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 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 57 0 0 1 0 0 CORIN 10699 broad.mit.edu 37 4 47788901 47788901 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr4:47788901G>A ENST00000273857.4 - 3 249 c.250C>T c.(250-252)Cct>Tct p.P84S CORIN_ENST00000505909.1_Missense_Mutation_p.P84S|CORIN_ENST00000504584.1_Missense_Mutation_p.P84S|CORIN_ENST00000508498.1_5'UTR|CORIN_ENST00000502252.1_Intron NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 84 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 GTGACCAAAGGTTCACTCCCA 0.358000 15 18 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198719693 198719693 + Missense_Mutation SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr1:198719693A>G ENST00000367376.2 + 29 3310 c.3139A>G c.(3139-3141)Atg>Gtg p.M1047V PTPRC_ENST00000594404.1_Missense_Mutation_p.M886V|PTPRC_ENST00000352140.3_Missense_Mutation_p.M999V|PTPRC_ENST00000348564.6_Missense_Mutation_p.M888V|PTPRC_ENST00000442510.2_Missense_Mutation_p.M1049V NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1047 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTTTTGGCAGATGATCTTCCA 0.403000 40 62 0 0 1 0 0 LCE2C 353140 broad.mit.edu 37 1 152648603 152648603 + Missense_Mutation SNP G G T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr1:152648603G>T ENST00000368783.1 + 2 167 c.112G>T c.(112-114)Gct>Tct p.A38S LCE2B_ENST00000417924.2_Intron NM_178429.2 NP_848516.1 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 38 Cys-rich. keratinization endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1) 13 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGTGCCCAGCTCCATGTTT 0.617000 63 91 2.18419e-29 2.33228e-29 1 1 0 IQCA1 79781 broad.mit.edu 37 2 237405943 237405943 + Nonsense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:237405943G>A ENST00000409907.3 - 2 473 c.199C>T c.(199-201)Cag>Tag p.Q67* IQCA1_ENST00000431676.2_Nonsense_Mutation_p.Q67*|IQCA1_ENST00000309507.5_Nonsense_Mutation_p.Q63* Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 67 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 ATTCGTTTCTGGGGGTGGACG 0.473000 9 21 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93220201 93220201 + Missense_Mutation SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr10:93220201A>G ENST00000446394.1 + 3 386 c.286A>G c.(286-288)Att>Gtt p.I96V HECTD2_ENST00000371681.4_Missense_Mutation_p.I96V|HECTD2_ENST00000298068.5_Missense_Mutation_p.I96V Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 96 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ACCACCACCAATTTGCCTTGA 0.353000 51 34 0 0 1 0 0 LYPLAL1 127018 broad.mit.edu 37 1 219347260 219347260 + Nonsense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr1:219347260C>T ENST00000366928.5 + 1 75 c.28C>T c.(28-30)Cag>Tag p.Q10* LYPLAL1_ENST00000483635.1_3'UTR|LYPLAL1_ENST00000366927.3_Nonsense_Mutation_p.Q10*|RP11-135J2.4_ENST00000441331.1_RNA NM_138794.3 NP_620149.1 Q5VWZ2 LYPL1_HUMAN lysophospholipase-like 1 10 cytoplasm lysophospholipase activity large_intestine(1)|lung(5) 6 GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116) GTCGGTTCTGCAGCGCTGTAT 0.627000 19 32 0 0 1 0 0 C19orf35 374872 broad.mit.edu 37 19 2278617 2278617 + Missense_Mutation SNP G G A rs149444944 byFrequency TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:2278617G>A ENST00000342063.3 - 3 671 c.578C>T c.(577-579)gCg>gTg p.A193V NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 193 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCTCGTGCGCGCGCACCAC 0.692000 7 23 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56599551 56599551 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:56599551C>T ENST00000407595.2 + 4 1892 c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 464 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTCCAGAGCCCGGCGGGTCTT 0.522000 3 14 0 0 1 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954612 72954612 + Silent SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr15:72954612G>A ENST00000421285.3 + 11 867 c.867G>A c.(865-867)gcG>gcA p.A289A NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 289 p.A289A(1) NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 CATCCCTGGCGCCCCCAGCAG 0.537000 4 45 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2962846 2962846 + Nonsense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr7:2962846G>A ENST00000396946.4 - 16 2465 c.2062C>T c.