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 RYR3 6263 broad.mit.edu 37 15 33872315 33872315 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:33872315C>A ENST00000389232.4 + 13 1477 c.1407C>A c.(1405-1407)ctC>ctA p.L469L RYR3_ENST00000415757.3_Silent_p.L469L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 469 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCGCTCACTCAAAAACAGAC 0.443000 6 13 0.0215528 0.0228072 1 1 0 VCAN 1462 broad.mit.edu 37 5 82837386 82837386 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:82837386G>T ENST00000265077.3 + 8 9129 c.8564G>T c.(8563-8565)gGc>gTc p.G2855V VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.G1868V|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2855 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATAGACGTCGGCTCATCTGTA 0.468000 17 112 4.14922e-12 7.21603e-12 1 1 0 PCF11 51585 broad.mit.edu 37 11 82879581 82879581 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:82879581G>C ENST00000298281.4 + 8 2656 c.2204G>C c.(2203-2205)gGc>gCc p.G735A NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 735 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AGATTCGCCGGCCTGGATACA 0.448000 14 99 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63547940 63547940 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr18:63547940G>T ENST00000397968.2 + 12 2594 c.2168G>T c.(2167-2169)gGt>gTt p.G723V CDH7_ENST00000323011.3_Missense_Mutation_p.G723V NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 723 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) GTTGATCCTGGTGCTCCTCCT 0.408000 17 110 1.5739e-10 2.55918e-10 1 1 0 VPS13C 54832 broad.mit.edu 37 15 62270944 62270944 + Missense_Mutation SNP T T C rs143708476 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:62270944T>C ENST00000261517.5 - 23 2244 c.2171A>G c.(2170-2172)aAc>aGc p.N724S VPS13C_ENST00000249837.3_Missense_Mutation_p.N681S|VPS13C_ENST00000395896.4_Missense_Mutation_p.N724S|VPS13C_ENST00000395898.3_Missense_Mutation_p.N681S NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 724 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 ATCTTTACTGTTGAGCTAAAA 0.294000 8 54 0 0 1 0 0 INSC 387755 broad.mit.edu 37 11 15197518 15197518 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:15197518C>A ENST00000379554.3 + 3 475 c.429C>A c.(427-429)gcC>gcA p.A143A INSC_ENST00000528567.1_Silent_p.A96A|INSC_ENST00000424273.1_Silent_p.A96A|INSC_ENST00000530161.1_Silent_p.A96A|INSC_ENST00000379556.3_Silent_p.A96A|INSC_ENST00000525218.1_Silent_p.A96A NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 143 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 AGAAGCTGGCCCAGGACCGCT 0.647000 3 20 1 1 1 1 0 RYR2 6262 broad.mit.edu 37 1 237729883 237729883 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:237729883G>A ENST00000366574.2 + 28 3548 c.3231G>A c.(3229-3231)gtG>gtA p.V1077V RYR2_ENST00000360064.6_Silent_p.V1075V|RYR2_ENST00000542537.1_Silent_p.V1061V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1077 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGCCGAAGTGTGCAGCGGCA 0.502000 7 48 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128599832 128599832 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:128599832G>A ENST00000371122.4 - 22 2935 c.2806C>T c.(2806-2808)Ctg>Ttg p.L936L SMARCA1_ENST00000371121.3_Silent_p.L924L|SMARCA1_ENST00000371123.1_Silent_p.L924L NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 936 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TTGGCATCCAGGGCTTTCTTG 0.348000 13 186 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79932147 79932147 + Silent SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:79932147T>C ENST00000373275.4 - 41 5586 c.5370A>G c.(5368-5370)gaA>gaG p.E1790E NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1790 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CCCTGGCTTTTTCTGTCATTT 0.353000 11 69 0 0 1 0 0 ZNF841 284371 broad.mit.edu 37 19 52569093 52569093 + Missense_Mutation SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:52569093T>C ENST00000389534.4 - 7 2501 c.2042A>G c.(2041-2043)tAc>tGc p.Y681C ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.Y681C|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Missense_Mutation_p.Y565C NM_001136499.1 NP_001129971.1 Q6ZN19 ZN841_HUMAN zinc finger protein 841 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|lung(3) 11 ATTACAGTGGTAAGGGTTCTC 0.393000 6 49 0 0 1 0 0 GOLT1A 127845 broad.mit.edu 37 1 204172024 204172024 + Splice_Site SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:204172024G>A ENST00000308302.3 - 2 302 c.117_splice c.e2+1 p.N39_splice NM_198447.1 NP_940849.1 Q6ZVE7 GOT1A_HUMAN golgi transport 1A 39 protein transport|vesicle-mediated transport Golgi membrane|integral to membrane kidney(1)|lung(2)|urinary_tract(1) 4 all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244) GGAGACTCACGTTTCCAAAGG 0.498000 6 64 0 0 1 0 0 RPAP1 26015 broad.mit.edu 37 15 41814988 41814988 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:41814988T>A ENST00000304330.4 - 19 2833 c.2717A>T c.(2716-2718)cAg>cTg p.Q906L RPAP1_ENST00000561603.1_Missense_Mutation_p.Q906L NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 906 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTTGTGGATCTGGGCCAGGGT 0.612000 5 29 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209969711 209969711 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:209969711C>A ENST00000367021.3 - 4 533 c.361G>T c.(361-363)Ggc>Tgc p.G121C IRF6_ENST00000542854.1_Missense_Mutation_p.G26C NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 121 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) ATGATCGAGCCCTGGGGCTGA 0.512000 HNSCC(57;0.16) 6 47 5.9392e-07 8.13589e-07 1 1 0 PCDH11X 27328 broad.mit.edu 37 X 91132560 91132560 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:91132560G>T ENST00000373094.1 + 2 2166 c.1321G>T c.(1321-1323)Gct>Tct p.A441S PCDH11X_ENST00000373097.1_Missense_Mutation_p.A441S|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A441S|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A441S|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A441S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A441S|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A441S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A441S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A441S NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 441 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 GGCTGCAGATGCTGGCAAACC 0.408000 12 137 4.7546e-09 7.37148e-09 1 1 0 NENF 29937 broad.mit.edu 37 1 212617691 212617691 + Silent SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:212617691A>T ENST00000366988.3 + 3 306 c.249A>T c.(247-249)ggA>ggT p.G83G NENF_ENST00000473900.1_3'UTR NM_013349.4 NP_037481.1 Q9UMX5 NENF_HUMAN neudesin neurotrophic factor 83 Cytochrome b5 heme-binding. extracellular space heme binding endometrium(1)|kidney(1)|large_intestine(2) 4 all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132) AGTTTTATGGACGAGGAGCCC 0.572000 6 41 0 0 1 0 0 OR13C4 138804 broad.mit.edu 37 9 107289059 107289059 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr9:107289059C>A ENST00000277216.3 - 1 431 c.432G>T c.(430-432)ctG>ctT p.L144L NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 ATACAGAAGTCAGCAGTACAT 0.423000 13 157 4.3838e-07 6.13119e-07 1 1 0 ARAP1 116985 broad.mit.edu 37 11 72410115 72410115 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:72410115G>A ENST00000359373.5 - 18 3327 c.2476C>T c.(2476-2478)Cgg>Tgg p.R826W ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R581W|ARAP1_ENST00000426523.1_Missense_Mutation_p.R581W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R826W|ARAP1_ENST00000393605.3_Missense_Mutation_p.R586W|ARAP1_ENST00000429686.1_Missense_Mutation_p.R520W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R826W Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 826 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 AGGTACAGCCGTTCTCCCTCC 0.597000 8 130 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25775411 25775411 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr3:25775411C>A ENST00000428257.1 - 8 1265 c.1158G>T c.(1156-1158)aaG>aaT p.K386N NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.K362N|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.K404N|NGLY1_ENST00000280700.5_Missense_Mutation_p.K404N NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 404 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CTTCTTTAACCTTAGTTCTTC 0.343000 9 77 2.17888e-05 2.75807e-05 1 1 0 GRIA3 2892 broad.mit.edu 37 X 122551379 122551379 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:122551379G>T ENST00000264357.5 + 11 1919 c.1627G>T c.(1627-1629)Ggc>Tgc p.G543C GRIA3_ENST00000542149.1_Missense_Mutation_p.G543C|GRIA3_ENST00000371251.1_Missense_Mutation_p.G543C|GRIA3_ENST00000541091.1_Missense_Mutation_p.G527C|GRIA3_ENST00000371256.5_Missense_Mutation_p.G543C NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 543 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) ATCAAAACCAGGCGTATTCTC 0.423000 20 293 5.35267e-07 7.43426e-07 1 1 0 MYL10 93408 broad.mit.edu 37 7 101265410 101265410 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:101265410C>A ENST00000223167.4 - 5 597 c.420G>T c.(418-420)acG>acT p.T140T NM_138403.4 NP_612412.2 Q9BUA6 MYL10_HUMAN myosin, light chain 10, regulatory 140 mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 TCAGGAACACCGTGAAGTTGA 0.622000 9 77 0.00829132 0.00906155 1 1 0 OR8H2 390151 broad.mit.edu 37 11 55873323 55873323 + Nonsense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:55873323G>T ENST00000313503.1 + 1 805 c.805G>T c.(805-807)Gga>Tga p.G269* NM_001005200.1 NP_001005200.1 Q8N162 OR8H2_HUMAN olfactory receptor, family 8, subfamily H, member 2 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TTATTCCTTGGGAAGAGATCA 0.363000 HNSCC(53;0.14) 17 133 3.45872e-05 4.35059e-05 1 1 0 SF3B1 23451 broad.mit.edu 37 2 198266512 198266512 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:198266512C>A ENST00000335508.5 - 16 2415 c.2324G>T c.