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 PPID 5481 broad.mit.edu 37 4 159644365 159644365 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr4:159644365C>T ENST00000307720.3 - 1 183 c.76G>A c.(76-78)Ggg>Agg p.G26R NM_005038.2 NP_005029.1 Q08752 PPID_HUMAN peptidylprolyl isomerase D 26 PPIase cyclophilin-type. protein folding cytoplasm|intermediate filament cytoskeleton cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0159) CCTCGCTCCCCTCCGATGTCC 0.632000 17 12 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48750437 48750437 + Missense_Mutation SNP T T C rs141577167 TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr17:48750437T>C ENST00000285238.8 + 18 2427 c.2347T>C c.(2347-2349)Tct>Cct p.S783P NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 783 ABC transporter 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CGCGGTGGACTCTCATGTGGC 0.592000 4 52 0 0 1 0 0 INTS2 57508 broad.mit.edu 37 17 59989372 59989372 + Missense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr17:59989372G>A ENST00000444766.3 - 6 808 c.733C>T c.(733-735)Cgc>Tgc p.R245C INTS2_ENST00000251334.6_Missense_Mutation_p.R237C NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 245 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 TCTGTCCTGCGCCTTCCTCCA 0.428000 24 135 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31323335 31323335 + Silent SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31323335G>A ENST00000412585.2 - 4 682 c.654C>T c.(652-654)atC>atT p.I218I NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CATGGTCAGAGATGGGGTGGT 0.582000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 55 52 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664186 22664186 + RNA SNP A A G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr22:22664186A>G ENST00000426066.1 + 0 709 NR_027293.1 CAGATCAAGAAAGCACTCTGA 0.498000 3 25 0 0 1 0 0 ABHD17A 81926 broad.mit.edu 37 19 1879997 1879997 + Silent SNP G G A rs139072903 byFrequency TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr19:1879997G>A ENST00000292577.7 - 3 883 c.450C>T c.(448-450)taC>taT p.Y150Y ABHD17A_ENST00000590661.1_Silent_p.Y132Y|ABHD17A_ENST00000250974.9_Silent_p.Y201Y NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A AGCTGGCACCGTAGCCGGAGT 0.667000 3 35 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38016255 38016255 + Missense_Mutation SNP G G A rs146651232 byFrequency TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:38016255G>A ENST00000378533.3 - 8 1089 c.983C>T c.(982-984)aCg>aTg p.T328M SRPX_ENST00000538295.1_Missense_Mutation_p.T328M|SRPX_ENST00000432886.2_Missense_Mutation_p.T269M|SRPX_ENST00000479015.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.T315M|SRPX_ENST00000544439.1_Missense_Mutation_p.T308M NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 328 cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TGCAGCTGCCGTTCTGACACC 0.498000 22 34 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29121000 29121000 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr22:29121000T>C ENST00000382580.2 - 5 761 c.686A>G c.(685-687)aAt>aGt p.N229S CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.N186S|CHEK2_ENST00000404276.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Missense_Mutation_p.N186S|CHEK2_ENST00000382566.1_Missense_Mutation_p.N186S|CHEK2_ENST00000405598.1_Missense_Mutation_p.N186S|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000348295.3_Missense_Mutation_p.N186S NM_001005735.1 NP_001005735.1 O96017 CHK2_HUMAN checkpoint kinase 2 186 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 AATTTCAGAATTGTTATTCAA 0.338000 F breast Direct reversal of damage;Other conserved DNA damage response genes 6 23 0 0 1 0 0 TFE3 7030 broad.mit.edu 37 X 48888961 48888961 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:48888961C>T ENST00000315869.7 - 9 1494 c.1235G>A c.(1234-1236)cGg>cAg p.R412Q TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 412 Leucine-zipper. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GGATCGCTGCCGGCTCTCCAG 0.597000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 11 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123810393 123810393 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr11:123810393C>T ENST00000307033.2 + 1 144 c.70C>T c.(70-72)Cgg>Tgg p.R24W NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TTGGGAGCTTCGGTTTGTTTT 0.468000 40 39 0 0 1 0 0 PINK1 65018 broad.mit.edu 37 1 20975019 20975019 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:20975019T>C ENST00000321556.4 + 6 1239 c.1145T>C c.(1144-1146)aTc>aCc p.I382T PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 382 Protein kinase. cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2) 14 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGGCTGGTGATCGCAGATTTT 0.602000 9 25 0 0 1 0 0 MICALL2 79778 broad.mit.edu 37 7 1484922 1484922 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr7:1484922C>T ENST00000297508.7 - 6 959 c.784G>A c.(784-786)Gcc>Acc p.A262T MICALL2_ENST00000405088.4_Missense_Mutation_p.A50T NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 262 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) ACACCCATGGCCCCTGGCTGT 0.687000 17 15 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656510 31656510 + Nonsense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31656510G>A ENST00000375842.4 - 14 1569 c.583C>T c.(583-585)Cag>Tag p.Q195* ABHD16A_ENST00000440843.2_Nonsense_Mutation_p.Q381*|ABHD16A_ENST00000471644.1_5'UTR|ABHD16A_ENST00000395952.3_Nonsense_Mutation_p.Q414*|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 414 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CTGCACAGCTGCTCCGCGTTG 0.582000 17 13 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43576025 43576025 + Missense_Mutation SNP T T C TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr19:43576025T>C ENST00000406487.1 - 4 889 c.791A>G c.(790-792)aAc>aGc p.N264S NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 264 Ig-like C2-type 2. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGGGTTAGAGTTCGCGAAGCA 0.443000 86 109 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31378425 31378425 + Missense_Mutation SNP A A G rs1051786 by1000genomes TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31378425A>G ENST00000449934.2 + 2 230 c.176A>G c.(175-177)tAt>tGt p.Y59C HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 59 C -> Y (in allele MICA*004, allele MICA*005, allele MICA*006, allele MICA*008, allele MICA*009, allele MICA*010, allele MICA*016, allele MICA*019, allele MICA*024, allele MICA*025, allele MICA*027, allele MICA*028, allele MICA*031, allele MICA*032, allele MICA*033, allele MICA*042, allele MICA*044, allele MICA*048, allele MICA*049, allele MICA*051, allele MICA*054 and allele MICA*056; dbSNP:rs1051786). antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) TTCCTGCGCTATGACAGGCAG 0.542000 3 30 0 0 1 0 0 PCDHB10 0 broad.mit.edu 37 5 140574155 140574155 + Missense_Mutation SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr5:140574155C>T ENST00000239446.4 + 1 2214 c.2030C>T c.(2029-2031)gCc>gTc p.A677V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 677 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGGAGGCGGCCCCGGCCCAG 0.687000 6 19 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31378387 31378387 + Silent SNP T T C rs78945208 by1000genomes TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr6:31378387T>C ENST00000449934.2 + 2 192 c.138T>C c.(136-138)ctT>ctC p.L46L HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 46 antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) CAGGGTTTCTTGCTGAGGTAC 0.532000 3 34 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156779137 156779137 + Missense_Mutation SNP A A G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:156779137A>G ENST00000392306.2 - 7 1029 c.890T>C c.(889-891)aTa>aCa p.I297T SH2D2A_ENST00000368198.3_Missense_Mutation_p.I269T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.I287T NM_001161441.1 NP_001154913.1 Q9NP31 SH22A_HUMAN SH2 domain containing 2A 287 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ATAGAAAGCTATGGGTTCATC 0.612000 8 123 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817854 77817854 + Silent SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr4:77817854G>A ENST00000334306.2 - 1 1148 c.1149C>T c.(1147-1149)cgC>cgT p.R383R NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 383 AACGAATGCTGCGAAAGACAG 0.572000 35 58 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97771737 97771737 + Silent SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:97771737C>T ENST00000370192.3 - 17 2275 c.2175G>A c.(2173-2175)aaG>aaA p.K725K DPYD-AS1_ENST00000422980.1_RNA NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 725 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) TCTTACCTTCCTTTGCAGCTC 0.438000 11 224 0 0 1 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75557769 75557769 + Missense_Mutation SNP A A G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr10:75557769A>G ENST00000604729.1 + 19 4190 c.3893A>G c.(3892-3894)aAc>aGc p.N1298S ZSWIM8_ENST00000603114.1_Missense_Mutation_p.N1260S|NDST2_ENST00000456638.1_5'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.N1298S|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.N1293S|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.N1293S zinc finger, SWIM-type containing 8 GGCCTGCACAACTTTGTTTCT 0.507000 24 26 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421632 134421632 + Missense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:134421632G>A ENST00000370766.3 - 7 3679 c.970C>T c.(970-972)Cac>Tac p.H324Y ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.H229Y NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 324 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGTACACTGTGTGTATCACCA 0.388000 21 96 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212473 26212473 + Silent SNP C C T TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chrX:26212473C>T ENST00000379034.1 + 2 659 c.510C>T c.(508-510)gcC>gcT p.A170A NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 170 breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 ATGTGGCTGCCGAGGGTGAAG 0.517000 11 65 0 0 1 0 0 NAV1 89796 broad.mit.edu 37 1 201751394 201751394 + Missense_Mutation SNP G G A TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr1:201751394G>A ENST00000367296.4 + 6 2174 c.1754G>A c.(1753-1755)cGc>cAc p.R585H IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H|NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H NM_020443.4 NP_065176.3 Q8NEY1 NAV1_HUMAN neuron navigator 1 585 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 GGTCGGGACCGCCTGAGTGAT 0.587000 4 82 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70828156 70828156 + Missense_Mutation SNP C C G TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr5:70828156C>G ENST00000358731.4 + 26 6057 c.5794C>G c.(5794-5796)Cca>Gca p.P1932A BDP1_ENST00000380675.2_Missense_Mutation_p.P69A NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1932 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TGTGAATGTCCCAGATGTAGG 0.338000 12 14 0 0 1 0 0 ABL1 25 broad.mit.edu 37 9 133759490 133759492 + In_Frame_Del DEL AAG AAG - TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr9:133759490_133759492delAAG ENST00000318560.5 + 11 2194_2196 c.1813_1815delAAG c.(1813-1815)del p.K609del NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 609 Poly-Lys. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CGCCTTGATCAAGAAGAAGAAGA 0.616 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 8 133 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 7 27 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-CE-A484-01A-11D-A23U-08 TCGA-CE-A484-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx eef9504e-6f7b-4b5d-b47b-45e2ab7c6bef 641a0220-6eec-434a-b606-e256113b65da g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 7 163 --- --- --- ---