(2062-2064)Cga>Tga p.R688* NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 688 PDZ. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AAGCTCCCTCGCGCGTTGCCC 0.701000 Mis DLBCL 29 10 0 0 1 0 0 TAS2R19 259294 broad.mit.edu 37 12 11174543 11174543 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:11174543G>A ENST00000390673.2 - 1 676 c.628C>T c.(628-630)Cgg>Tgg p.R210W TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176888.1 NP_795369.1 P59542 T2R19_HUMAN taste receptor, type 2, member 19 210 sensory perception of taste integral to membrane G-protein coupled receptor activity p.R210W(1) breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1) 17 CTATGGAGCCGCATCTTCTTG 0.403000 4 142 0 0 1 0 0 ESX1 80712 broad.mit.edu 37 X 103498923 103498923 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chrX:103498923G>A ENST00000372588.4 - 2 501 c.418C>T c.(418-420)Cgc>Tgc p.R140C NM_153448.3 NP_703149.1 Q8N693 ESX1_HUMAN ESX homeobox 1 140 negative regulation of transcription, DNA-dependent|regulation of cell cycle cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2) 27 CGGCGGCGGCGTTTCCTCTCT 0.632000 3 39 0 0 1 0 0 NID1 4811 broad.mit.edu 37 1 236143233 236143233 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr1:236143233G>A ENST00000264187.6 - 18 3480 c.3398C>T c.(3397-3399)gCg>gTg p.A1133V NID1_ENST00000366595.3_Missense_Mutation_p.A1000V NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 1133 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGGCATTCCGCCCGATTGGT 0.493000 30 32 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153190627 153190627 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr5:153190627C>T ENST00000285900.5 + 16 2906 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 855 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CGAAGCCATACGGACATCGAC 0.592000 32 42 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148793758 148793758 + Missense_Mutation SNP T T C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr3:148793758T>C ENST00000310053.5 - 3 498 c.305A>G c.(304-306)aAt>aGt p.N102S HLTF_ENST00000392912.2_Missense_Mutation_p.N102S|HLTF_ENST00000494055.1_Missense_Mutation_p.N102S|HLTF_ENST00000465259.1_Missense_Mutation_p.N102S NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 102 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCCATTCACATTGTTTACTTT 0.318000 4 49 0 0 1 0 0 SNRPG 6637 broad.mit.edu 37 2 70520767 70520767 + Missense_Mutation SNP G G C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:70520767G>C ENST00000272348.2 - 1 136 c.15C>G c.(13-15)caC>caG p.H5Q SNRPG_ENST00000454893.1_Missense_Mutation_p.H5Q|SNRPG_ENST00000429728.1_5'UTR NM_003096.2 NP_003087.1 P62308 RUXG_HUMAN small nuclear ribonucleoprotein polypeptide G 5 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding endometrium(1) 1 ACTCGGGAGGGTGAGCTTTGC 0.562000 24 75 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91474844 91474844 + Missense_Mutation SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr10:91474844A>G ENST00000416354.1 + 8 917 c.845A>G c.(844-846)tAt>tGt p.Y282C KIF20B_ENST00000260753.4_Missense_Mutation_p.Y282C|KIF20B_ENST00000394289.2_Missense_Mutation_p.Y282C|KIF20B_ENST00000371728.3_Missense_Mutation_p.Y282C Q96Q89 KI20B_HUMAN kinesin family member 20B 282 Kinesin-motor. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 TACAATGAATATATTTATGAC 0.299000 3 43 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944116 46944116 + Nonsense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr3:46944116C>T ENST00000449590.1 + 14 1515 c.1312C>T c.(1312-1314)Caa>Taa p.Q438* PTH1R_ENST00000430002.2_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000418619.1_Nonsense_Mutation_p.Q438*|PTH1R_ENST00000313049.5_Nonsense_Mutation_p.Q438* NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 438 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GACGCTCTGGCAAGTCCAGAT 0.607000 3 37 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43109261 43109261 + Missense_Mutation SNP C C A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr15:43109261C>A ENST00000267890.6 - 7 680 c.572G>T c.