(2323-2325)cGa>cTa p.R775L NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 775 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTGGAATTCTCGAATAAGGAT 0.358000 Mis myelodysplastic syndrome 10 89 0.00621372 0.00686598 1 1 0 TRIOBP 11078 broad.mit.edu 37 22 38119239 38119239 + Missense_Mutation SNP C C T rs139454337 by1000genomes TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr22:38119239C>T ENST00000406386.3 + 7 931 c.676C>T c.(676-678)Cgg>Tgg p.R226W RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 226 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GGCAAGGCTCCGGGGAGAAAG 0.652000 4 27 0 0 1 0 0 SLC6A5 9152 broad.mit.edu 37 11 20673935 20673935 + Missense_Mutation SNP G G T rs142440636 byFrequency TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:20673935G>T ENST00000525748.1 + 15 2444 c.2171G>T c.(2170-2172)tGt>tTt p.C724F SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 724 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) ATGCTCGCCTGTTCCGTCATC 0.463000 19 130 5.03518e-11 8.46249e-11 1 1 0 DSC3 1825 broad.mit.edu 37 18 28611064 28611064 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr18:28611064C>T ENST00000434452.1 - 3 383 c.229G>A c.(229-231)Ggg>Agg p.G77R DSC3_ENST00000360428.4_Missense_Mutation_p.G77R NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 77 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) TACACTGACCCATCATTTAGA 0.413000 4 47 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108224067 108224067 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr6:108224067C>A ENST00000369002.4 - 12 1369 c.1190G>T c.(1189-1191)cGg>cTg p.R397L NM_007214.4 NP_009145.1 Q9UGP8 SEC63_HUMAN SEC63 homolog (S. cerevisiae) 397 SEC63 1. protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) ATTAGAAACCCGTCTAAGATT 0.393000 11 169 4.68919e-08 6.99879e-08 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158623173 158623173 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:158623173G>C ENST00000368148.3 - 22 3259 c.3079C>G c.(3079-3081)Cca>Gca p.P1027A SPTA1_ENST00000368147.3_Missense_Mutation_p.P1027A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1027 SH3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TAGACAGCTGGGACAATGCCC 0.552000 14 86 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36697096 36697096 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr22:36697096G>T ENST00000216181.5 - 22 2869 c.2639C>A c.(2638-2640)gCa>gAa p.A880E NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 880 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAATTTCTCTGCCATGAGCTG 0.592000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated OREG0026520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 57 7.48243e-07 1.00435e-06 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124297757 124297757 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:124297757A>T ENST00000409039.3 + 19 2862 c.2837A>T c.(2836-2838)cAg>cTg p.Q946L NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 946 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGCCCACCTCAGAAGGGGGAG 0.388000 10 57 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101559447 101559447 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:101559447A>T ENST00000360264.3 + 2 136 c.116A>T c.(115-117)gAg>gTg p.E39V CUX1_ENST00000546411.2_Missense_Mutation_p.E28V|CUX1_ENST00000425244.2_Missense_Mutation_p.E39V|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Missense_Mutation_p.E39V|CUX1_ENST00000292538.4_Missense_Mutation_p.E39V|CUX1_ENST00000556210.1_Missense_Mutation_p.E28V|CUX1_ENST00000550008.2_Missense_Mutation_p.E28V|CUX1_ENST00000292535.7_Missense_Mutation_p.E28V|CUX1_ENST00000549414.2_Missense_Mutation_p.E28V|CUX1_ENST00000547394.2_Missense_Mutation_p.E39V NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 28 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 GATGAAAGTGAGCAGTCCAGA 0.512000 15 187 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427661 25427661 + RNA SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:25427661C>A ENST00000424208.1 + 0 272 NR_003305.1 CCGAGGTCCCCAGGAGGGCCC 0.552000 10 151 1.76689e-08 2.69755e-08 1 1 0 NCSTN 23385 broad.mit.edu 37 1 160320040 160320040 + Splice_Site SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:160320040G>T ENST00000368063.1 + 6 802 c.522_splice c.e6+1 p.Q174_splice NCSTN_ENST00000392212.4_Splice_Site_p.Q174_splice|NCSTN_ENST00000294785.5_Splice_Site_p.Q194_splice|NCSTN_ENST00000535857.1_Splice_Site_p.Q194_splice|NCSTN_ENST00000368065.4_5'UTR|NCSTN_ENST00000459963.1_3'UTR Q92542 NICA_HUMAN nicastrin 194 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCATCAAGCAGGTAATGACAC 0.448000 17 144 3.32936e-07 4.68924e-07 1 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76528937 76528937 + Nonsense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr16:76528937C>A ENST00000307431.8 + 15 2593 c.2208C>A c.(2206-2208)tgC>tgA p.C736* CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.C688*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.C664*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.C740* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 737 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGTATTACTGCAATTGTGATG 0.358000 11 162 4.68919e-08 6.99879e-08 1 1 0 COL21A1 81578 broad.mit.edu 37 6 55939056 55939056 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr6:55939056C>A ENST00000244728.5 - 20 2336 c.1939G>T c.(1939-1941)Ggc>Tgc p.G647C COL21A1_ENST00000535941.1_Missense_Mutation_p.G647C|COL21A1_ENST00000370808.2_Missense_Mutation_p.G47C|COL21A1_ENST00000370819.1_Missense_Mutation_p.G644C|COL21A1_ENST00000467045.1_5'UTR NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 647 Collagen-like 3. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) CCAGGCTGGCCTGGTGAGCCA 0.323000 21 111 1.10513e-12 1.95599e-12 1 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092209 151092209 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:151092209C>A ENST00000360243.2 + 3 340 c.73C>A c.(73-75)Ctg>Atg p.L25M MAGEA4_ENST00000393921.1_Missense_Mutation_p.L25M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.L25M|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L25M|MAGEA4_ENST00000393920.1_Missense_Mutation_p.L25M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L25M|MAGEA4_ENST00000370335.1_Missense_Mutation_p.L25M NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 25 protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGCCCTGGGCCTGGTGGGTGC 0.612000 5 78 1.23904e-05 1.57839e-05 1 1 0 NLRP2 55655 broad.mit.edu 37 19 55501531 55501531 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:55501531A>T ENST00000543010.1 + 9 2651 c.2508A>T c.(2506-2508)agA>agT p.R836S NLRP2_ENST00000339757.7_Missense_Mutation_p.R814S|NLRP2_ENST00000538819.1_Missense_Mutation_p.R812S|NLRP2_ENST00000537859.1_Missense_Mutation_p.R814S|NLRP2_ENST00000448584.2_Missense_Mutation_p.R836S|NLRP2_ENST00000427260.2_Missense_Mutation_p.R813S|NLRP2_ENST00000391721.4_Missense_Mutation_p.R812S|NLRP2_ENST00000263437.6_Missense_Mutation_p.R833S NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 836 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CAACTTTGAGACACCCCAAGT 0.522000 14 80 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131688546 131688546 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:131688546C>A ENST00000409359.1 + 3 3782 c.2584C>A c.(2584-2586)Cca>Aca p.P862T ARHGEF4_ENST00000326016.5_Missense_Mutation_p.P6T|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.P6T|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.P6T|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.P6T|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.P6T Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 6 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CTGGGAAGAACCAGCAGGTGA 0.572000 6 51 0.00116845 0.00132778 1 1 0 OR4S2 219431 broad.mit.edu 37 11 55418856 55418856 + Silent SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:55418856T>A ENST00000312422.2 + 1 477 c.477T>A c.(475-477)gcT>gcA p.A159A NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TCCAAGTGGCTCTGGTAGTCC 0.433000 54 304 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190237 101190237 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:101190237G>T ENST00000294728.2 + 4 820 c.719G>T c.(718-720)gGc>gTc p.G240V VCAM1_ENST00000370115.1_Missense_Mutation_p.G240V|VCAM1_ENST00000347652.2_Missense_Mutation_p.G240V|VCAM1_ENST00000370119.4_Missense_Mutation_p.G178V NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 240 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CAAGAAGGTGGCTCTGTGACC 0.413000 9 88 3.09899e-07 4.39572e-07 1 1 0 TMEM176A 55365 broad.mit.edu 37 7 150500761 150500761 + Silent SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:150500761C>T ENST00000484928.1 + 5 977 c.396C>T c.(394-396)gcC>gcT p.A132A TMEM176A_ENST00000004103.3_Silent_p.A132A|TMEM176A_ENST00000461345.1_Silent_p.A73A Q96HP8 T176A_HUMAN transmembrane protein 176A 132 integral to membrane breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1) 12 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCATCGCTGCCCTCAAACTTT 0.537000 17 94 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 22 3.09899e-07 4.39572e-07 1 1 0 MUC16 94025 broad.mit.edu 37 19 9058318 9058318 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:9058318G>T ENST00000397910.4 - 3 29331 c.29128C>A c.(29128-29130)Cct>Act p.P9710T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9712 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 AGACTTTCAGGACCCCTGCTC 0.488000 11 44 3.86212e-05 4.76805e-05 1 1 0 IGFN1 91156 broad.mit.edu 37 1 201186487 201186487 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:201186487C>A ENST00000335211.4 + 17 9798 c.9668C>A c.