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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 12 110 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24104167 24104167 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:24104167C>T ENST00000303531.7 + 6 737 c.585C>T c.(583-585)taC>taT p.Y195Y PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Silent_p.Y195Y NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 195 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAGATCCCTACGTAAAACTGA 0.408000 33 485 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65627671 65627671 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:65627671C>T ENST00000327987.4 - 4 894 c.643G>A c.(643-645)Gcc>Acc p.A215T NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 215 Ig-like C2-type 2. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CGGATACTGGCGATGTTTGAG 0.607000 5 508 0 0 1 0 0 PSG6 5675 broad.mit.edu 37 19 43411250 43411250 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:43411250G>A ENST00000187910.2 - 5 1129 c.1064C>T c.(1063-1065)gCg>gTg p.A355V PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) GTTAGAGTCCGCAAAGCAGGA 0.448000 7 1177 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103629780 103629780 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:103629780C>T ENST00000428762.1 - 1 183 c.24G>A c.(22-24)cgG>cgA p.R8R RELN_ENST00000343529.5_Silent_p.R8R|RELN_ENST00000424685.2_Silent_p.R8R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 8 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GGAAAGTCTGCCGGGCCCAGC 0.716000 4 114 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999888 45999888 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:45999888G>A ENST00000400372.1 - 1 593 c.568C>T c.(568-570)Ccc>Tcc p.P190S TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 190 22 X 5 AA repeats of C-C-X(3). keratin filament endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GAGCAGACGGGCACACAGCAG 0.622000 7 1250 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74077738 74077738 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:74077738G>A ENST00000334586.5 + 7 865 c.782G>A c.(781-783)cGc>cAc p.R261H EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000607838.1_3'UTR NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 261 Leu-rich. response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 GCCATTGAGCGCATAGGCTAC 0.622000 6 719 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427369 49427369 + Nonsense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:49427369G>A ENST00000301067.7 - 39 11118 c.11119C>T c.(11119-11121)Cga>Tga p.R3707* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGAGGCTTCGAAGAGCAAGG 0.577000 7 426 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350466 100350466 + RNA SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:100350466C>T ENST00000542585.1 + 0 2886 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCAGAAAAACCCACCATCTCC 0.507000 7 634 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651459 1651459 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:1651459G>T ENST00000399676.2 + 1 427 c.389G>T c.(388-390)gGc>gTc p.G130V NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 130 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGGGGCTGTGGCTCCTGTGGG 0.692000 11 348 0.00121646 0.00124765 1 1 0 TUBB3 10381 broad.mit.edu 37 16 90001998 90001998 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:90001998G>A ENST00000304984.5 + 3 3218 c.923G>A c.(922-924)cGc>cAc p.R308H TUBB3_ENST00000315491.7_Missense_Mutation_p.R380H|TUBB3_ENST00000554444.1_Missense_Mutation_p.R308H|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.R727H Q13509 TBB3_HUMAN tubulin, beta 3 class III 380 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) CTGTTCAAGCGCATCTCCGAG 0.627000 6 955 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92929289 92929289 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:92929289C>T ENST00000327111.3 + 3 2700 c.1013C>T c.(1012-1014)gCg>gTg p.A338V NR2F1_ENST00000506162.1_3'UTR NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 338 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) CTGTCGGATGCGGCCCACATC 0.592000 6 682 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57552093 57552093 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:57552093G>A ENST00000258214.2 - 6 1381 c.1135C>T c.(1135-1137)Cgg>Tgg p.R379W NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 379 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 ACCTGTGCCCGCAGCTTCTTG 0.701000 7 1156 0 0 1 0 0 FOXD4 2298 broad.mit.edu 37 9 117757 117757 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:117757C>T ENST00000382500.2 - 1 660 c.363G>A c.(361-363)ccG>ccA p.P121P NM_207305.4 NP_997188.2 Q12950 FOXD4_HUMAN forkhead box D4 121 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) GGCGCTTGTGCGGGCTTTGCA 0.652000 8 1348 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146857 70146857 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146857C>T ENST00000335568.5 + 1 641 c.639C>T c.(637-639)aaC>aaT p.N213N UGT2B28_ENST00000511240.1_Silent_p.N213N NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 213 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGGTAAAAAACATGATCTATG 0.348000 7 297 0 0 1 0 0 EGR3 1960 broad.mit.edu 37 8 22548167 22548167 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:22548167G>A ENST00000317216.2 - 2 1340 c.983C>T c.(982-984)aCg>aTg p.T328M EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Missense_Mutation_p.T290M NM_001199881.1|NM_004430.2 NP_001186810.1|NP_004421.2 Q06889 EGR3_HUMAN early growth response 3 328 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) CTTCTCGCCCGTATGAGTGCG 0.632000 6 653 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48387849 48387849 + Missense_Mutation SNP C C T rs149031179 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:48387849C>T ENST00000224600.4 - 1 3142 c.3029G>A c.(3028-3030)cGc>cAc p.R1010H NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1010 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.R1010H(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) TCCAGGAATGCGGTCCTTGGC 0.597000 6 662 0 0 1 0 0 NUFIP2 57532 broad.mit.edu 37 17 27620945 27620945 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:27620945G>T ENST00000225388.4 - 1 191 c.133C>A c.(133-135)Cac>Aac p.H45N NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N NM_020772.2 NP_065823.1 Q7Z417 NUFP2_HUMAN nuclear fragile X mental retardation protein interacting protein 2 45 His-rich. nucleus|polysomal ribosome protein binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1) 24 BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) tggtggtggtggttgtggctg 0.587000 8 708 0.000157383 0.000163515 1 1 0 TRHDE 29953 broad.mit.edu 37 12 72667194 72667194 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:72667194G>A ENST00000261180.4 + 1 732 c.636G>A c.