(571-573)cGt>cTt p.R191L TTBK2_ENST00000567274.1_Missense_Mutation_p.R156L|TTBK2_ENST00000567840.1_Missense_Mutation_p.R191L NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 191 Protein kinase. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) TGATGCATAACGAACTGTCCC 0.398000 13 14 0.00316338 0.00316338 1 1 0 NAV2 89797 broad.mit.edu 37 11 20005785 20005785 + Silent SNP C C T rs143699420 TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr11:20005785C>T ENST00000396085.1 + 11 3121 c.2760C>T c.(2758-2760)gaC>gaT p.D920D NAV2_ENST00000396087.3_Silent_p.D943D|NAV2_ENST00000527559.2_Silent_p.D872D|NAV2_ENST00000360655.4_Silent_p.D856D|NAV2_ENST00000349880.4_Silent_p.D920D|NAV2_ENST00000540292.1_Silent_p.D874D NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 943 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GCCTCGGAGACGCTGACAGGT 0.587000 17 34 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23239012 23239012 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr14:23239012C>T ENST00000358043.5 + 4 722 c.404C>T c.(403-405)gCc>gTc p.A135V OXA1L_ENST00000285848.5_Missense_Mutation_p.A211V|OXA1L_ENST00000604262.1_Missense_Mutation_p.A151V|OXA1L_ENST00000412791.1_Missense_Mutation_p.A151V Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 151 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) ACAGTCTTTGCCCGCTGCCTG 0.478000 5 342 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45303942 45303942 + Splice_Site SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr5:45303942C>T ENST00000303230.4 - 6 1435 c.e6-1 NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGACTATCTCCTAAAGATGTC 0.333000 28 43 0 0 1 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24261576 24261576 + Missense_Mutation SNP G G A rs146989743 byFrequency TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr8:24261576G>A ENST00000538205.1 + 14 1691 c.1144G>A c.(1144-1146)Gga>Aga p.G382R RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.G461R|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.G382R NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 461 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AACTGATTGCGGAGGAGATGC 0.423000 16 29 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36050006 36050006 + Silent SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr13:36050006G>A ENST00000379919.4 - 1 826 c.270C>T c.(268-270)gaC>gaT p.D90D NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 90 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) GTGAGCCATCGTCCACGAAGT 0.577000 27 49 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72425419 72425419 + Missense_Mutation SNP G G A rs147025898 TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:72425419G>A ENST00000333850.3 + 11 1558 c.1417G>A c.(1417-1419)Gac>Aac p.D473N NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 473 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CCTTCGCAGCGACTTGAATAC 0.418000 38 94 0 0 1 0 0 LILRB1 0 broad.mit.edu 37 19 55148290 55148290 + Silent SNP A A T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:55148290A>T ENST00000396331.1 + 16 2271 c.1914A>T c.(1912-1914)ccA>ccT p.P638P LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.P689P|LILRB1_ENST00000434867.2_Silent_p.P638P|LILRB1_ENST00000396317.1_Silent_p.P622P|LILRB1_ENST00000396315.1_Silent_p.P640P|LILRB1_ENST00000324602.7_Silent_p.P640P|LILRB1_ENST00000396321.2_Silent_p.P638P|LILRB1_ENST00000396327.3_Silent_p.P639P|LILRB1_ENST00000396332.4_Silent_p.P639P|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000418536.2_Silent_p.P622P|LILRB1_ENST00000462628.1_3'UTR NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 638 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGCCCTCTCCAGCTGTGCCCA 0.647000 HNSCC(37;0.09) 26 46 0 0 1 0 0 RAMP1 10267 broad.mit.edu 37 2 238786003 238786003 + Splice_Site SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:238786003A>G ENST00000254661.4 + 2 322 c.191_splice c.e2+1 p.R64_splice RAMP1_ENST00000409726.1_Splice_Site_p.R42_splice|RAMP1_ENST00000403885.1_Splice_Site_p.R42_splice|RAMP1_ENST00000404910.2_Splice_Site_p.R42_splice NM_005855.2 NP_005846.1 O60894 RAMP1_HUMAN receptor (G protein-coupled) activity modifying protein 1 64 intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane protein transporter activity kidney(1)|large_intestine(1)|lung(2) 4 Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288) Pramlintide(DB01278) CAGGACCATCAGGTGAGTCCC 0.647000 28 31 0 0 1 0 0 MIS18A 54069 broad.mit.edu 37 21 33651140 33651140 + Silent SNP G G T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr21:33651140G>T ENST00000290130.3 - 1 240 c.186C>A c.