(9667-9669)gCa>gAa p.A3223E IGFN1_ENST00000295591.8_Missense_Mutation_p.A383E NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 ACATGGACAGCACCTCGGGGC 0.652000 7 96 1.06961e-07 1.56148e-07 1 1 0 ROBO4 54538 broad.mit.edu 37 11 124765390 124765390 + Silent SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:124765390A>T ENST00000306534.3 - 6 1484 c.999T>A c.(997-999)ccT>ccA p.P333P ROBO4_ENST00000533054.1_Silent_p.P188P NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 333 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CGTTGCTGTCAGGGCCTCGAG 0.612000 8 89 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863370 6863370 + Nonsense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:6863370G>T ENST00000307659.5 + 7 1716 c.1261G>T c.(1261-1263)Gag>Tag p.E421* KIAA0232_ENST00000425103.1_Nonsense_Mutation_p.E421* NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 421 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AAGTAAACTAGAGACCACATA 0.418000 9 71 1.12685e-05 1.454e-05 1 1 0 GALNT14 79623 broad.mit.edu 37 2 31135133 31135133 + Missense_Mutation SNP C C T rs149431826 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:31135133C>T ENST00000349752.5 - 14 2095 c.1456G>A c.(1456-1458)Gcc>Acc p.A486T GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Missense_Mutation_p.A451T|GALNT14_ENST00000406653.1_Missense_Mutation_p.A466T|GALNT14_ENST00000356174.3_Missense_Mutation_p.A453T|GALNT14_ENST00000324589.5_Missense_Mutation_p.A491T NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 486 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.A486T(1) cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) ACCACTGGGGCGCCAGGGAAC 0.557000 9 82 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401495 77401495 + Silent SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr16:77401495T>A ENST00000282849.5 - 4 1039 c.621A>T c.(619-621)gcA>gcT p.A207A ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 207 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCTTCTCCTCTGCTGTCCTTT 0.547000 10 73 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158639307 158639307 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:158639307C>A ENST00000368148.3 - 14 1904 c.1724G>T c.(1723-1725)cGt>cTt p.R575L SPTA1_ENST00000368147.3_Missense_Mutation_p.R575L NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 575 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R575H(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAATCTACGTCTAGTGGC 0.443000 22 275 2.89027e-11 4.89876e-11 1 1 0 TIAM1 7074 broad.mit.edu 37 21 32492919 32492919 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr21:32492919C>A ENST00000286827.3 - 29 5014 c.4543G>T c.(4543-4545)Gtg>Ttg p.V1515L TIAM1_ENST00000541036.1_Missense_Mutation_p.V1455L NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1515 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCACCCTTCACGGACTCACAG 0.552000 9 57 2.74318e-10 4.31997e-10 1 1 0 OR6K3 391114 broad.mit.edu 37 1 158687040 158687040 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:158687040T>A ENST00000368146.1 - 1 913 c.914A>T c.(913-915)tAt>tTt p.Y305F OR6K3_ENST00000368145.1_Missense_Mutation_p.Y289F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TCTCAGGCTATAAATGATGGG 0.418000 25 161 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902447 247902447 + Silent SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:247902447C>T ENST00000283225.2 + 1 531 c.531C>T c.(529-531)tgC>tgT p.C177C RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 AGTTCTTCTGCGATGTCCCTG 0.453000 23 217 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160035560 160035560 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:160035560C>T ENST00000263635.6 + 14 2633 c.2396C>T c.(2395-2397)tCc>tTc p.S799F TANC1_ENST00000454300.1_Missense_Mutation_p.S693F NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 799 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 GACGCCCTCTCCTGCTTCCTC 0.562000 22 163 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21608721 21608721 + Nonsense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:21608721C>A ENST00000425654.2 + 13 2030 c.1550C>A c.(1549-1551)tCa>tAa p.S517* CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Nonsense_Mutation_p.S547*|CNKSR2_ENST00000543067.1_Nonsense_Mutation_p.S498*|CNKSR2_ENST00000379510.3_Nonsense_Mutation_p.S547* NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 547 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CAGCACAAATCAAAGAAGAAA 0.398000 5 42 0.184627 0.186492 1 1 0 EIF4G3 8672 broad.mit.edu 37 1 21268711 21268711 + Silent SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:21268711T>A ENST00000602326.1 - 12 1369 c.786A>T c.(784-786)atA>atT p.I262I EIF4G3_ENST00000374927.4_Silent_p.I256I|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.I262I|EIF4G3_ENST00000536266.1_5'UTR|EIF4G3_ENST00000400422.1_Silent_p.I256I|EIF4G3_ENST00000356916.3_Silent_p.I267I|EIF4G3_ENST00000264211.8_Silent_p.I256I NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 256 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTATGGATACTATTGCAGTAG 0.483000 13 124 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155215151 155215151 + Missense_Mutation SNP C C A rs149981533 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr3:155215151C>A ENST00000460012.1 - 15 2119 c.1762G>T c.(1762-1764)Gtg>Ttg p.V588L PLCH1_ENST00000414191.1_Missense_Mutation_p.V588L|PLCH1_ENST00000494598.1_Missense_Mutation_p.V606L|PLCH1_ENST00000340059.7_Missense_Mutation_p.V606L|PLCH1_ENST00000447496.2_Missense_Mutation_p.V606L|PLCH1_ENST00000334686.6_Missense_Mutation_p.V588L Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 606 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTGTGTACACAACCAAATCA 0.453000 9 88 4.68919e-08 6.99879e-08 1 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232650439 232650439 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:232650439C>A ENST00000366630.1 - 2 1005 c.647G>T c.(646-648)cGa>cTa p.R216L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R216L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 216 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATTTTCTACTCGGTACCCTCT 0.498000 26 172 7.07758e-08 1.04082e-07 1 1 0 MUC16 94025 broad.mit.edu 37 19 9045880 9045880 + Silent SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:9045880G>T ENST00000397910.4 - 5 35954 c.35751C>A c.(35749-35751)tcC>tcA p.S11917S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11919 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 CTGTGTTCCAGGAGGTCACAG 0.498000 9 110 0.000442599 0.00051766 1 1 0 ACOX3 8310 broad.mit.edu 37 4 8398716 8398716 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:8398716T>A ENST00000356406.5 - 9 1081 c.1004A>T c.(1003-1005)cAg>cTg p.Q335L ACOX3_ENST00000503233.1_Missense_Mutation_p.Q335L|ACOX3_ENST00000413009.2_Missense_Mutation_p.Q335L NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 335 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GGGTCCAAACTGACGCCGAGT 0.537000 10 66 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37407157 37407157 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr22:37407157C>T ENST00000403892.3 - 2 1539 c.805G>A c.(805-807)Gtg>Atg p.V269M TST_ENST00000249042.3_Missense_Mutation_p.V269M NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 269 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 TACACGGCCACATCAGGCTTG 0.647000 8 77 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125864182 125864182 + Nonsense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:125864182C>A ENST00000392693.3 - 14 2774 c.2647G>T c.(2647-2649)Gaa>Taa p.E883* CDON_ENST00000263577.7_Nonsense_Mutation_p.E883*|CDON_ENST00000531738.1_Nonsense_Mutation_p.E260* NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 883 Fibronectin type-III 3. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GACTTACCTTCTACAACATCC 0.388000 8 44 0.00307968 0.00347986 1 1 0 OR2G6 391211 broad.mit.edu 37 1 248685229 248685229 + Nonsense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:248685229C>A ENST00000343414.4 + 1 314 c.282C>A c.(280-282)taC>taA p.Y94* NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y94Y(1) NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCATGAGCTACGGTGGCTGTG 0.532000 10 127 0.000673444 0.00076965 1 1 0 ADCK1 57143 broad.mit.edu 37 14 78374163 78374163 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr14:78374163G>T ENST00000238561.5 + 7 858 c.759G>T c.(757-759)tgG>tgT p.W253C ADCK1_ENST00000341211.5_Missense_Mutation_p.W185C NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 260 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) GAATCCACTGGGACCTGTCCA 0.577000 5 35 0.184627 0.186492 1 1 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 4 41 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133041305 133041305 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:133041305G>T ENST00000253861.4 + 6 1014 c.985G>T c.(985-987)Gtt>Ttt p.V329F EXOC4_ENST00000393161.2_Missense_Mutation_p.V329F|EXOC4_ENST00000539845.1_Missense_Mutation_p.V228F NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 329 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GGGGGAGAACGTTACTGTGGA 0.463000 4 54 0.00909568 0.0097803 1 1 0 GALNT7 51809 broad.mit.edu 37 4 174169303 174169303 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:174169303G>T ENST00000265000.4 + 2 382 c.299G>T c.(298-300)gGa>gTa p.G100V GALNT7_ENST00000512285.1_Missense_Mutation_p.G100V NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 100 protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CACCATGCTGGAGGAGATTCC 0.458000 9 56 3.09899e-07 4.39572e-07 1 1 0 ZNF566 84924 broad.mit.edu 37 19 36967454 36967454 + Silent SNP A A G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:36967454A>G ENST00000454319.1 - 2 140 c.6T>C c.