(634-636)ccG>ccA p.P212P TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 212 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCCTCTACCCGCAAACCCAGG 0.567000 6 457 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63511901 63511901 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:63511901G>A ENST00000322893.7 - 1 272 c.4C>T c.(4-6)Ccg>Tcg p.P2S KCNH5_ENST00000394968.1_Intron|KCNH5_ENST00000394964.2_Intron|KCNH5_ENST00000420622.2_Missense_Mutation_p.P2S NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 2 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGCCCCCCGGCATCCTGGGT 0.602000 5 260 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146870 70146870 + Missense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146870C>A ENST00000335568.5 + 1 654 c.652C>A c.(652-654)Ctt>Att p.L218I UGT2B28_ENST00000511240.1_Missense_Mutation_p.L218I NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 218 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GATCTATGTGCTTTATTTTGA 0.348000 5 303 1.23904e-05 1.31579e-05 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7724800 7724800 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:7724800C>T ENST00000303635.7 + 9 2400 c.2193C>T c.(2191-2193)ggC>ggT p.G731G CAMTA1_ENST00000439411.2_Silent_p.G731G NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GAAGCGCCGGCGGCGTCCCCA 0.672000 T WWTR1 epitheliod hemangioendothelioma 16 437 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644064 53644064 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:53644064T>C ENST00000452676.2 - 5 2446 c.2020A>G c.(2020-2022)Aga>Gga p.R674G ZNF347_ENST00000334197.7_Missense_Mutation_p.R673G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R674G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAACTCTCCGATGTCTT 0.428000 6 552 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:22664606A>G ENST00000426066.1 + 0 787 NR_027293.1 GTCTTCATGCAAACTTGGTAT 0.398000 4 76 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11097591 11097591 + RNA SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:11097591G>A ENST00000470054.1 - 0 278 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) caccacaggggactcctcctt 0.542000 22 506 0 0 1 0 0 MIR329-1 0 broad.mit.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:101493161A>T ENST00000385028.1 + 0 40 NR_029967.1 TGTTTCTTTAATGAGGACGAA 0.468000 6 585 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:20414280G>A ENST00000380338.4 - 5 850 c.564C>T c.(562-564)agC>agT p.S188S MLLT3_ENST00000429426.2_Silent_p.S185S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) TGGTActactgctgctgctgc 0.502000 T MLL ALL 6 506 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160098456 160098456 + Silent SNP G G C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:160098456G>C ENST00000361216.3 + 9 1121 c.1032G>C c.(1030-1032)ctG>ctC p.L344L ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 344 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) GCCTGACCCTGACAGCCAAGC 0.572000 8 325 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:281566A>G ENST00000534750.1 + 4 2037 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 6 795 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21209136 21209136 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:21209136G>T ENST00000574002.1 - 19 2528 c.2046C>A c.(2044-2046)agC>agA p.S682R ZP2_ENST00000574091.1_Missense_Mutation_p.S673R|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.S682R Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 682 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TCTCCCCACTGCTCCCACTTG 0.468000 35 561 2.20914e-33 2.4546e-33 1 1 0 TTC17 55761 broad.mit.edu 37 11 43429013 43429013 + Silent SNP A A T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:43429013A>T ENST00000039989.4 + 15 1964 c.1950A>T c.(1948-1950)ccA>ccT p.P650P TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.P650P NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 650 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 ATTTAGCTCCACTTCAATACC 0.438000 15 226 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 6 436 0 0 1 0 0 AC093642.5 0 broad.mit.edu 37 2 243037116 243037116 + RNA SNP T T A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:243037116T>A ENST00000456398.1 + 0 248 GCTGGAAGAATTGTGAATCTT 0.398000 7 390 0 0 1 0 0 HS6ST1 9394 broad.mit.edu 37 2 129026419 129026419 + Nonsense_Mutation SNP G G A rs139541363 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:129026419G>A ENST00000259241.6 - 2 566 c.553C>T c.(553-555)Cga>Tga p.R185* NM_004807.2 NP_004798.3 O60243 H6ST1_HUMAN heparan sulfate 6-O-sulfotransferase 1 185 3'-phosphate binding (Potential). heparan sulfate proteoglycan biosynthetic process, enzymatic modification integral to plasma membrane sulfotransferase activity p.R185*(2) endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.117) ACGGGGTCTCGTAGCAGGGTG 0.627000 12 275 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 16 308 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182988349 182988349 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:182988349G>A ENST00000326505.3 + 2 1293 c.763G>A c.(763-765)Gga>Aga p.G255R MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.G255R|B3GNT5_ENST00000460419.1_Missense_Mutation_p.G255R|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 255 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTACACAGCCGGAGCTGCCTA 0.473000 4 261 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116804 53116804 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:53116804G>A ENST00000597597.1 - 2 3267 c.1014C>T c.(1012-1014)atC>atT p.I338I ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron P51522 ZNF83_HUMAN zinc finger protein 83 338 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.I338I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CTCCAGTGTGGATTCTCCAGT 0.413000 7 598 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995016 140995016 + Missense_Mutation SNP T T A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:140995016T>A ENST00000285879.4 + 4 2112 c.1826T>A c.(1825-1827)cTc>cAc p.L609H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 609 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) ATGTCTCCTCTCTACTTTCCT 0.572000 HNSCC(15;0.026) 14 1719 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32820252 32820252 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:32820252C>T ENST00000354258.4 - 2 967 c.806G>A c.(805-807)gGc>gAc p.G269D TAP1_ENST00000425148.2_Missense_Mutation_p.G8D|PSMB9_ENST00000395330.1_Intron NM_000593.5 NP_000584.2 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 269 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 AGTGAGGCGGCCCGTAAAGAA 0.507000 6 327 0 0 1 0 0 FAM127B 26071 broad.mit.edu 37 X 134186027 134186027 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:134186027C>T ENST00000370775.2 - 1 178 c.112G>A c.