(184-186)gcC>gcA p.A62A MIS18A-AS1_ENST00000453549.1_RNA NM_018944.2 NP_061817.1 Q9NYP9 MS18A_HUMAN MIS18 kinetochore protein A 62 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 7 TCTCCATGTCGGCCACCGACG 0.692000 5 0 0.000602214 0.000621959 1 1 0 PRPF8 10594 broad.mit.edu 37 17 1563231 1563231 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr17:1563231C>T ENST00000572621.1 - 30 5115 c.4850G>A c.(4849-4851)cGa>cAa p.R1617Q PRPF8_ENST00000304992.6_Missense_Mutation_p.R1617Q Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 1617 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) ATATGACTTTCGGGGATGGAT 0.443000 24 41 0 0 1 0 0 TRAJ12 0 broad.mit.edu 37 14 23000897 23000897 + RNA SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr14:23000897A>G ENST00000390525.1 + 0 9 TGGGATGGATAGCAGCTATAA 0.458000 30 47 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22939396 22939396 + Silent SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:22939396A>G ENST00000397104.3 - 7 2774 c.2775T>C c.(2773-2775)ttT>ttC p.F925F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGGATTGCTTAAAAGCTTTGC 0.378000 10 26 0 0 1 0 0 FEM1A 55527 broad.mit.edu 37 19 4792690 4792690 + Missense_Mutation SNP C C A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:4792690C>A ENST00000269856.3 + 1 963 c.824C>A c.(823-825)tCc>tAc p.S275Y AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 275 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGCTGCAGCTCCTCCCCAGAG 0.647000 19 31 8.00594e-06 8.40624e-06 1 1 0 CYP2S1 29785 broad.mit.edu 37 19 41704370 41704370 + Missense_Mutation SNP G G A rs45457494 byFrequency TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:41704370G>A ENST00000310054.4 + 4 713 c.497G>A c.(496-498)cGc>cAc p.R166H CYP2S1_ENST00000542619.1_Intron NM_030622.6 NP_085125.1 Q96SQ9 CP2S1_HUMAN cytochrome P450, family 2, subfamily S, polypeptide 1 166 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2) 14 CCCCCAGGACGCCCATTCGAT 0.627000 47 74 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20269374 20269374 + Missense_Mutation SNP C C G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr20:20269374C>G ENST00000245957.5 + 23 2994 c.2918C>G c.(2917-2919)gCc>gGc p.A973G C20orf26_ENST00000377309.2_Intron NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 973 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) AACGACATAGCCATCAGAGCT 0.428000 47 75 0 0 1 0 0 DDX18 8886 broad.mit.edu 37 2 118577297 118577297 + Missense_Mutation SNP A A C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:118577297A>C ENST00000263239.2 + 3 571 c.443A>C c.(442-444)gAa>gCa p.E148A DDX18_ENST00000474694.1_3'UTR NM_006773.3 NP_006764.3 Q9NVP1 DDX18_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 148 ATP binding|ATP-dependent RNA helicase activity|RNA binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAAGAAACAGAAAATAATGTG 0.398000 OREG0003814 type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 21 18 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10777358 10777358 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:10777358G>A ENST00000075503.3 - 8 1338 c.818C>T c.(817-819)gCt>gTt p.A273V NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 273 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 AACTTCATAAGCCAGGCCTAA 0.507000 HNSCC(73;0.22) 50 89 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53185077 53185077 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:53185077C>T ENST00000417996.2 - 7 1522 c.1448G>A c.(1447-1449)cGt>cAt p.R483H KRT3_ENST00000309505.3_Missense_Mutation_p.R483H NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 483 Coil 2.