(4-6)gcT>gcC p.A2A ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000424129.2_Silent_p.A2A|ZNF566_ENST00000434377.2_Silent_p.A2A|ZNF566_ENST00000392170.2_Silent_p.A2A NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) ATCTCACCTGAGCCATGGCTC 0.398000 9 55 0 0 1 0 0 CA5BP1 340591 broad.mit.edu 37 X 15706830 15706830 + RNA SNP C C A rs4060 by1000genomes TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:15706830C>A ENST00000380334.2 + 0 74 GGGGCGATCGCCAGTCACCCA 0.532000 4 59 0.00909568 0.0097803 1 1 0 HECTD4 283450 broad.mit.edu 37 12 112688129 112688129 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:112688129T>A ENST00000550722.1 - 25 3726 c.3331A>T c.(3331-3333)Agc>Tgc p.S1111C HECTD4_ENST00000377560.5_Missense_Mutation_p.S1085C|HECTD4_ENST00000430131.2_Missense_Mutation_p.S835C NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGAGAGGGGCTCGGAGTAAGG 0.547000 12 87 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112824042 112824042 + Missense_Mutation SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:112824042T>C ENST00000408903.3 - 1 485 c.70A>G c.(70-72)Agc>Ggc p.S24G NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 552 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgctgctgccgctgccg 0.731000 3 12 0 0 1 0 0 MSL3 10943 broad.mit.edu 37 X 11778537 11778537 + Silent SNP A A G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:11778537A>G ENST00000337339.2 + 3 228 c.201A>G c.(199-201)gcA>gcG p.A67A MSL3_ENST00000312196.4_Silent_p.A67A|MSL3_ENST00000398527.2_Silent_p.A55A|MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000361672.2_5'UTR NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 67 Chromo. histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 ATAGATGGGCAGCAGAAGATC 0.378000 8 113 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459708 107459708 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:107459708C>A ENST00000409382.3 - 2 1336 c.726G>T c.(724-726)cgG>cgT p.R242R ST6GAL2_ENST00000409087.3_Silent_p.R242R|ST6GAL2_ENST00000361686.4_Silent_p.R242R NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 242 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 GCCCGGCCTCCCGCTTCCCGC 0.682000 3 13 6.4e-05 7.75758e-05 1 1 0 PRLR 5618 broad.mit.edu 37 5 35070364 35070364 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:35070364G>T ENST00000382002.5 - 7 973 c.547C>A c.(547-549)Cat>Aat p.H183N PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000348262.3_Missense_Mutation_p.H183N|PRLR_ENST00000397391.3_Missense_Mutation_p.H112N|PRLR_ENST00000310101.5_Missense_Mutation_p.H183N|PRLR_ENST00000513753.1_Missense_Mutation_p.H183N|PRLR_ENST00000542609.1_Missense_Mutation_p.H183N|PRLR_ENST00000342362.5_Missense_Mutation_p.H82N|PRLR_ENST00000511486.1_Missense_Mutation_p.H82N|PRLR_ENST00000231423.3_Missense_Mutation_p.H183N NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 183 Fibronectin type-III 2. activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CCAGCAAAATGGATCTAAGGT 0.398000 9 75 0.000673444 0.00076965 1 1 0 SIM1 6492 broad.mit.edu 37 6 100841683 100841683 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr6:100841683G>T ENST00000369208.3 - 11 2032 c.1250C>A c.(1249-1251)cCg>cAg p.P417Q SIM1_ENST00000262901.4_Missense_Mutation_p.P417Q P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 417 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CAGAAGCTGCGGAGAGGCCGT 0.587000 6 46 1.6384e-10 2.60063e-10 1 1 0 AQR 9716 broad.mit.edu 37 15 35192938 35192938 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:35192938C>A ENST00000156471.5 - 20 2353 c.2128G>T c.(2128-2130)Gcc>Tcc p.A710S NM_014691.2 NP_055506.1 O60306 AQR_HUMAN aquarius intron-binding spliceosomal factor 710 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) TCAAGGGTGGCAATCTGATTG 0.413000 8 126 1.26484e-09 1.97632e-09 1 1 0 OSM 5008 broad.mit.edu 37 22 30661059 30661059 + Missense_Mutation SNP C C A rs140074040 by1000genomes TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr22:30661059C>A ENST00000215781.2 - 2 149 c.109G>T c.(109-111)Gtg>Ttg p.V37L OSM_ENST00000403463.1_Intron|OSM_ENST00000403389.1_Missense_Mutation_p.V16L NM_020530.4 NP_065391.1 P13725 ONCM_HUMAN oncostatin M 37 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3) 11 Epithelial(10;0.206) CCAAGGAGCACGCGGTACTCT 0.582000 18 175 5.01169e-05 6.14932e-05 1 1 0 TESK1 7016 broad.mit.edu 37 9 35609227 35609227 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr9:35609227C>T ENST00000336395.5 + 10 1619 c.1369C>T c.(1369-1371)Cct>Tct p.P457S TESK1_ENST00000498522.1_3'UTR NM_006285.2 NP_006276.2 Q15569 TESK1_HUMAN testis-specific kinase 1 457 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 27 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) AGGTCCTGGCCCTCCCGCTGT 0.706000 6 86 0 0 1 0 0 DEFB118 117285 broad.mit.edu 37 20 29956509 29956509 + Missense_Mutation SNP C C G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr20:29956509C>G ENST00000253381.2 + 1 89 c.56C>G c.(55-57)cCa>cGa p.P19R NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 19 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CAAGTGATCCCAGGTAATCAG 0.498000 7 65 0 0 1 0 0 RASGRP4 115727 broad.mit.edu 37 19 38911777 38911777 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:38911777C>A ENST00000454404.2 - 3 485 c.272G>T c.(271-273)tGg>tTg p.W91L RASGRP4_ENST00000587753.1_Missense_Mutation_p.W91L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.W91L|RASGRP4_ENST00000426920.2_Missense_Mutation_p.W91L|RASGRP4_ENST00000293062.9_Missense_Mutation_p.W91L|RASGRP4_ENST00000433821.2_Missense_Mutation_p.W91L|RASGRP4_ENST00000586305.1_Missense_Mutation_p.W91L NM_001146205.1|NM_170604.2 NP_001139677.1|NP_733749.1 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 91 N-terminal Ras-GEF. activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1) 23 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CGGCAGCACCCAGCTGTGCAT 0.622000 11 72 3.07112e-06 4.04094e-06 1 1 0 TBC1D12 23232 broad.mit.edu 37 10 96271394 96271394 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr10:96271394A>T ENST00000225235.4 + 9 1854 c.1744A>T c.(1744-1746)Agg>Tgg p.R582W TBC1D12_ENST00000485048.1_3'UTR NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 582 Rab-GAP TBC. intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CACATGCTACAGGCCTGATGT 0.323000 27 181 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798280 55798280 + Missense_Mutation SNP C C G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:55798280C>G ENST00000313555.1 + 1 386 c.386C>G c.(385-387)cCa>cGa p.P129R NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ATCTGCAACCCACTGCTCTAT 0.473000 7 107 0 0 1 0 0 TRIM3 10612 broad.mit.edu 37 11 6472274 6472274 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:6472274C>T ENST00000525074.1 - 9 2112 c.1718G>A c.(1717-1719)gGc>gAc p.G573D TRIM3_ENST00000537602.1_Missense_Mutation_p.G495D|TRIM3_ENST00000536344.1_Missense_Mutation_p.G454D|TRIM3_ENST00000359518.3_Missense_Mutation_p.G573D|TRIM3_ENST00000345851.3_Missense_Mutation_p.G573D NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 573 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATGAGGCGGCCAGCTCCAAT 0.517000 7 44 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37482000 37482000 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr10:37482000G>T ENST00000374660.1 + 32 2809 c.2710G>T c.(2710-2712)Gat>Tat p.D904Y ANKRD30A_ENST00000361713.1_Missense_Mutation_p.D785Y|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.D785Y|ANKRD30A_ENST00000475522.1_3'UTR Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 960 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGAGTCTCCTGATAATGATGG 0.294000 20 138 3.99206e-14 7.25829e-14 1 1 0 GABARAPL1 23710 broad.mit.edu 37 12 10373180 10373180 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:10373180A>T ENST00000421801.2 + 3 605 c.311A>T c.(310-312)tAc>tTc p.Y104F GABARAPL1_ENST00000544284.1_Intron|GABARAPL1_ENST00000546017.1_Intron|GABARAPL1_ENST00000266458.5_Intron|GABARAPL1_ENST00000545887.1_Intron|GABARAPL1_ENST00000545047.1_3'UTR|GABARAPL1_ENST00000543602.1_Missense_Mutation_p.Y104F|GABARAPL1_ENST00000539170.1_Intron|GABARAPL1_ENST00000535576.1_Intron Q9H0R8 GBRL1_HUMAN GABA(A) receptor-associated protein like 1 0 autophagic vacuole|endoplasmic reticulum|Golgi apparatus|membrane|microtubule beta-tubulin binding|GABA receptor binding NS(1)|lung(1) 2 GTTGCACAATACTGGATGCCG 0.493000 13 35 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92498130 92498130 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:92498130C>A ENST00000298047.6 + 5 4087 c.4070C>A c.(4069-4071)cCt>cAt p.P1357H FAT3_ENST00000525166.1_Missense_Mutation_p.P1207H|FAT3_ENST00000409404.2_Missense_Mutation_p.P1357H|RP11-203F8.1_ENST00000529884.1_RNA Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1357 Cadherin 12. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCCCTTCACCTATACCATTG 0.493000 TCGA Ovarian(4;0.039) 5 71 0.000602214 0.000696202 1 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29973778 29973778 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:29973778C>A ENST00000378993.1 + 11 2605 c.1932C>A c.(1930-1932)ggC>ggA p.G644G IL1RAPL1_ENST00000302196.4_Silent_p.G644G NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 644 Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 CCTCCATAGGCAATCAGCATA 0.507000 5 35 0.000602214 0.000696202 1 1 0 MSL3 10943 broad.mit.edu 37 X 11778536 11778536 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:11778536C>A ENST00000337339.2 + 3 227 c.200C>A c.(199-201)gCa>gAa p.A67E MSL3_ENST00000312196.4_Missense_Mutation_p.A67E|MSL3_ENST00000398527.2_Missense_Mutation_p.A55E|MSL3_ENST00000380693.3_5'UTR|MSL3_ENST00000361672.2_5'UTR NM_078628.1 NP_523352.1 Q8N5Y2 MS3L1_HUMAN male-specific lethal 3 homolog (Drosophila) 67 Chromo. histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter MSL complex DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1) 19 GATAGATGGGCAGCAGAAGAT 0.373000 8 113 0.0381472 0.0399447 1 1 0 ZNF154 7710 broad.mit.edu 37 19 58214095 58214095 + Silent SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:58214095G>T ENST00000512439.2 - 3 418 c.222C>A c.