(112-114)Gac>Aac p.D38N FAM127B_ENST00000520964.1_5'UTR NM_001078172.1 NP_001071640.1 Q9BWD3 F127B_HUMAN family with sequence similarity 127, member B 38 breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;0.000127) GGGAGTCGGTCGGTATCTCCG 0.637000 15 724 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520358 33520358 + Silent SNP A A G rs74740601 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:33520358A>G ENST00000297307.5 - 1 1054 c.969T>C c.(967-969)atT>atC p.I323I NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 323 DUF6 2. integral to membrane p.I323I(1) TCTGGGCTGTAATGATGGCAA 0.547000 7 435 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331338 85331338 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:85331338C>T ENST00000440886.1 - 1 504 c.466G>A c.(466-468)Gcc>Acc p.A156T LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.A156T Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 156 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle p.A156T(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 ATAAAAATGGCGATGGCCCAG 0.542000 8 844 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227508 43227508 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:43227508C>T ENST00000332499.2 + 1 2825 c.951C>T c.(949-951)ggC>ggT p.G317G NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 317 Required for inhibition of ESR1-dependent transcription. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGCTGGGTGGCGACGACGCGC 0.662000 6 617 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887686 12887686 + Silent SNP T T C rs59802947 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:12887686T>C ENST00000535591.1 - 3 366 c.171A>G c.(169-171)agA>agG p.R57R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 57 p.R57R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGTTTCCATCTCCTGTGGG 0.468000 33 813 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 6 235 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839353 62839353 + Silent SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:62839353A>G ENST00000536311.1 + 7 1168 c.804A>G c.(802-804)gaA>gaG p.E268E MYT1_ENST00000328439.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 268 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E268E(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaagaggaggagg 0.572000 5 81 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G G T rs148273194 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:12885289G>T ENST00000535591.1 - 4 1017 c.822C>A c.(820-822)ctC>ctA p.L274L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 274 p.L274L(3) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GGCACTGGGAGAGATGCTTCA 0.458000 7 756 0.00136819 0.0013973 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 17 156 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148657447 148657447 + Missense_Mutation SNP C C G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:148657447C>G ENST00000241416.7 + 4 1144 c.508C>G c.(508-510)Cct>Gct p.P170A ACVR2A_ENST00000404590.1_Missense_Mutation_p.P170A|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P62A|AC009480.3_ENST00000402410.2_RNA NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 170 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) GGCCTACCCTCCTGTACTTGT 0.383000 19 512 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182358062 182358062 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:182358062C>T ENST00000397033.2 + 11 1594 c.1164C>T c.(1162-1164)atC>atT p.I388I NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 388 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATGTTGCTATCGGAGCTCCAC 0.353000 8 356 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60689888 60689888 + Missense_Mutation SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:60689888T>G ENST00000582809.1 + 23 2471 c.1768T>G c.(1768-1770)Tca>Gca p.S590A TLK2_ENST00000346027.5_Missense_Mutation_p.S739A|TLK2_ENST00000326270.9_Missense_Mutation_p.S761A|TLK2_ENST00000542523.1_Missense_Mutation_p.S707A|TLK2_ENST00000343388.7_Missense_Mutation_p.S707A Q86UE8 TLK2_HUMAN tousled-like kinase 2 761 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TGCTATTGCATCAACCTCTGG 0.507000 13 269 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74171682 74171682 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:74171682G>A ENST00000498286.1 + 1 382 c.105G>A c.(103-105)ccG>ccA p.P35P MTO1_ENST00000415954.2_Silent_p.P35P|MTO1_ENST00000370300.4_Silent_p.P35P|MTO1_ENST00000370305.1_Intron Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 35 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 CCCGGACTCCGCACTTCGACG 0.647000 6 702 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52548769 52548769 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:52548769G>A ENST00000321725.6 + 35 3807 c.3731G>A c.(3730-3732)cGc>cAc p.R1244H NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1244 FAS1 4. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCCCTGGCCGCTCGCTGATT 0.662000 6 489 0 0 1 0 0 BAIAP2 10458 broad.mit.edu 37 17 79078379 79078379 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:79078379C>T ENST00000321300.6 + 10 1225 c.1132C>T c.(1132-1134)Cgg>Tgg p.R378W BAIAP2_ENST00000416299.2_Missense_Mutation_p.R241W|BAIAP2_ENST00000575245.1_Missense_Mutation_p.R411W|BAIAP2_ENST00000435091.3_Missense_Mutation_p.R378W|BAIAP2_ENST00000392411.3_Missense_Mutation_p.R300W|BAIAP2_ENST00000575712.1_Missense_Mutation_p.R378W|BAIAP2_ENST00000321280.7_Missense_Mutation_p.R378W|BAIAP2_ENST00000428708.2_Missense_Mutation_p.R378W NM_001144888.1|NM_017451.2 NP_001138360.1|NP_059345.1 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 378 SH3. axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGGCCGTATGCGGGTGAAGGC 0.642000 5 377 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 5 391 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:18844763T>C ENST00000412938.1 + 0 3013 TCACAGCCTCTGAGGGCAGCA 0.562000 3 50 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39818849 39818849 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:39818849C>A ENST00000564288.1 + 44 12147 c.11370C>A c.(11368-11370)taC>taA p.Y3790* MACF1_ENST00000372915.3_Nonsense_Mutation_p.Y3795*|MACF1_ENST00000545844.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000539005.1_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000289893.4_Nonsense_Mutation_p.Y2230*|MACF1_ENST00000361689.2_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000317713.7_Nonsense_Mutation_p.Y1728*|MACF1_ENST00000567887.1_Nonsense_Mutation_p.Y3827* Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3795 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGATGGTTACATGGGGGTGA 0.502000 5 259 0.184627 0.1854 1 1 0 CGREF1 10669 broad.mit.edu 37 2 27324303 27324303 + Missense_Mutation SNP C C T rs113949888 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:27324303C>T ENST00000402394.1 - 6 1064 c.796G>A c.