0 0 FGD3 89846 broad.mit.edu 37 9 95797678 95797678 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr9:95797678C>T ENST00000375482.3 + 18 2481 c.1985C>T c.(1984-1986)cCt>cTt p.P662L FGD3_ENST00000337352.6_Missense_Mutation_p.P662L|FGD3_ENST00000416701.2_Missense_Mutation_p.P661L|FGD3_ENST00000538555.1_Missense_Mutation_p.P265L NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 662 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 GTGCCGGACCCTGAGGAGAGG 0.672000 6 13 0 0 0.047766 0 0 C10orf76 79591 broad.mit.edu 37 10 103735059 103735059 + Splice_Site SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:103735059T>C ENST00000370033.4 - 20 1526 c.e20-2 NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATGCAGCGTCTGTAACAGGGA 0.493000 19 49 0 0 0.055883 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122273473 122273473 + Silent SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:122273473C>T ENST00000398250.1 + 3 568 c.216C>T c.(214-216)atC>atT p.I72I PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Silent_p.I72I|PPAPDC1A_ENST00000369073.3_Silent_p.I62I|PPAPDC1A_ENST00000439221.1_Silent_p.I72I NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 72 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) TGAAAATTATCCGGCGAACAG 0.413000 4 184 0 0 0.014758 0 0 OR5B2 390190 broad.mit.edu 37 11 58190019 58190019 + Missense_Mutation SNP C C T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:58190019C>T ENST00000302581.2 - 1 767 c.716G>A c.(715-717)tGt>tAt p.C239Y NM_001005566.2 NP_001005566.1 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, member 2 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Esophageal squamous(5;0.0027) Breast(21;0.0778) GTGAGAGGCACAGGTGGACAA 0.438000 27 57 0 0 0.099896 0 0 SORL1 6653 broad.mit.edu 37 11 121424735 121424735 + Missense_Mutation SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:121424735G>A ENST00000260197.7 + 17 2485 c.2356G>A c.(2356-2358)Ggg>Agg p.G786R NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 786 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) GCCTCTCACCGGGCTACGGGC 0.562000 4 234 0 0 0.014758 0 0 SMIM21 284274 broad.mit.edu 37 18 73130763 73130763 + Missense_Mutation SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr18:73130763T>C ENST00000584508.1 - 2 356 c.238A>G c.(238-240)Agg>Ggg p.R80G RP11-321M21.3_ENST00000578340.1_Intron|RP11-321M21.3_ENST00000579386.1_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.R80G|SMIM21_ENST00000382638.3_Intron small integral membrane protein 21 p.R80G(1) ctgttggcccttttccagtct 0.368000 3 199 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9064376 9064376 + Silent SNP C C T rs150330701 by1000genomes TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:9064376C>T ENST00000397910.4 - 3 23273 c.23070G>A c.(23068-23070)ccG>ccA p.P7690P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7692 Ser-rich.|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 GTAAAGACAGCGGGGAGGATG 0.562000 7 55 0 0 0.047766 0 0 CCDC38 120935 broad.mit.edu 37 12 96310945 96310945 + Missense_Mutation SNP A A C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr12:96310945A>C ENST00000344280.3 - 4 823 c.266T>G c.(265-267)tTt>tGt p.F89C NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 89 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACCTGGCCCAAACTTTTCAAA 0.373000 6 94 0 0 0.029380 0 0 SPATA31D5P 0 broad.mit.edu 37 9 84530744 84530744 + RNA SNP T T C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr9:84530744T>C ENST00000527857.1 + 0 766 NR_026851.1 CCCTCTCCCCTTTTCCCACCG 0.542000 3 200 0 0 0.115264 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800585 74800585 + Silent SNP G G T TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr11:74800585G>T ENST00000305159.3 - 1 214 c.174C>A c.(172-174)ccC>ccA p.P58P NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 TGTGGAGGCTGGGCTCTGCCA 0.502000 5 87 2.0095e-06 2.72718e-06 0.029380 1 0 MRPS5 64969 broad.mit.edu 37 2 95773945 95773945 + Silent SNP G G A TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr2:95773945G>A ENST00000272418.2 - 5 820 c.612C>T c.(610-612)ggC>ggT p.G204G NM_031902.3 NP_114108.1 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 204 translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GGTCAGGGGGGCCAAGACTGA 0.488000 4 130 0 0 0.021553 0 0 NEK10 152110 broad.mit.edu 37 3 27332763 27332763 + Missense_Mutation SNP C C G TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:27332763C>G ENST00000429845.2 - 19 1957 c.1595G>C c.(1594-1596)tGt>tCt p.C532S NEK10_ENST00000341435.5_Missense_Mutation_p.C532S|NEK10_ENST00000357467.2_5'UTR Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 532 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CTTGTAAACACAGCCAAAAGC 0.383000 8 45 0 0 0.047766 0 0 VN1R1 57191 broad.mit.edu 37 19 57967438 57967438 + Missense_Mutation SNP G G C TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:57967438G>C ENST00000321039.3 - 1 416 c.417C>G c.(415-417)atC>atG p.I139M AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron NM_020633.3 NP_065684.1 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 139 I -> T (in allele VN1R1*2). response to pheromone integral to membrane|plasma membrane pheromone receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) TGAGAAGGCAGATGGTGCTGA 0.428000 24 131 0 0 0.076483 0 0 RP11-644C3.1 0 broad.mit.edu 37 3 176487523 176487528 + RNA DEL GAGGAG GAGGAG - TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr3:176487523_176487528delGAGGAG ENST00000428516.1 - 0 198 gaaagagagagaggagggagggaggg 0.485 2 4 --- --- --- --- RP11-124N3.3 0 broad.mit.edu 37 5 19004163 19004166 + RNA DEL CCTC CCTC - rs10589319 by1000genomes TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr5:19004163_19004166delCCTC ENST00000504827.1 - 0 289 ttccttccttcctccctccctccc 0.392 3 3 --- --- --- --- RP11-245J24.1 0 broad.mit.edu 37 10 120007963 120007964 + RNA INS - - GGAAGGAA rs71500885 TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr10:120007963_120007964insGGAAGGAA ENST00000436430.1 + 0 263 gggggagggagggagggaagga 0.525 4 4 --- --- --- --- TERF2IP 54386 broad.mit.edu 37 16 75690204 75690206 + In_Frame_Del DEL GAA GAA - rs140846731 TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr16:75690204_75690206delGAA ENST00000300086.4 + 3 992_994 c.895_897delGAA c.(895-897)del p.E304del NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 304 Asp/Glu-rich (acidic). negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGATgaggaggaagaagaagaag 0.424 8 123 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2341094 2341102 + RNA DEL CTCCCTGGA CTCCCTGGA - rs76166147 TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chr19:2341094_2341102delCTCCCTGGA ENST00000452401.2 + 0 1033 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACTCCCTGCCCTCCCTGGAGGCCGCCCCA 0.703 6 4 --- --- --- --- ZC3H12B 340554 broad.mit.edu 37 X 64719805 64719805 + Frame_Shift_Del DEL C C - TCGA-BJ-A0YZ-01A-11D-A10S-08 TCGA-BJ-A0YZ-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx e97e645e-024e-469f-8976-3798876197f3 9fd240bd-24f1-4679-82ba-c81437321e8d g.chrX:64719805delC ENST00000338957.4 + 4 1093 c.1026delC c.(1024-1026)agfs p.S342fs ZC3H12B_ENST00000423889.3_Frame_Shift_Del_p.S331fs NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 331 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACGGCCCAAGCCTTGAAAATT 0.443 7 176 --- --- --- ---