(220-222)gcC>gcA p.A74A AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.A74A Q13106 ZN154_HUMAN zinc finger protein 154 74 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(3) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCACAAACAAGGCTCTGCCCA 0.478000 10 72 7.48243e-07 1.00435e-06 1 1 0 ZNF546 339327 broad.mit.edu 37 19 40520078 40520078 + Missense_Mutation SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:40520078T>C ENST00000347077.4 + 7 1117 c.901T>C c.(901-903)Tac>Cac p.Y301H ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.Y275H NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TGTGAAACCCTACGAGTGTAA 0.418000 12 142 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990864 47990864 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr20:47990864G>C ENST00000371741.4 - 2 1399 c.1233C>G c.(1231-1233)atC>atG p.I411M NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 411 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TATTGACGATGATGGGGATGG 0.507000 10 82 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906478 144906478 + Silent SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:144906478G>C ENST00000370490.1 + 1 6790 c.2535G>C c.(2533-2535)ctG>ctC p.L845L SLITRK2_ENST00000434188.2_Silent_p.L845L|SLITRK2_ENST00000413937.2_Silent_p.L845L|SLITRK2_ENST00000428560.2_Silent_p.L845L|SLITRK2_ENST00000447897.2_Silent_p.L845L Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 845 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCAGTCAGCTGTGAAGGGAAA 0.453000 5 66 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43282228 43282228 + Splice_Site SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:43282228G>A ENST00000290650.4 - 34 3926 c.3848_splice c.e34+1 p.S1283_splice UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1283 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AGATACTTACGAAGACTCAAC 0.323000 3 17 0 0 1 0 0 KCND2 3751 broad.mit.edu 37 7 119915013 119915013 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:119915013C>A ENST00000331113.4 + 1 1292 c.327C>A c.(325-327)caC>caA p.H109Q NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 109 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding p.H109H(2) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) ATCCTCGCCACGAGTGCATCT 0.527000 25 188 7.92952e-12 1.36716e-11 1 1 0 TLR2 7097 broad.mit.edu 37 4 154624528 154624528 + Nonsense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:154624528G>T ENST00000260010.6 + 1 1877 c.469G>T c.(469-471)Gga>Tga p.G157* NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 157 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CCTGAGAGTGGGAAATATGGA 0.368000 8 100 5.18039e-06 6.77175e-06 1 1 0 CIDEB 27141 broad.mit.edu 37 14 24774918 24774918 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr14:24774918A>T ENST00000336557.5 - 8 1883 c.581T>A c.(580-582)cTg>cAg p.L194Q NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Missense_Mutation_p.L194Q|CIDEB_ENST00000556756.1_Missense_Mutation_p.L3Q|CIDEB_ENST00000258807.5_Missense_Mutation_p.L194Q Q9UHD4 CIDEB_HUMAN cell death-inducing DFFA-like effector b 194 apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis cytosol NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(265;0.0181) GGAAATTCCCAGCAACATATG 0.567000 5 63 0 0 1 0 0 GLP2R 9340 broad.mit.edu 37 17 9757867 9757867 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:9757867C>A ENST00000262441.5 + 5 1073 c.560C>A c.(559-561)tCc>tAc p.S187Y GLP2R_ENST00000574745.1_Missense_Mutation_p.S7Y NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 187 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GTGGGATACTCCTTCTCTCTT 0.522000 25 319 1.64293e-13 2.96024e-13 1 1 0 GRIA3 2892 broad.mit.edu 37 X 122551380 122551380 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:122551380G>T ENST00000264357.5 + 11 1920 c.1628G>T c.(1627-1629)gGc>gTc p.G543V GRIA3_ENST00000542149.1_Missense_Mutation_p.G543V|GRIA3_ENST00000371251.1_Missense_Mutation_p.G543V|GRIA3_ENST00000541091.1_Missense_Mutation_p.G527V|GRIA3_ENST00000371256.5_Missense_Mutation_p.G543V NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 543 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) TCAAAACCAGGCGTATTCTCA 0.423000 20 291 4.96729e-08 7.35895e-08 1 1 0 OR6K3 391114 broad.mit.edu 37 1 158687666 158687666 + Missense_Mutation SNP C C G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:158687666C>G ENST00000368146.1 - 1 287 c.288G>C c.(286-288)aaG>aaC p.K96N OR6K3_ENST00000368145.1_Missense_Mutation_p.K80N Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TGGAGAGCATCTTGGGAATGG 0.453000 29 236 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1207118 1207118 + Nonsense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:1207118C>A ENST00000326873.7 + 1 1379 c.206C>A c.(205-207)tCg>tAg p.S69* STK11_ENST00000585748.1_Intron NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 69 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(3)|p.S69*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCTGGACTCGGAGACGCTG 0.597000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 3 24 0.115264 0.120067 1 1 0 BTK 695 broad.mit.edu 37 X 100612562 100612562 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:100612562G>A ENST00000308731.7 - 13 1275 c.1112C>T c.(1111-1113)tCc>tTc p.S371F BTK_ENST00000372880.1_Intron NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 371 SH2. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTTGAGCCTGGATATGAGTCC 0.507000 Agammaglobulinemia, X-linked 18 85 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77264618 77264618 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:77264618C>A ENST00000341514.6 + 7 1882 c.1727C>A c.(1726-1728)gCc>gAc p.A576D ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.A576D NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 576 HMA 6. ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 ATGACGTGTGCCTCCTGCGTA 0.388000 24 358 2.70639e-06 3.58463e-06 1 1 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 14 0.150653 0.154516 1 1 0 TMPRSS4 56649 broad.mit.edu 37 11 117979592 117979592 + Silent SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:117979592G>T ENST00000534111.1 + 7 823 c.558G>T c.(556-558)ctG>ctT p.L186L TMPRSS4_ENST00000437212.3_Silent_p.L188L|TMPRSS4_ENST00000522307.1_Silent_p.L41L|TMPRSS4_ENST00000523251.1_Silent_p.L148L|TMPRSS4_ENST00000522824.1_Silent_p.L183L NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 188 SRCR. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) CAGGCTCCCTGGTCTCCCTGC 0.577000 11 76 3.86212e-05 4.76805e-05 1 1 0 FLOT2 2319 broad.mit.edu 37 17 27209210 27209210 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:27209210C>T ENST00000394906.2 - 9 867 c.790G>A c.(790-792)Gac>Aac p.D264N FLOT2_ENST00000585169.1_Missense_Mutation_p.D209N|FLOT2_ENST00000394908.4_Missense_Mutation_p.D209N|FLOT2_ENST00000577789.1_5'UTR Q14254 FLOT2_HUMAN flotillin 2 209 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) ATCTTGGTGTCTGCCATGAAC 0.527000 8 105 0 0 1 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74914361 74914361 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr11:74914361C>A ENST00000289575.5 + 13 2233 c.1838C>A c.(1837-1839)cCc>cAc p.P613H SLCO2B1_ENST00000341411.4_Missense_Mutation_p.P386H|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.P386H|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.P469H|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.P591H|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.P497H NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 613 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity p.P613L(1) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) GCCTGGATGCCCAGCCCCGTG 0.637000 16 68 1.02788e-11 1.75707e-11 1 1 0 PIGR 5284 broad.mit.edu 37 1 207106505 207106505 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:207106505C>A ENST00000356495.4 - 7 1895 c.1712G>T c.(1711-1713)cGc>cTc p.R571L NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 571 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTGACATCGCGGGACCCTGC 0.537000 6 55 5.9392e-07 8.13589e-07 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189068468 189068468 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:189068468C>A ENST00000332517.3 + 6 1489 c.1349C>A c.(1348-1350)cCa>cAa p.P450Q TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 450 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCCTGCCTCCCAAATGAGGGG 0.572000 8 109 0.000157383 0.000187361 1 1 0 DNAJB8 165721 broad.mit.edu 37 3 128181655 128181655 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr3:128181655A>T ENST00000469083.1 - 2 2991 c.434T>A c.(433-435)aTg>aAg p.M145K DNAJB8_ENST00000319153.3_Missense_Mutation_p.M145K Q8NHS0 DNJB8_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 8 145 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) GAAGGCCTCCATGAAGGCCGG 0.622000 6 44 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61234132 61234132 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr18:61234132A>T ENST00000382768.1 + 7 1166 c.1166A>T c.(1165-1167)gAa>gTa p.E389V SERPINB12_ENST00000269491.1_Missense_Mutation_p.E369V Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 369 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 GTTGTCTCGGAAAGGTCACTA 0.453000 12 81 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559037 140559037 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:140559037C>A ENST00000239444.2 + 1 1667 c.1422C>A c.(1420-1422)gtC>gtA p.V474V NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 474 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGGCAGCGTCAGCGCCACAG 0.657000 36 383 1.67305e-13 2.98758e-13 1 1 0 CNTNAP2 26047 broad.mit.edu 37 7 146997278 146997278 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:146997278C>A ENST00000361727.3 + 9 1910 c.1394C>A c.