(796-798)Gaa>Aaa p.E266K CGREF1_ENST00000312734.4_Missense_Mutation_p.E266K|CGREF1_ENST00000404694.3_Missense_Mutation_p.E388K|CGREF1_ENST00000405600.1_Missense_Mutation_p.E266K|CGREF1_ENST00000452318.2_Intron|CGREF1_ENST00000260595.5_Missense_Mutation_p.E249K|CGREF1_ENST00000402550.1_Intron NM_006569.5 NP_006560.3 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 258 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCATCTCCTTCAGCCTCTGCC 0.687000 7 830 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683951 100683951 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:100683951C>T ENST00000306151.4 + 3 9318 c.9254C>T c.(9253-9255)tCa>tTa p.S3085L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3085 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.S3085*(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAAGTCAGTTCATCTCCTACA 0.522000 70 1295 0 0 1 0 0 QDPR 5860 broad.mit.edu 37 4 17493886 17493886 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:17493886G>A ENST00000281243.5 - 5 693 c.514C>T c.(514-516)Ccg>Tcg p.P172S QDPR_ENST00000508623.1_Intron|QDPR_ENST00000428702.2_Missense_Mutation_p.P141S|QDPR_ENST00000513615.1_Intron NM_000320.2 NP_000311.2 P09417 DHPR_HUMAN quinoid dihydropteridine reductase 172 dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process cytosol 6,7-dihydropteridine reductase activity|binding|electron carrier activity autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 13 NADH(DB00157) GCCCCGGGCGGCATGCCGCTG 0.642000 5 339 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 10 240 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136575286 136575286 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:136575286G>A ENST00000264162.2 - 6 1342 c.1332C>T c.(1330-1332)tgC>tgT p.C444C NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 444 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CCCGGAGGCCGCAAAGCAGGG 0.647000 5 492 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38245543 38245543 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:38245543G>A ENST00000450525.2 + 9 1558 c.1067G>A c.(1066-1068)cGc>cAc p.R356H THRA_ENST00000394121.4_Missense_Mutation_p.R356H|THRA_ENST00000264637.4_Missense_Mutation_p.R356H|THRA_ENST00000546243.1_Missense_Mutation_p.R356H|THRA_ENST00000584985.1_Missense_Mutation_p.R356H NM_199334.3 NP_955366.1 P10827 THA_HUMAN thyroid hormone receptor, alpha 356 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GTCAACCACCGCAAACACAAC 0.597000 6 967 0 0 1 0 0 EIF3A 8661 broad.mit.edu 37 10 120802027 120802027 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:120802027G>A ENST00000369144.3 - 19 3132 c.3005C>T c.(3004-3006)gCc>gTc p.A1002V EIF3A_ENST00000541549.1_Missense_Mutation_p.A968V|EIF3A_ENST00000478852.1_Intron NM_003750.2 NP_003741.1 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, subunit A 1002 25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3) 56 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) GTCTTCATCGGCAATTCGTCT 0.567000 6 839 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152382520 152382520 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:152382520G>A ENST00000271835.3 - 3 1100 c.1038C>T c.(1036-1038)caC>caT p.H346H RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 346 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GTATCTGAGTGTGTCCTCCTG 0.597000 7 1021 0 0 1 0 0 DNM1L 10059 broad.mit.edu 37 12 32884346 32884346 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:32884346G>A ENST00000452533.2 + 11 1421 c.1257G>A c.(1255-1257)cgG>cgA p.R419R DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000547312.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000553257.1_Silent_p.R432R NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 419 Middle domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGTGAAGCGGCAAATCAAAC 0.418000 5 472 0 0 1 0 0 DCLRE1C 64421 broad.mit.edu 37 10 14976718 14976718 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:14976718T>C ENST00000453695.2 - 7 605 c.161A>G c.(160-162)tAc>tGc p.Y54C DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y59C|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y54C|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.Y174C|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y59C NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 174 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 TGGAATTTGGTAAAATCTTGG 0.398000 Non-homologous end-joining 39 674 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10465032 10465032 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:10465032C>T ENST00000382483.3 - 4 6799 c.6576G>A c.(6574-6576)gaG>gaA p.E2192E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2192 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TACCTTCTGACTCTGGCTGGG 0.612000 8 1571 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32632378 32632378 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:32632378G>A ENST00000242310.4 - 1 3289 c.3200C>T c.(3199-3201)gCc>gTc p.A1067V NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1067 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding p.A1067V(1) breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TGATCCACGGGCAAATTTACT 0.468000 8 734 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37456107 37456107 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:37456107C>T ENST00000234170.5 - 2 374 c.229G>A c.(229-231)Gat>Aat p.D77N NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 77 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TGAAGGTCATCGATTGCTCCT 0.358000 8 166 0 0 1 0 0 LTB4R 1241 broad.mit.edu 37 14 24785056 24785056 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:24785056G>A ENST00000396789.4 + 2 1924 c.199G>A c.(199-201)Gta>Ata p.V67I LTB4R_ENST00000345363.3_Missense_Mutation_p.V67I|LTB4R_ENST00000396782.2_Missense_Mutation_p.V67I NM_181657.3 NP_858043.1 Q15722 LT4R1_HUMAN leukotriene B4 receptor 67 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction integral to plasma membrane nucleotide binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1) 8 GBM - Glioblastoma multiforme(265;0.018) CGACCTGGCCGTATTGCTCAC 0.577000 7 869 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38948830 38948830 + Missense_Mutation SNP G G A rs144845360 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:38948830G>A ENST00000355481.4 + 18 2196 c.2065G>A c.(2065-2067)Gag>Aag p.E689K RYR1_ENST00000360985.3_Missense_Mutation_p.E689K|RYR1_ENST00000359596.3_Missense_Mutation_p.E689K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 689 B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCCCTCACCGAGGGCTACAC 0.627000 15 503 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31038886 31038886 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:31038886C>T ENST00000355537.3 + 4 2507 c.2360C>T c.(2359-2361)gCc>gTc p.A787V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 787 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.A787D(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TGTGACTATGCCGGCACGCAG 0.512000 6 542 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 266 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70823900 70823900 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:70823900G>A ENST00000373695.1 + 7 1310 c.773G>A c.