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity p.R483H(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CTGGTAGTCACGTAGCAGCCG 0.607000 42 67 0 0 1 0 0 XRCC6 2547 broad.mit.edu 37 22 42042990 42042990 + Silent SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr22:42042990C>T ENST00000359308.4 + 6 1519 c.864C>T c.(862-864)ctC>ctT p.L288L XRCC6_ENST00000405506.1_Silent_p.L238L|XRCC6_ENST00000405878.1_Silent_p.L288L|XRCC6_ENST00000428575.2_Silent_p.L155L|XRCC6_ENST00000402580.3_Silent_p.L247L|XRCC6_ENST00000360079.3_Silent_p.L288L P12956 XRCC6_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 6 288 Ku. DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 CAATAAAGCTCTATCGGGAAA 0.458000 Non-homologous end-joining 65 112 0 0 1 0 0 C2CD5 9847 broad.mit.edu 37 12 22646232 22646232 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:22646232C>T ENST00000333957.4 - 11 1442 c.1187G>A c.(1186-1188)aGa>aAa p.R396K C2CD5_ENST00000542676.1_Missense_Mutation_p.R396K|C2CD5_ENST00000536386.1_Missense_Mutation_p.R398K|C2CD5_ENST00000446597.1_Missense_Mutation_p.R396K|C2CD5_ENST00000545552.1_Missense_Mutation_p.R409K|C2CD5_ENST00000396028.2_Missense_Mutation_p.R387K|C2CD5_ENST00000544930.1_Missense_Mutation_p.R211K NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 TATTTCTTGTCTGATTTCTGC 0.328000 4 108 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062368 144062368 + Missense_Mutation SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr7:144062368A>G ENST00000056217.5 + 2 2780 c.2606A>G c.(2605-2607)cAt>cGt p.H869R NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 869 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CGGGGAGGACATATGAACTCA 0.622000 4 94 0 0 1 0 0 SPAG9 9043 broad.mit.edu 37 17 49057179 49057179 + Missense_Mutation SNP G G C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr17:49057179G>C ENST00000262013.7 - 26 3545 c.3337C>G c.(3337-3339)Cgt>Ggt p.R1113G SPAG9_ENST00000510283.1_Missense_Mutation_p.R956G|SPAG9_ENST00000357122.4_Missense_Mutation_p.R1099G|SPAG9_ENST00000505279.1_Missense_Mutation_p.R1103G NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 1113 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) TGATAGAGACGGAGCGTAGAA 0.478000 29 55 0 0 1 0 0 PCDHA13 0 broad.mit.edu 37 5 140262056 140262056 + Missense_Mutation SNP C C G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr5:140262056C>G ENST00000289272.2 + 1 203 c.203C>G c.(202-204)tCc>tGc p.S68C PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S68C|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGGGTGGCGTCCAAAAGACAC 0.627000 5 168 0 0 1 0 0 COLGALT1 79709 broad.mit.edu 37 19 17688065 17688065 + Missense_Mutation SNP G G C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:17688065G>C ENST00000252599.4 + 7 1131 c.1011G>C c.(1009-1011)aaG>aaC p.K337N NM_024656.2 NP_078932.2 collagen beta(1-O)galactosyltransferase 1 CACCGGACAAGATGGGCTTCG 0.672000 9 25 0 0 1 0 0 CES5A 221223 broad.mit.edu 37 16 55907858 55907858 + Translation_Start_Site SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr16:55907858G>A ENST00000518005.1 - 0 229 CES5A_ENST00000290567.9_Silent_p.N55N|CES5A_ENST00000541580.1_Intron|CES5A_ENST00000521992.1_Silent_p.N84N|CES5A_ENST00000520435.1_Silent_p.N55N|CES5A_ENST00000319165.9_Silent_p.N55N Q6NT32 EST5A_HUMAN carboxylesterase 5A extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 CGAGGAACACGTTCACAGGCA 0.612000 6 10 0 0 1 0 0 CD69 969 broad.mit.edu 37 12 9913370 9913370 + Missense_Mutation SNP G G C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:9913370G>C ENST00000228434.3 - 1 127 c.47C>G c.(46-48)cCg>cGg p.P16R CD69_ENST00000536709.1_Missense_Mutation_p.P16R NM_001781.2 NP_001772.1 Q07108 CD69_HUMAN CD69 molecule 16 integral to plasma membrane sugar binding|transmembrane receptor activity endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 TCCACTCTCCGGATGCAAAGA 0.363000 26 50 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152420177 152420177 + Silent SNP C C G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr2:152420177C>G ENST00000397345.3 - 119 18838 c.18636G>C c.(18634-18636)gtG>gtC p.V6212V NEB_ENST00000603639.1_Silent_p.V6212V|NEB_ENST00000409198.1_Silent_p.V4511V|NEB_ENST00000427231.2_Silent_p.V6212V|NEB_ENST00000604864.1_Silent_p.V6212V|NEB_ENST00000172853.10_Silent_p.V4511V NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 6194 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ATTCACCGATCACTTTTCCAG 0.433000 17 224 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139745496 139745496 + Silent SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr5:139745496C>T ENST00000230993.6 + 13 1895 c.1860C>T c.