(1393-1395)gCc>gAc p.A465D NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 465 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCTTCCTAGCCAAGGAAAAT 0.403000 HNSCC(39;0.1) 18 118 1.56452e-12 2.74478e-12 1 1 0 GPR50 9248 broad.mit.edu 37 X 150349475 150349475 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:150349475C>A ENST00000218316.3 + 2 1489 c.1420C>A c.(1420-1422)Ccc>Acc p.P474T NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 474 Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGCAACCCCAAGCCCAT 0.552000 30 409 1.12875e-08 1.73654e-08 1 1 0 PRG4 10216 broad.mit.edu 37 1 186269344 186269344 + Splice_Site SNP G G T rs61729243 byFrequency TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:186269344G>T ENST00000445192.2 + 3 243 c.199_splice c.e3+1 p.A66_splice PRG4_ENST00000367486.3_Splice_Site_p.A66_splice|PRG4_ENST00000367485.4_Splice_Site_p.A66_splice|PRG4_ENST00000367483.4_Intron|PRG4_ENST00000367484.3_Intron NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 66 SMB 1.|SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TCTGCACTGCGGGTAAGTCCT 0.547000 12 130 1.61879e-10 2.60063e-10 1 1 0 USP26 83844 broad.mit.edu 37 X 132159646 132159646 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:132159646G>C ENST00000511190.1 - 6 3072 c.2603C>G c.(2602-2604)gCc>gGc p.A868G USP26_ENST00000406273.1_Missense_Mutation_p.A868G|USP26_ENST00000370832.1_Missense_Mutation_p.A868G NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 868 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTGCATCTGGGCCTCCTGGAT 0.433000 7 127 0 0 1 0 0 CEP128 145508 broad.mit.edu 37 14 81296585 81296585 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr14:81296585C>A ENST00000216517.6 - 14 1529 c.1252G>T c.(1252-1254)Gat>Tat p.D418Y CEP128_ENST00000555265.1_Intron|CEP128_ENST00000281129.3_Intron Q6ZU80 CE128_HUMAN centrosomal protein 128kDa 818 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCTTTACAATCCAAATCTTGA 0.289000 3 6 1 1 1 1 0 CDH6 1004 broad.mit.edu 37 5 31322957 31322957 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:31322957C>A ENST00000265071.2 + 12 2180 c.1915C>A c.(1915-1917)Cag>Aag p.Q639K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 639 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TCTGAGGCGGCAGCGAAAAAA 0.453000 14 75 1.5739e-10 2.55918e-10 1 1 0 TM9SF4 9777 broad.mit.edu 37 20 30753155 30753155 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr20:30753155G>A ENST00000217315.5 + 18 2126 c.1786G>A c.(1786-1788)Gtc>Atc p.V596I TM9SF4_ENST00000398022.2_Missense_Mutation_p.V613I Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 613 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGCCCTCATGGTCTTGTCCTT 0.527000 16 110 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85341199 85341199 + Silent SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:85341199C>T ENST00000299927.3 + 3 2521 c.2499C>T c.(2497-2499)ccC>ccT p.P833P ZNF592_ENST00000560079.2_Silent_p.P833P Q92610 ZN592_HUMAN zinc finger protein 592 833 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CATTCTGCCCCATGGCCTTCA 0.612000 10 55 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19216559 19216559 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:19216559C>T ENST00000314728.5 + 7 1598 c.1114C>T c.(1114-1116)Cct>Tct p.P372S EPN2_ENST00000395618.3_Missense_Mutation_p.P87S|EPN2_ENST00000395620.2_Missense_Mutation_p.P315S|EPN2_ENST00000347697.2_Missense_Mutation_p.P315S|EPN2_ENST00000575595.1_Missense_Mutation_p.P80S|EPN2_ENST00000571254.1_Missense_Mutation_p.P308S|EPN2_ENST00000395626.1_Missense_Mutation_p.P372S NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 372 6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) GCCAGCGGCTCCTGCGAGTAC 0.662000 7 67 0 0 1 0 0 FKBP15 23307 broad.mit.edu 37 9 115935780 115935780 + Missense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr9:115935780C>T ENST00000238256.3 - 23 2602 c.2485G>A c.(2485-2487)Gca>Aca p.A829T NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 829 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TCTCTCTGTGCGCACACCTCC 0.488000 6 62 0 0 1 0 0 LIM2 3982 broad.mit.edu 37 19 51890567 51890567 + Missense_Mutation SNP C C G rs142234866 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:51890567C>G ENST00000221973.3 - 2 173 c.131G>C c.(130-132)cGg>cCg p.R44P LIM2_ENST00000596399.1_Missense_Mutation_p.R44P NM_030657.3 NP_085915.2 P55344 LMIP_HUMAN lens intrinsic membrane protein 2, 19kDa 44 cell-cell junction assembly cell junction|integral to membrane structural constituent of eye lens endometrium(1)|large_intestine(3)|lung(2)|skin(1) 7 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985) CAGGCAGTACCGCCACAGGCC 0.672000 16 85 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91784760 91784760 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:91784760G>A ENST00000370425.3 - 25 2785 c.2687C>T c.(2686-2688)tCa>tTa p.S896L HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.S575L|HFM1_ENST00000294696.5_Missense_Mutation_p.S128L NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 896 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TACAAAATCTGACAACCCTAA 0.284000 7 50 0 0 1 0 0 LRRC8B 23507 broad.mit.edu 37 1 90048428 90048428 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:90048428G>A ENST00000330947.2 + 5 579 c.219G>A c.(217-219)ctG>ctA p.L73L LRRC8B_ENST00000439853.1_Silent_p.L73L|LRRC8B_ENST00000358200.4_Silent_p.L73L NM_001134476.1 NP_001127948.1 Q6P9F7 LRC8B_HUMAN leucine rich repeat containing 8 family, member B 73 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 26 all_lung(203;0.17) all cancers(265;0.00515)|Epithelial(280;0.0241) GGGACATCCTGAAAGCCAGCA 0.542000 8 110 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187742 121187742 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:121187742C>A ENST00000321339.1 + 1 93 c.84C>A c.(82-84)ctC>ctA p.L28L NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 28 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCTTCGCGCTCCCGCTGCGTT 0.751000 3 22 0.004672 0.00519111 1 1 0 GPR158 57512 broad.mit.edu 37 10 25885645 25885645 + Missense_Mutation SNP G G A rs140090961 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr10:25885645G>A ENST00000376351.3 + 10 2431 c.2072G>A c.(2071-2073)cGa>cAa p.R691Q GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 691 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GACATGGGCCGATCTGGATCC 0.448000 10 54 0 0 1 0 0 KLHL3 26249 broad.mit.edu 37 5 137028039 137028039 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:137028039C>A ENST00000508657.1 - 5 1079 c.365G>T c.(364-366)gGc>gTc p.G122V KLHL3_ENST00000541417.1_Missense_Mutation_p.A36S|KLHL3_ENST00000309755.4_Missense_Mutation_p.G154V|KLHL3_ENST00000394937.3_Missense_Mutation_p.G154V|KLHL3_ENST00000506491.1_Missense_Mutation_p.G72V NM_001257194.1 NP_001244123.1 Q9UH77 KLHL3_HUMAN kelch-like family member 3 154 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) TGCACGGATGCCCAGGCAATT 0.597000 4 29 1.23904e-05 1.57839e-05 1 1 0 MAGEE1 57692 broad.mit.edu 37 X 75650066 75650066 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:75650066G>C ENST00000361470.2 + 1 2021 c.1743G>C c.(1741-1743)atG>atC p.M581I NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 581 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GGCCAAAGATGGGCCTCCTGA 0.512000 5 30 0 0 1 0 0 TRPV6 55503 broad.mit.edu 37 7 142572678 142572678 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:142572678C>A ENST00000359396.3 - 10 1510 c.1265G>T c.(1264-1266)gGg>gTg p.G422V NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 422 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAATGGGCCCCCAAGGATGGT 0.532000 10 111 5.16669e-11 8.61114e-11 1 1 0 NTNG1 22854 broad.mit.edu 37 1 107867473 107867473 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:107867473G>A ENST00000370067.1 + 3 1443 c.816G>A c.(814-816)ggG>ggA p.G272G NTNG1_ENST00000370071.2_Silent_p.G272G|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370068.1_Silent_p.G272G|NTNG1_ENST00000370072.3_Silent_p.G272G|NTNG1_ENST00000370070.2_Silent_p.G272G|NTNG1_ENST00000370073.2_Silent_p.G272G|NTNG1_ENST00000370074.4_Silent_p.G272G|NTNG1_ENST00000542803.1_Silent_p.G272G|NTNG1_ENST00000370061.3_Silent_p.G272G|NTNG1_ENST00000370065.1_Silent_p.G272G|NTNG1_ENST00000370066.1_Silent_p.G272G Q9Y2I2 NTNG1_HUMAN netrin G1 272 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CAGCCGTTGGGGAAATATTTG 0.453000 11 58 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331895 107331895 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr9:107331895G>T ENST00000335040.1 + 1 447 c.447G>T c.(445-447)tgG>tgT p.W149C NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CTGGGTCCTGGGTCACTGGGC 0.502000 9 75 0.000442599 0.00051766 1 1 0 CPD 1362 broad.mit.edu 37 17 28788988 28788988 + Missense_Mutation SNP A A G TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:28788988A>G ENST00000225719.4 + 19 3800 c.3724A>G c.(3724-3726)Aca>Gca p.T1242A CPD_ENST00000543464.2_Missense_Mutation_p.T995A NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1242 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AAAGGTACAAACAAAAGAGGG 0.393000 13 83 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125920674 125920674 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr9:125920674G>C ENST00000447404.2 - 9 1174 c.870C>G c.(868-870)gaC>gaG p.D290E STRBP_ENST00000348403.5_Missense_Mutation_p.D290E|STRBP_ENST00000360998.3_Missense_Mutation_p.D276E Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 290 DZF. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CATCTGTTGGGTCTCGCTCAC 0.413000 7 70 0 0 1 0 0 GNL3L 54552 broad.mit.edu 37 X 54584913 54584913 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:54584913G>C ENST00000336470.4 + 15 1630 c.1491G>C c.