(772-774)aGc>aAc p.S258N ACRC_ENST00000373696.3_Missense_Mutation_p.S258N Q96QF7 ACRC_HUMAN acidic repeat containing 258 Asp/Ser-rich. nucleus p.S258N(2) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CCCGACGACAGCAGTGATGAT 0.557000 8 711 0 0 1 0 0 KRTAP9-4 85280 broad.mit.edu 37 17 39406130 39406130 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:39406130G>A ENST00000334109.2 + 1 192 c.158G>A c.(157-159)cGc>cAc p.R53H NM_033191.2 NP_149461.2 Q9BYQ2 KRA94_HUMAN keratin associated protein 9-4 53 15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF]. keratin filament p.R53H(4) breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCTTGCTGCCGCCCAACTTGC 0.642000 8 343 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162340 90162340 + RNA SNP C C T rs138169571 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:90162340C>T ENST00000567960.1 + 0 1076 TUBB8P7_ENST00000564451.1_RNA p.R358W(1) CATCCCACTCCGGGGGCTAAA 0.478000 10 633 0 0 1 0 0 ZNF761 388561 broad.mit.edu 37 19 53958826 53958826 + RNA SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:53958826G>A ENST00000454407.1 + 0 1518 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) AACCTTACAAGTGTAATGAGT 0.418000 6 648 0 0 1 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601209 55601209 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:55601209G>A ENST00000457326.2 + 1 626 c.541G>A c.(541-543)Gca>Aca p.A181T LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 181 EF-hand 2. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 TCTGCAGGCCGCAGGCTTCCA 0.463000 6 546 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35793392 35793392 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:35793392G>A ENST00000440995.2 + 32 4671 c.4671G>A c.(4669-4671)aaG>aaA p.K1557K SPEF2_ENST00000303129.4_Silent_p.K359K|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.K1562K Q9C093 SPEF2_HUMAN sperm flagellar 2 1562 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGAAGTTCAAGGCTGTGGATA 0.507000 8 316 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625214 43625214 + Missense_Mutation SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:43625214T>G ENST00000332857.6 - 4 3501 c.3473A>C c.(3472-3474)cAc>cCc p.H1158P NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TTCTCCAAAGTGGCTTACTGA 0.433000 8 444 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563840 55563840 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:55563840G>A ENST00000335605.1 + 1 809 c.809G>A c.(808-810)cGg>cAg p.R270Q NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AAAAACTCTCGGCAAACAGTC 0.478000 4 264 0 0 1 0 0 PCGF1 84759 broad.mit.edu 37 2 74733907 74733907 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:74733907G>A ENST00000233630.6 - 3 1215 c.304C>T c.(304-306)Cgg>Tgg p.R102W PCGF1_ENST00000480844.2_5'UTR NM_032673.2 NP_116062.2 Q9BSM1 PCGF1_HUMAN polycomb group ring finger 1 102 Necessary for repressor activity.|No repressor activity. histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent PcG protein complex protein C-terminus binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2) 12 TGCATGACCCGGTCCAGTTTG 0.502000 6 457 0 0 1 0 0 EIF2D 1939 broad.mit.edu 37 1 206773158 206773158 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:206773158C>T ENST00000271764.2 - 9 1189 c.981G>A c.(979-981)gaG>gaA p.E327E EIF2D_ENST00000367114.3_Silent_p.E203E NM_006893.2 NP_008824.2 P41214 EIF2D_HUMAN eukaryotic translation initiation factor 2D 327 intracellular protein transport cytoplasm protein binding|receptor activity|translation initiation factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 GTATAATCTGCTCCTGCTGCA 0.547000 27 410 0 0 1 0 0 HIST1H1A 3024 broad.mit.edu 37 6 26017899 26017899 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:26017899C>T ENST00000244573.3 - 1 141 c.62G>A c.(61-63)gGc>gAc p.G21D NM_005325.3 NP_005316.1 Q02539 H11_HUMAN histone cluster 1, H1a 21 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1) 13 TGCCTTCTTGCCAGCTAAAGG 0.542000 OREG0017237 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 372 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784471 82784471 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:82784471A>G ENST00000423517.2 - 2 1823 c.1486T>C c.(1486-1488)Tca>Cca p.S496P PCLO_ENST00000333891.8_Missense_Mutation_p.S496P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 442 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S496P(6)|p.?(3) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGCTTTGCTGAGCCAGGCTGT 0.607000 13 954 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25510077 25510077 + Missense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:25510077C>A ENST00000376351.3 + 2 1358 c.999C>A c.(997-999)aaC>aaA p.N333K NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 333 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 GCCACCTCAACAATTCAGAGG 0.363000 13 216 0.000151284 0.000157862 1 1 0 AC093642.5 0 broad.mit.edu 37 2 243037115 243037115 + RNA SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:243037115A>G ENST00000456398.1 + 0 247 GGCTGGAAGAATTGTGAATCT 0.398000 7 391 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GCACGCACGCTTCCAGTGTGG 0.637000 9 498 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188592235 188592235 + Missense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:188592235G>T ENST00000312675.4 + 11 2053 c.1807G>T c.(1807-1809)Gtg>Ttg p.V603L LPP_ENST00000543006.1_Missense_Mutation_p.V603L NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 603 LIM zinc-binding 3. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) CCGCATCAGGGTGTTGACCGC 0.512000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 18 418 4.96729e-08 5.37004e-08 1 1 0 KCTD9 54793 broad.mit.edu 37 8 25293809 25293809 + Missense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:25293809C>A ENST00000221200.4 - 8 825 c.605G>T c.(604-606)cGa>cTa p.R202L NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 202 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) AAATTCCTTTCGGGATATTGG 0.378000 6 547 4.096e-09 4.46836e-09 1 1 0 ZNF845 91664 broad.mit.edu 37 19 53856694 53856694 + Silent SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:53856694A>G ENST00000458035.1 + 4 2883 c.2766A>G c.(2764-2766)aaA>aaG p.K922K ZNF845_ENST00000595091.1_Silent_p.K922K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 922 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 AGTGTGGCAAAACCTTCCGTC 0.358000 4 121 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220100575 220100575 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:220100575C>T ENST00000323348.5 + 12 2123 c.1949C>T c.(1948-1950)gCc>gTc p.A650V ANKZF1_ENST00000410034.3_Missense_Mutation_p.A650V|ANKZF1_ENST00000409849.1_Missense_Mutation_p.A440V NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 650 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGCGATTTGCCGCCCTCAGT 0.622000 7 807 0 0 1 0 0 TADA2B 93624 broad.mit.edu 37 4 7056454 7056454 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:7056454G>A ENST00000310074.7 + 2 1125 c.936G>A c.