(1858-1860)ggC>ggT p.G620G SLC4A9_ENST00000507527.1_Silent_p.G620G|SLC4A9_ENST00000506757.2_Silent_p.G596G|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Silent_p.G582G NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 620 Membrane (anion exchange). integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCCTGGCTGTCATACAG 0.557000 54 100 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31832450 31832450 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr6:31832450C>T ENST00000544672.1 - 20 2058 c.1762G>A c.(1762-1764)Gac>Aac p.D588N SLC44A4_ENST00000375562.4_Missense_Mutation_p.D622N|SLC44A4_ENST00000229729.6_Missense_Mutation_p.D664N NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 664 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) AAGAGCGTGTCCACACACATG 0.522000 26 65 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107497259 107497259 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr3:107497259G>A ENST00000415149.2 + 13 2423 c.2096G>A c.(2095-2097)aGc>aAc p.S699N BBX_ENST00000325805.8_Missense_Mutation_p.S699N|BBX_ENST00000473542.1_3'UTR|BBX_ENST00000402543.1_Missense_Mutation_p.S699N|BBX_ENST00000406780.1_Missense_Mutation_p.S699N|BBX_ENST00000416476.2_Missense_Mutation_p.A363T NM_001142568.1|NM_020235.5 NP_001136040.1|NP_064620.2 Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 699 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) AAATTCAACAGCCTCCCTCAA 0.408000 33 56 0 0 1 0 0 AKR1C3 8644 broad.mit.edu 37 10 5139704 5139704 + Translation_Start_Site SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr10:5139704G>A ENST00000439082.2 + 0 444 AKR1C3_ENST00000470862.2_3'UTR|AKR1C3_ENST00000605149.1_Missense_Mutation_p.V88I|AKR1C3_ENST00000380554.3_Missense_Mutation_p.V111I P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) ATTGGACTATGTTGACCTCTA 0.403000 34 46 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25326458 25326458 + RNA SNP A A G TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr15:25326458A>G ENST00000546682.1 + 0 71 SNORD116-15_ENST00000384445.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 TTCCATATATACATTCCTTGG 0.463000 4 219 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126135240 126135240 + Missense_Mutation SNP C C T TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr3:126135240C>T ENST00000393425.1 + 5 406 c.307C>T c.(307-309)Cgg>Tgg p.R103W CCDC37_ENST00000352312.1_Missense_Mutation_p.R103W|CCDC37_ENST00000505024.1_Missense_Mutation_p.R103W Q494V2 CCD37_HUMAN coiled-coil domain containing 37 103 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) CACCAGCCTGCGGCGGCAGCT 0.662000 3 39 0 0 1 0 0 PCDHB8 0 broad.mit.edu 37 5 140558166 140558166 + Missense_Mutation SNP G G A TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr5:140558166G>A ENST00000239444.2 + 1 796 c.551G>A c.(550-552)cGc>cAc p.R184H NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R184H(1) 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) GTCCTCACCCGCAAACGCAGT 0.483000 4 116 0 0 1 0 0 ZNF577 84765 broad.mit.edu 37 19 52376325 52376325 + Silent SNP G G C TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr19:52376325G>C ENST00000420592.1 - 6 2074 c.741C>G c.(739-741)acC>acG p.T247T ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Silent_p.T247T|ZNF577_ENST00000301399.5_Silent_p.T306T|ZNF577_ENST00000412216.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TAAAATAGAAGGTTCTTCCAC 0.433000 22 56 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583591 47583591 + Frame_Shift_Del DEL A A - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr1:47583591delA ENST00000334194.3 + 12 1506 c.1503delA c.(1501-1503)gcfs p.A501fs CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 501 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 ATGTGTTTGCAAAAAAAGTTT 0.383 7 27 --- --- --- --- TPD52L1 0 broad.mit.edu 37 6 125550359 125550359 + Frame_Shift_Del DEL T T - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr6:125550359delT ENST00000534000.1 + 3 527 c.231delT c.