(1489-1491)caG>caC p.Q497H GNL3L_ENST00000360845.2_Missense_Mutation_p.Q497H NM_019067.5 NP_061940.1 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 (nucleolar)-like 497 ribosome biogenesis nucleolus GTP binding NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 30 ACCGTCATCAGATGGGGTGGG 0.522000 14 87 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89602477 89602477 + Splice_Site SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:89602477G>T ENST00000402738.1 + 21 2746 c.e21+1 HERC3_ENST00000264345.3_Splice_Site|HERC3_ENST00000543130.1_Splice_Site NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CTGAAGGAAGGTACAAAGCTA 0.433000 17 69 1.45105e-14 2.66248e-14 1 1 0 OR6K3 391114 broad.mit.edu 37 1 158687044 158687044 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:158687044T>A ENST00000368146.1 - 1 909 c.910A>T c.(910-912)Att>Ttt p.I304F OR6K3_ENST00000368145.1_Missense_Mutation_p.I288F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) AGGCTATAAATGATGGGATTG 0.413000 27 165 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142242938 142242938 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr3:142242938G>T ENST00000350721.4 - 22 4170 c.4049C>A c.(4048-4050)gCt>gAt p.A1350D ATR_ENST00000383101.3_Missense_Mutation_p.A1286D NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1350 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 GAGCAACCGAGCTTGAGAGTT 0.408000 Other conserved DNA damage response genes 10 103 1.08611e-07 1.57407e-07 1 1 0 WDR83OS 51398 broad.mit.edu 37 19 12779979 12779979 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:12779979A>T ENST00000596731.1 - 2 2071 c.119T>A c.(118-120)cTg>cAg p.L40Q CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.L38Q|WDR83OS_ENST00000222190.5_Missense_Mutation_p.L40Q|WDR83_ENST00000418543.3_Intron NM_016145.3 NP_057229.1 Q9Y284 CS056_HUMAN WD repeat domain 83 opposite strand 40 integral to membrane GATCATGCCCAGCAGGTTCAT 0.632000 4 56 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101436172 101436172 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:101436172G>T ENST00000392979.3 + 11 1336 c.975G>T c.(973-975)atG>atT p.M325I ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.M360I NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 360 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ACACCGGCATGCTCTTCCCAG 0.493000 HNSCC(74;0.22) 9 65 0.00448238 0.00503638 1 1 0 RAB41 347517 broad.mit.edu 37 X 69502667 69502667 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:69502667G>C ENST00000374473.2 + 3 245 c.199G>C c.(199-201)Gac>Cac p.D67H RAB41_ENST00000276066.4_Missense_Mutation_p.D66H Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 67 protein transport|small GTPase mediated signal transduction GTP binding breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 TGTTGGAATTGACTTCTTGTC 0.433000 7 116 0 0 1 0 0 MIR519A2 574500 broad.mit.edu 37 19 54265622 54265622 + RNA SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:54265622G>A ENST00000384990.1 + 0 25 NR_030222.1 CCTCTACAGGGAAGCGCTTTC 0.408000 24 162 0 0 1 0 0 METTL21B 25895 broad.mit.edu 37 12 58174040 58174040 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:58174040G>T ENST00000333012.5 + 4 478 c.431G>T c.(430-432)gGg>gTg p.G144V RP11-571M6.15_ENST00000553083.1_Intron|METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000548256.1_Missense_Mutation_p.G102V|RP11-571M6.15_ENST00000471530.1_Intron|METTL21B_ENST00000300209.8_Missense_Mutation_p.G98W NM_206914.1 NP_996797.1 Q96AZ1 MT21B_HUMAN methyltransferase like 21B 0 integral to membrane|intracellular methyltransferase activity endometrium(1)|lung(1) 2 TCTCTCAGGGGGGGATGTTAC 0.587000 6 34 1.6384e-10 2.60063e-10 1 1 0 NAV1 89796 broad.mit.edu 37 1 201759701 201759701 + Missense_Mutation SNP C C A rs142843126 byFrequency TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:201759701C>A ENST00000367296.4 + 12 3659 c.3239C>A c.(3238-3240)tCt>tAt p.S1080Y IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.S1080Y|NAV1_ENST00000367295.1_Missense_Mutation_p.S689Y|NAV1_ENST00000367302.1_Missense_Mutation_p.S1036Y|NAV1_ENST00000469130.1_Intron|NAV1_ENST00000367300.3_Missense_Mutation_p.S1023Y|NAV1_ENST00000367297.4_Intron NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 1080 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AGGATGCAATCTGAGGTAGGG 0.458000 6 92 3.59834e-05 4.49792e-05 1 1 0 ABCC4 10257 broad.mit.edu 37 13 95847155 95847155 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr13:95847155G>A ENST00000376887.4 - 9 1312 c.1198C>T c.(1198-1200)Cgt>Tgt p.R400C ABCC4_ENST00000431522.1_Missense_Mutation_p.R400C|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325C|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400C NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 400 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GGCAGCTGACGGTTGCGCTGT 0.378000 8 32 0 0 1 0 0 KCNF1 3754 broad.mit.edu 37 2 11053626 11053626 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:11053626C>A ENST00000295082.1 + 1 1564 c.1074C>A c.(1072-1074)ccC>ccA p.P358P NM_002236.4 NP_002227.2 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, member 1 358 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) AGAGCATCCCCCAGTCCTTCT 0.592000 5 57 0.184627 0.186492 1 1 0 CCL1 6346 broad.mit.edu 37 17 32688895 32688895 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:32688895A>T ENST00000225842.3 - 2 166 c.97T>A c.(97-99)Tgt>Agt p.C33S NM_002981.1 NP_002972.1 P22362 CCL1_HUMAN chemokine (C-C motif) ligand 1 33 cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction extracellular space chemokine activity Ovarian(249;0.0443)|Breast(31;0.133) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155) GAGAAGCAACATCTGGAGAAG 0.438000 OREG0024322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 113 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126389937 126389937 + Missense_Mutation SNP G G C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:126389937G>C ENST00000394329.3 + 11 12183 c.12170G>C c.(12169-12171)gGa>gCa p.G4057A FAT4_ENST00000335110.5_Missense_Mutation_p.G2320A NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4057 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTGTCAGATGGACATTTTCAC 0.368000 22 131 0 0 1 0 0 GYPC 2995 broad.mit.edu 37 2 127453712 127453712 + Silent SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:127453712T>C ENST00000259254.4 + 4 712 c.381T>C c.(379-381)ttT>ttC p.F127F GYPC_ENST00000356887.7_Silent_p.F106F|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Silent_p.F108F NM_002101.4 NP_002092.1 P04921 GLPC_HUMAN glycophorin C (Gerbich blood group) 127 cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) AGGAGTACTTTATTTGAGGGA 0.547000 8 26 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85634326 85634326 + Silent SNP C C G rs150169644 byFrequency TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr4:85634326C>G ENST00000322366.6 - 50 8384 c.7977G>C c.(7975-7977)acG>acC p.T2659T WDFY3_ENST00000295888.4_Silent_p.T2676T Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2676 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTCCACACTCGTGTTTGGTC 0.383000 36 199 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961164 34961164 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:34961164C>A ENST00000329357.5 + 1 252 c.216C>A c.(214-216)cgC>cgA p.R72R NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 72 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TTGTTTGTCGCCGTGACGAGT 0.532000 5 90 0.014758 0.0157 1 1 0 BRINP3 339479 broad.mit.edu 37 1 190068102 190068102 + Nonsense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:190068102G>T ENST00000367462.3 - 8 1578 c.1347C>A c.(1345-1347)tgC>tgA p.C449* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.C347*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 449 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) CGCATGTCAGGCAGGCAGAGG 0.637000 9 81 5.68852e-11 9.40252e-11 1 1 0 PLCB4 5332 broad.mit.edu 37 20 9364878 9364878 + Missense_Mutation SNP A A T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr20:9364878A>T ENST00000378501.2 + 11 899 c.884A>T c.(883-885)tAt>tTt p.Y295F PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y295F|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y295F|PLCB4_ENST00000414679.2_Missense_Mutation_p.Y295F|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y295F|PLCB4_ENST00000378473.3_Missense_Mutation_p.Y295F NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 295 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TTTTGCAGATATCTGATGTCA 0.408000 23 94 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947476 150947476 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:150947476G>A ENST00000261800.5 - 1 1029 c.1017C>T c.(1015-1017)agC>agT p.S339S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 339 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATAAGGGCCGCTCCCACTCC 0.502000 37 177 0 0 1 0 0 KRT19 3880 broad.mit.edu 37 17 39680656 39680656 + Missense_Mutation SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:39680656T>C ENST00000361566.3 - 4 857 c.797A>G c.(796-798)gAt>gGt p.D266G NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) GGCTTCAGCATCCTTCCGGTT 0.592000 12 121 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40661420 40661420 + Silent SNP A A C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:40661420A>C ENST00000372771.4 + 4 618 c.591A>C c.(589-591)ccA>ccC p.P197P NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 197 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CTCAACAGCCAGTAGAAACGG 0.353000 13 70 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876376 35876376 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:35876376T>A ENST00000303115.3 + 8 1297 c.1168T>A c.(1168-1170)Tgc>Agc p.C390S IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 390 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GTCCCTAGACTGCAGGGAGAG 0.542000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 6 53 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228467095 228467095 + Missense_Mutation SNP T T C TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:228467095T>C ENST00000570156.2 + 32 8707 c.8633T>C c.(8632-8634)gTg>gCg p.V2878A OBSCN_ENST00000359599.6_Missense_Mutation_p.V1296A|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.V2449A|OBSCN_ENST00000422127.1_Missense_Mutation_p.V2449A|OBSCN_ENST00000366707.