(934-936)cgG>cgA p.R312R TADA2B_ENST00000515646.1_Silent_p.R220R|TADA2B_ENST00000512388.1_Silent_p.R237R NM_152293.2 NP_689506.2 Q86TJ2 TAD2B_HUMAN transcriptional adaptor 2B 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|zinc ion binding p.R312R(1) breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 18 AGGCAGCGCGGCATAAACGGG 0.557000 5 316 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191731 152191731 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:152191731C>T ENST00000368801.2 - 3 2449 c.2374G>A c.(2374-2376)Ggc>Agc p.G792S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 792 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGTTGGCCGTGGCTGGAG 0.602000 10 292 0 0 1 0 0 PCDHGB4 0 broad.mit.edu 37 5 140768992 140768992 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:140768992C>T ENST00000519479.1 + 1 1541 c.1541C>T c.(1540-1542)gCg>gTg p.A514V PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTGTTCGCGCAGCGCGCC 0.667000 13 488 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A A G rs60608267 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:132547093A>G ENST00000333577.4 + 48 8398 c.8289A>G c.(8287-8289)caA>caG p.Q2763Q EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q|EP400_ENST00000389562.2_Silent_p.Q2726Q Q96L91 EP400_HUMAN E1A binding protein p400 2763 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(9) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 11 337 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296373 145296373 + Missense_Mutation SNP G G T rs3969711 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:145296373G>T ENST00000342960.5 + 3 330 c.295G>T c.(295-297)Gtt>Ttt p.V99F NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 99 p.V99F(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TAAAGTCCTAGTTCACTCTCA 0.473000 5 358 0.000673444 0.000693676 1 1 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128651 45128651 + RNA SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:45128651G>T ENST00000575173.1 - 0 418 ttgtttttttgttttttttAG 0.299000 6 270 3.09899e-07 3.33523e-07 1 1 0 GPR125 166647 broad.mit.edu 37 4 22414907 22414907 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:22414907G>A ENST00000334304.5 - 14 2399 c.2130C>T c.(2128-2130)aaC>aaT p.N710N GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 710 GPS. neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CTCCTTGTCCGTTCAGCAAAT 0.453000 6 786 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 9 168 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142481789 142481789 + RNA SNP T T C rs140267598 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:142481789T>C ENST00000603901.1 + 0 468 NR_001296.3 ACTACCCAGATGAGCTGCAGT 0.488000 10 268 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628320 29628320 + Nonsense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:29628320G>T ENST00000278882.3 + 6 702 c.322G>T c.(322-324)Gaa>Taa p.E108* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 AGGAGAAGAAGAAATGATCAA 0.373000 8 286 3.52763e-06 3.76281e-06 1 1 0 PCDHGA10 0 broad.mit.edu 37 5 140792948 140792948 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:140792948G>A ENST00000398610.2 + 1 206 c.206G>A c.(205-207)cGc>cAc p.R69H PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCGGAGTCCGCATAGTCTCC 0.607000 6 730 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090831 9090831 + Silent SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:9090831A>G ENST00000397910.4 - 1 1187 c.984T>C c.(982-984)ccT>ccC p.P328P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 328 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 TCATGGAAAAAGGGATAGCTG 0.522000 4 347 0 0 1 0 0 COG8 84342 broad.mit.edu 37 16 69368827 69368827 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:69368827C>T ENST00000306875.4 - 3 1124 c.1010G>A c.(1009-1011)gGc>gAc p.G337D COG8_ENST00000562081.1_Missense_Mutation_p.G337D NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 337 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 GCCGCCTATGCCCCGGTAAAG 0.582000 5 435 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791386 41791386 + Missense_Mutation SNP G G A rs148148486 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:41791386G>A ENST00000396930.3 - 18 4895 c.4352C>T c.(4351-4353)gCg>gTg p.A1451V KAT6A_ENST00000406337.1_Missense_Mutation_p.A1451V|KAT6A_ENST00000265713.2_Missense_Mutation_p.A1451V NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1451 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTGACACGCCGCAAGAGTTTC 0.527000 5 642 0 0 1 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897862 130897862 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:130897862C>T ENST00000392984.3 - 4 1815 c.1072G>A c.(1072-1074)Gca>Aca p.A358T CCDC74B_ENST00000310463.6_Missense_Mutation_p.A256T|CCDC74B_ENST00000409943.3_Missense_Mutation_p.A190T Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 256 endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) GGGGGGTGTGCCGCCGCCCCC 0.602000 7 920 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3982349 3982349 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:3982349G>A ENST00000309311.6 - 5 774 c.686C>T c.(685-687)gCc>gTc p.A229V NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 229 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ATACATCTCGGCAAACTGCTT 0.602000 5 366 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587708 43587708 + RNA SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:43587708A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA AACAACCACCATCTCCAAATC 0.348000 7 267 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24242948 24242948 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:24242948C>T ENST00000382263.3 + 9 1141 c.957C>T c.(955-957)aaC>aaT p.N319N TNFRSF19_ENST00000248484.4_Silent_p.N319N|TNFRSF19_ENST00000403372.2_Silent_p.N187N|TNFRSF19_ENST00000382258.4_Silent_p.N319N NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 319 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) GTGGTGACAACATCTCTTTTT 0.478000 33 616 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112357638 112357638 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:112357638G>A ENST00000206423.3 - 2 2068 c.1115C>T c.(1114-1116)gCt>gTt p.A372V CCDC80_ENST00000439685.2_Missense_Mutation_p.A372V NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 372 Thr-rich. breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 AGGTCTTGCAGCAACTGTTAC 0.642000 5 420 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127540897 127540897 + Missense_Mutation SNP G G A rs143704757 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:127540897G>A ENST00000284690.3 - 6 1806 c.1316C>T c.