(229-231)aafs p.N77fs TPD52L1_ENST00000532429.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000392482.2_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000524679.1_Frame_Shift_Del_p.N48fs|TPD52L1_ENST00000528193.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368388.2_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000527711.1_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000304877.13_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000368402.5_Frame_Shift_Del_p.N77fs|TPD52L1_ENST00000534199.1_Frame_Shift_Del_p.N48fs NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 77 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) ACCTGATGAATGAATTAAAAC 0.388 43 56 --- --- --- --- DLX6 1750 broad.mit.edu 37 7 96639271 96639271 + Frame_Shift_Del DEL G G - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr7:96639271delG ENST00000518156.2 + 3 1224 c.794delG c.(793-795)atfs p.S265fs DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000007660.5_Frame_Shift_Del_p.S237fs|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000555308.1_Frame_Shift_Del_p.S137fs P56179 DLX6_HUMAN distal-less homeobox 6 147 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) AAGGGTGTCAGTATGCCCCCC 0.627 21 12 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99123549 99123550 + Frame_Shift_Del DEL TT TT - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr7:99123549_99123550delTT ENST00000394170.2 + 6 1137_1138 c.886_887delTT c.(886-888)tfs p.F296fs ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.F296fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.F296fs NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 296 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGATCCAGACTTTGCAGAAGTC 0.500 21 88 --- --- --- --- KRT76 51350 broad.mit.edu 37 12 53162773 53162775 + In_Frame_Del DEL ACT ACT - rs1464423 by1000genomes TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr12:53162773_53162775delACT ENST00000332411.2 - 9 1692_1694 c.1639_1641delAGT c.(1639-1641)del p.S547del NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 547 Tail. cytoskeleton organization keratin filament structural molecule activity p.S547_G548insS(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ctccatagccactgctgctgctg 0.635 2 4 --- --- --- --- FMN1 342184 broad.mit.edu 37 15 33261122 33261123 + In_Frame_Ins INS - - CAA TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr15:33261122_33261123insCAA ENST00000334528.9 - 4 2109_2110 c.2110_2111insTTG c.(2110-2112)acc>TTGacc p.703_704insL FMN1_ENST00000561249.1_In_Frame_Ins_p.828_829insL|FMN1_ENST00000559047.1_In_Frame_Ins_p.926_927insL NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 926 Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) AAgtgggggtgggggtgggggt 0.673 2 4 --- --- --- --- SMAD2 4087 broad.mit.edu 37 18 45368212 45368215 + Frame_Shift_Del DEL AGCA AGCA - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr18:45368212_45368215delAGCA ENST00000402690.2 - 11 1781_1784 c.1387_1390delTGCT c.(1387-1392)cafs p.CS463fs SMAD2_ENST00000586040.1_Frame_Shift_Del_p.CS433fs|SMAD2_ENST00000262160.6_Frame_Shift_Del_p.CS463fs|SMAD2_ENST00000356825.4_Frame_Shift_Del_p.CS433fs NM_001003652.3 NP_001003652.1 Q15796 SMAD2_HUMAN SMAD family member 2 463 MH2. anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis activin responsive factor complex|cytosol activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding p.R462fs*>4(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1) 43 GACATGCTTGAGCAACGCACTGAA 0.431 14 45 --- --- --- --- GZF1 64412 broad.mit.edu 37 20 23345921 23345923 + In_Frame_Del DEL GAG GAG - TCGA-KK-A7AY-01A-11D-A33T-08 TCGA-KK-A7AY-11A-21D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 80ac0a78-2ebc-488d-a0db-c2fda0b57966 258a8d92-ed5a-4028-a93f-28b61fa48dec g.chr20:23345921_23345923delGAG ENST00000338121.5 + 2 978_980 c.901_903delGAG c.(901-903)del p.E306del GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_In_Frame_Del_p.E306del|GZF1_ENST00000461789.1_3'UTR Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 306 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2) 24 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ggaggaggaagaggaggaggagg 0.532 7 56 --- --- --- ---