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 1878 Ig-like 28. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) ACCGGGCCCGTGCACTTCACC 0.692000 4 46 0 0 1 0 0 ZNF566 84924 broad.mit.edu 37 19 36967453 36967453 + Nonsense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:36967453G>A ENST00000454319.1 - 2 141 c.7C>T c.(7-9)Cag>Tag p.Q3* ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000472909.2_5'UTR|ZNF566_ENST00000424129.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000434377.2_Nonsense_Mutation_p.Q3*|ZNF566_ENST00000392170.2_Nonsense_Mutation_p.Q3* NM_001145343.1|NM_001145344.1|NM_001145345.1 NP_001138815.1|NP_001138816.1|NP_001138817.1 Q969W8 ZN566_HUMAN zinc finger protein 566 3 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q3*(2) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Esophageal squamous(110;0.162) TATCTCACCTGAGCCATGGCT 0.398000 10 55 0 0 1 0 0 TIMM8A 1678 broad.mit.edu 37 X 100603638 100603638 + Silent SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:100603638G>A ENST00000372902.3 - 1 546 c.15C>T c.(13-15)tcC>tcT p.S5S TIMM8A_ENST00000480575.1_5'UTR NM_004085.3 NP_004076.1 O60220 TIM8A_HUMAN translocase of inner mitochondrial membrane 8 homolog A (yeast) 5 nervous system development|protein import into mitochondrial inner membrane|transmembrane transport mitochondrial inner membrane|mitochondrial intermembrane space protein transporter complex protein binding endometrium(1)|lung(1) 2 CGGAGGAAGAGGAGGAGGAAT 0.607000 6 103 0 0 1 0 0 SACM1L 22908 broad.mit.edu 37 3 45776857 45776857 + Nonsense_Mutation SNP C C T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr3:45776857C>T ENST00000389061.5 + 14 1435 c.1231C>T c.(1231-1233)Caa>Taa p.Q411* SACM1L_ENST00000541314.1_Nonsense_Mutation_p.Q350*|SACM1L_ENST00000418611.1_Nonsense_Mutation_p.Q308* NM_014016.3 NP_054735.3 Q9NTJ5 SAC1_HUMAN SAC1 suppressor of actin mutations 1-like (yeast) 411 SAC. Golgi apparatus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) ACTTCAGGCCCAACTTCAGGT 0.383000 5 74 0 0 1 0 0 OPTC 26254 broad.mit.edu 37 1 203472699 203472699 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:203472699C>A ENST00000367222.2 + 7 966 c.850C>A c.(850-852)Cag>Aag p.Q284K NM_014359.3 NP_055174.1 Q9UBM4 OPT_HUMAN opticin 284 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) AGAGACCATGCAGAGAGACGT 0.562000 6 106 0.0381472 0.0399447 1 1 0 OR2L2 26246 broad.mit.edu 37 1 248202038 248202038 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:248202038G>T ENST00000366479.2 + 1 565 c.469G>T c.(469-471)Gct>Tct p.A157S OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAACTCTTGTGCTCACACAGT 0.433000 33 232 3.90053e-15 7.2232e-15 1 1 0 MUC16 94025 broad.mit.edu 37 19 9077796 9077796 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr19:9077796C>A ENST00000397910.4 - 3 9853 c.9650G>T c.(9649-9651)aGc>aTc p.S3217I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3218 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 GATCTCTGGGCTGATGCTGGG 0.488000 19 129 3.8784e-16 7.31774e-16 1 1 0 PLXNA3 55558 broad.mit.edu 37 X 153690500 153690500 + Silent SNP G G A rs139573527 byFrequency TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chrX:153690500G>A ENST00000369682.3 + 4 1342 c.1167G>A c.(1165-1167)ctG>ctA p.L389L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 389 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTGTGGGCTGGTGTTGAACC 0.637000 5 71 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25339257 25339257 + RNA SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:25339257C>A ENST00000546682.1 + 0 1110 SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 ATACCGTCATCTTCGTTGAAC 0.433000 27 192 3.65163e-15 6.82547e-15 1 1 0 APOB 338 broad.mit.edu 37 2 21229787 21229787 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:21229787G>T ENST00000233242.1 - 26 10080 c.9953C>A c.(9952-9954)cCa>cAa p.P3318Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3318 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGAAATCTGGAAGAGAAAG 0.403000 23 113 4.54149e-19 8.65045e-19 1 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84705711 84705711 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:84705711G>T ENST00000286744.5 + 29 5165 c.4941G>T c.(4939-4941)tgG>tgT p.W1647C ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.W1647C NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1647 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) CAATTTCCTGGCGGCACTGTC 0.527000 9 38 0.00829132 0.00906155 1 1 0 AGAP10 728127 broad.mit.edu 37 10 47207828 47207828 + Missense_Mutation SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr10:47207828C>A ENST00000355232.3 - 5 3467 c.455G>T c.(454-456)aGc>aTc p.S152I RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.S223I(4) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TGTACAGTTGCTTCTTCTTAT 0.264000 4 41 0.00909568 0.0097803 1 1 0 TAS1R2 80834 broad.mit.edu 37 1 19168283 19168283 + Missense_Mutation SNP G G T TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:19168283G>T ENST00000375371.3 - 5 1552 c.1531C>A c.(1531-1533)Cac>Aac p.H511N NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 511 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CAGCAGACGTGGATGCCCACA 0.577000 9 76 7.48243e-07 1.00435e-06 1 1 0 ZCWPW1 55063 broad.mit.edu 37 7 100013643 100013643 + Missense_Mutation SNP G G A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr7:100013643G>A ENST00000398027.2 - 8 953 c.706C>T c.(706-708)Cat>Tat p.H236Y ZCWPW1_ENST00000360951.4_Missense_Mutation_p.H237Y|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.H116Y|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.H116Y NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 236 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCTGAGAATGATCCTGAACT 0.428000 17 184 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156816444 156816444 + Silent SNP C C A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:156816444C>A ENST00000368195.3 - 8 2073 c.1677G>T c.(1675-1677)ggG>ggT p.G559G NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 559 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTAGGGTCACCCCTGGCTCCT 0.612000 7 51 2.0095e-06 2.67933e-06 1 1 0 CROCC 9696 broad.mit.edu 37 1 17185383 17185384 + RNA INS - - C rs33920141 by1000genomes TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr1:17185383_17185384insC ENST00000414128.1 + 0 646 ACTAAATTTTTAGTGCAATAAT 0.465 2 4 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238289948 238289949 + Frame_Shift_Ins INS - - A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr2:238289948_238289949insA ENST00000295550.4 - 5 1958_1959 c.1506_1507insT c.(1504-1509)cacaacfs p.N503fs COL6A3_ENST00000346358.4_Frame_Shift_Ins_p.N503fs|COL6A3_ENST00000409809.1_Frame_Shift_Ins_p.N297fs|COL6A3_ENST00000472056.1_Frame_Shift_Ins_p.N96fs|COL6A3_ENST00000392004.3_Frame_Shift_Ins_p.N297fs|COL6A3_ENST00000392003.2_Frame_Shift_Ins_p.N96fs|COL6A3_ENST00000353578.4_Frame_Shift_Ins_p.N297fs|COL6A3_ENST00000347401.3_Frame_Shift_Ins_p.N302fs NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 503 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTTTTTGTTGGATGGGTATTGA 0.505 27 150 --- --- --- --- PCDHB5 26167 broad.mit.edu 37 5 140515722 140515722 + Frame_Shift_Del DEL A A - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr5:140515722delA ENST00000231134.5 + 1 923 c.706delA c.(706-708)atfs p.N236fs NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 236 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTGGATAATAATGACAACGC 0.537 48 279 --- --- --- --- ADAM2 2515 broad.mit.edu 37 8 39618747 39618747 + Frame_Shift_Del DEL C C - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr8:39618747delC ENST00000265708.4 - 15 1664 c.1561delG c.(1561-1563)tafs p.V521fs ADAM2_ENST00000347580.4_Frame_Shift_Del_p.V502fs|ADAM2_ENST00000379853.2_Frame_Shift_Del_p.V395fs|ADAM2_ENST00000521880.1_Frame_Shift_Del_p.V521fs NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 521 Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTTCCAGATACATCAGTCTTT 0.318 7 116 --- --- --- --- CRH 1392 broad.mit.edu 37 8 67089559 67089561 + In_Frame_Del DEL GCG GCG - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr8:67089559_67089561delGCG ENST00000276571.3 - 2 598_600 c.152_154delCGC c.(151-156)cag>c p.PQ51del NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 51 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) TGCTCGGACTGCGGCGGCGGCTG 0.734 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546831 11546832 + Frame_Shift_Ins INS - - A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr12:11546831_11546832insA ENST00000389362.4 - 3 215_216 c.180_181insT c.(178-183)ccccccfs p.PP60fs PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CCTTGTGGGGGTGGTCCTTGTG 0.584 151 419 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del|BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 2 4 --- --- --- --- TICRR 90381 broad.mit.edu 37 15 90126152 90126152 + Frame_Shift_Del DEL C C - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr15:90126152delC ENST00000268138.7 + 2 995 c.890delC c.(889-891)gcfs p.A297fs TICRR_ENST00000560985.1_Frame_Shift_Del_p.A297fs|RP11-429B14.1_ENST00000559041.1_RNA TOPBP1-interacting checkpoint and replication regulator GAGTATGAGGCCTCGTTTCCA 0.358 22 105 --- --- --- --- LRRC37A11P 342666 broad.mit.edu 37 17 37196001 37196002 + RNA DEL AG AG - rs34712077 TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:37196001_37196002delAG ENST00000425901.2 + 0 2604 NR_033753.2 GAATACAGACAGAAAAGAATTT 0.327 4 2 --- --- --- --- TBC1D3P1-DHX40P1 653645 broad.mit.edu 37 17 58090681 58090682 + RNA DEL TT TT - TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7F2249D6-3A40-444B-9DFD-50B2AE21EE71 F6915BCD-2DD4-49F4-A6BF-29217410DC90 g.chr17:58090681_58090682delTT ENST00000407042.3 - 0 609 CTCTGAATGATTTTTTTTTTTT 0.455 3 3 --- --- --- ---