(1315-1317)gCg>gTg p.A439V DHX32_ENST00000284688.6_Missense_Mutation_p.A358V|BCCIP_ENST00000368759.5_Intron|DHX32_ENST00000368721.1_Missense_Mutation_p.A63V NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 439 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) GCCTAGGCCCGCAATGTCTAT 0.498000 5 228 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7111053 7111053 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:7111053G>A ENST00000306904.5 + 1 889 c.702G>A c.(700-702)tcG>tcA p.S234S NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 234 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTGCCCCCTCGCCCGGAGAGT 0.687000 11 163 0 0 1 0 0 PTCH2 8643 broad.mit.edu 37 1 45307637 45307637 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:45307637G>A ENST00000447098.2 - 2 158 c.147C>T c.(145-147)tgC>tgT p.C49C PTCH2_ENST00000372192.3_Silent_p.C49C NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 49 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity p.C49C(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) TCTGGATCCCGCATCCCAGAG 0.557000 Basal Cell Nevus syndrome 7 678 0 0 1 0 0 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 10 776 0.0135373 0.013651 1 1 0 DPP4 1803 broad.mit.edu 37 2 162875264 162875264 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:162875264C>T ENST00000360534.3 - 16 1955 c.1395G>A c.(1393-1395)gcG>gcA p.A465A NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 465 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.A465A(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) GATAATACTTCGCCTCTTTAC 0.473000 15 338 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 7 212 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 15 240 0 0 1 0 0 DRAP1 10589 broad.mit.edu 37 11 65687891 65687891 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:65687891A>G ENST00000312515.2 + 4 532 c.287A>G c.(286-288)gAc>gGc p.D96G DRAP1_ENST00000376991.2_Missense_Mutation_p.D96G|DRAP1_ENST00000527119.1_Missense_Mutation_p.D52G|DRAP1_ENST00000532933.1_Missense_Mutation_p.D76G NM_006442.3 NP_006433.2 Q14919 NC2A_HUMAN DR1-associated protein 1 (negative cofactor 2 alpha) 96 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1) 5 READ - Rectum adenocarcinoma(159;0.166) ATGCAGGGGGACGGGGAAGAC 0.637000 6 680 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54392899 54392899 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:54392899G>A ENST00000263431.3 + 4 575 c.293G>A c.(292-294)cGg>cAg p.R98Q PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.R98Q|PRKCG_ENST00000536044.1_Missense_Mutation_p.R98Q NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 98 activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) CAGGACCCCCGGAACAAACAC 0.602000 9 248 0 0 1 0 0 FRG1 2483 broad.mit.edu 37 4 190878646 190878646 + Nonsense_Mutation SNP G G T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:190878646G>T ENST00000226798.4 + 6 748 c.526G>T c.(526-528)Gaa>Taa p.E176* FRG1_ENST00000514482.1_3'UTR NM_004477.2 NP_004468.1 Q14331 FRG1_HUMAN FSHD region gene 1 176 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus p.E176*(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1) 32 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGGAGAAGAAGAAATGATCAA 0.373000 11 245 2.31682e-05 2.4495e-05 1 1 0 ZNF99 7652 broad.mit.edu 37 19 22940429 22940429 + Missense_Mutation SNP C C G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:22940429C>G ENST00000397104.3 - 5 2008 c.2009G>C c.(2008-2010)tGc>tCc p.C670S ZNF99_ENST00000596209.1_Missense_Mutation_p.C761S zinc finger protein 99 p.C670S(1) 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) TTCACATTTGCAGGGTTTCTC 0.358000 8 209 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222696153 222696153 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:222696153G>A ENST00000343410.6 - 9 2023 c.1965C>T c.(1963-1965)ggC>ggT p.G655G HHIPL2_ENST00000473144.1_5'UTR NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 655 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) CCTGGGCTGGGCCAGAAGCTA 0.458000 6 793 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. 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 CACCCACCACCCCCAAGGAGC 0.637000 6 784 0 0 1 0 0 AC018462.2 0 broad.mit.edu 37 2 62373942 62373942 + RNA SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:62373942C>A ENST00000425966.2 - 0 74 AC018462.2_ENST00000421323.1_RNA AACCTACCTACCATTGCGCTG 0.537000 5 355 1 1 1 1 0 SLC35G3 146861 broad.mit.edu 37 17 33520392 33520392 + Missense_Mutation SNP G G C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:33520392G>C ENST00000297307.5 - 1 1020 c.935C>G c.(934-936)gCg>gGg p.A312G NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 312 DUF6 2. integral to membrane p.A312G(4) AACCCCTGCCGCCACGATGTC 0.567000 8 660 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283271 63283271 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:63283271C>T ENST00000366671.3 + 5 1161 c.885C>T c.(883-885)caC>caT p.H295H OTX1_ENST00000282549.2_Silent_p.H295H NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 295 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccaccatcaccacc 0.637000 10 402 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38913712 38913712 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:38913712C>T ENST00000302328.3 - 20 3665 c.3467G>A c.(3466-3468)cGt>cAt p.R1156H SCN11A_ENST00000456224.3_Missense_Mutation_p.R1118H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R1156H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1156H NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1156 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GGACAGCGCACGAAGAGGCCT 0.463000 8 703 0 0 1 0 0 ARF3 377 broad.mit.edu 37 12 49334797 49334797 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:49334797C>T ENST00000256682.4 - 2 416 c.82G>A c.(82-84)Gca>Aca p.A28T ARF3_ENST00000447318.2_Missense_Mutation_p.A28T|ARF3_ENST00000398092.4_Missense_Mutation_p.A28T|ARF3_ENST00000541959.1_Missense_Mutation_p.A28T NM_001659.2 NP_001650.1 P61204 ARF3_HUMAN ADP-ribosylation factor 3 28 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity endometrium(1)|lung(2)|skin(1) 4 GTCTTTCCTGCGGCATCCAGG 0.527000 8 831 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058168 11058168 + RNA SNP A A T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:11058168A>T ENST00000470054.1 - 0 479 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TACATCTTTCAGGAGCTTGGT 0.388000 8 396 0 0 1 0 0 ZNF354B 117608 broad.mit.edu 37 5 178293259 178293259 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:178293259C>T ENST00000322434.3 + 3 274 c.48C>T c.(46-48)ttC>ttT p.F16F NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CACTGACATTCGAGGACGTGG 0.557000 7 306 0 0 1 0 0 BDH2 56898 broad.mit.edu 37 4 104000881 104000881 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:104000881A>G ENST00000296424.4 - 10 836 c.716T>C c.(715-717)aTt>aCt p.I239T NM_020139.3 NP_064524.3 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 239 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) GCCTCCATCAATGATGACAGG 0.438000 4 263 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 9 532 0 0 1 0 0 KCNN3 3782 broad.mit.edu 37 1 154841843 154841843 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:154841843C>A ENST00000271915.3 - 1 913 c.598G>T c.(598-600)Gag>Tag p.E200* NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 205 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) GTCTCGGCCTCGATGAGGTTC 0.637000 7 448 0.00198382 0.00201744 1 1 0 NRAP 4892 broad.mit.edu 37 10 115374632 115374632 + Missense_Mutation SNP T T A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:115374632T>A ENST00000369358.4 - 28 3420 c.3176A>T c.(3175-3177)cAa>cTa p.Q1059L NRAP_ENST00000369360.3_Missense_Mutation_p.Q1024L|NRAP_ENST00000359988.3_Missense_Mutation_p.Q1051L|NRAP_ENST00000360478.3_Missense_Mutation_p.Q1016L Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1051 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTTTGCTGCTTGGAATGGAAG 0.468000 8 279 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146575 70146575 + Missense_Mutation SNP T T A rs145538643 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146575T>A ENST00000335568.5 + 1 359 c.357T>A c.(355-357)ttT>ttA p.F119L UGT2B28_ENST00000511240.1_Missense_Mutation_p.F119L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 119 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TGTGGGAATTTCATGACATAT 0.303000 6 439 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49224974 49224974 + Missense_Mutation SNP G G C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:49224974G>C ENST00000308025.3 - 16 2269 c.2190C>G c.(2188-2190)atC>atG p.I730M NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 730 Helicase C-terminal. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 ACACATCTTGGATGTCAATAC 0.468000 6 746 0 0 1 0 0 CFD 1675 broad.mit.edu 37 19 861750 861750 + Missense_Mutation SNP C C T rs139666945 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:861750C>T ENST00000327726.6 + 4 646 c.409C>T c.(409-411)Cgc>Tgc p.R137C CFD_ENST00000592860.1_Missense_Mutation_p.R144C NM_001928.2 NP_001919.2 P00746 CFAD_HUMAN complement factor D (adipsin) 137 Peptidase S1. complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis platelet alpha granule lumen serine-type endopeptidase activity Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCCCTGGCAGCGCGTGGACCG 0.731000 6 96 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578404 7578404 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:7578404A>C ENST00000420246.2 - 5 658 c.526T>G c.(526-528)Tgc>Ggc p.C176G TP53_ENST00000359597.4_Missense_Mutation_p.C176G|TP53_ENST00000413465.2_Missense_Mutation_p.C176G|TP53_ENST00000445888.2_Missense_Mutation_p.C176G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176G|TP53_ENST00000455263.2_Missense_Mutation_p.C176G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 176 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TGGTGGGGGCAGCGCCTCACA 0.647000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 12 342 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111912 57111912 + Silent SNP G G A rs2926744 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:57111912G>A ENST00000454682.1 - 3 3683 c.3402C>T c.(3400-3402)ccC>ccT p.P1134P NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CTTTTGGGGAGGGAGGAGTTG 0.642000 T BCL6 NHL 6 649 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 5 453 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422752 26422752 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:26422752G>A ENST00000335473.7 + 43 7062 c.6812G>A c.(6811-6813)gGc>gAc p.G2271D MYO18B_ENST00000536101.1_Missense_Mutation_p.G2271D|MYO18B_ENST00000407587.2_Missense_Mutation_p.G2272D NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2271 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TCCACGCTGGGCCTAGAGGAC 0.647000 6 49 0 0 1 0 0 EXOSC4 54512 broad.mit.edu 37 8 145134931 145134931 + Missense_Mutation SNP G G A rs139537728 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:145134931G>A ENST00000316052.5 + 2 360 c.257G>A c.(256-258)cGc>cAc p.R86H EXOSC4_ENST00000525936.1_Intron NM_019037.2 NP_061910.1 Q9NPD3 EXOS4_HUMAN exosome component 4 86 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding lung(4)|prostate(1)|upper_aerodigestive_tract(2) 7 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACAGGTGAGCGCAAGCGACGG 0.622000 6 638 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101972217 101972217 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:101972217C>T ENST00000543253.1 + 5 3339 c.2420C>T c.(2419-2421)cCg>cTg p.P807L GPRASP2_ENST00000535209.1_Missense_Mutation_p.P807L|GPRASP2_ENST00000332262.5_Missense_Mutation_p.P807L NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AGTCTTGAGCCGCTTATTTCT 0.318000 23 816 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:146059006G>A ENST00000454497.2 - 21 2863 c.2726C>T c.(2725-2727)aCt>aTt p.T909I OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 973 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463000 6 739 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156816395 156816395 + Missense_Mutation SNP G G A rs66777388 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:156816395G>A ENST00000368195.3 - 8 2122 c.1726C>T c.(1726-1728)Cgg>Tgg p.R576W NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 576 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) GTGATGGCCCGCACAAACACT 0.617000 5 324 0 0 1 0 0 ACVR2A 92 broad.mit.edu 37 2 148657443 148657443 + Nonsense_Mutation SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:148657443C>A ENST00000241416.7 + 4 1140 c.504C>A c.(502-504)taC>taA p.Y168* ACVR2A_ENST00000404590.1_Nonsense_Mutation_p.Y168*|ACVR2A_ENST00000535787.1_Nonsense_Mutation_p.Y60*|AC009480.3_ENST00000402410.2_RNA NM_001278579.1|NM_001278580.1|NM_001616.3 NP_001265508.1|NP_001265509.1|NP_001607.1 P27037 AVR2A_HUMAN activin A receptor, type IIA 168 activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8) 45 BRCA - Breast invasive adenocarcinoma(221;0.0969) AGATGGCCTACCCTCCTGTAC 0.388000 20 526 2.37509e-13 2.62683e-13 1 1 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 7 509 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554535 85554535 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:85554535C>T ENST00000377386.3 - 2 782 c.320G>A c.(319-321)gGc>gAc p.G107D TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Missense_Mutation_p.G107D|TGOLN2_ENST00000444342.2_Missense_Mutation_p.G107D|TGOLN2_ENST00000409015.1_Missense_Mutation_p.G107D|TGOLN2_ENST00000398263.2_Missense_Mutation_p.G107D O43493 TGON2_HUMAN trans-golgi network protein 2 107 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding GCTAGTGCTGCCTTTTTGGGT 0.567000 13 2625 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16634068 16634068 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:16634068C>T ENST00000546361.2 - 11 1926 c.1775G>A c.(1774-1776)cGc>cAc p.R592H CHERP_ENST00000544299.1_5'UTR|CHERP_ENST00000198939.6_Missense_Mutation_p.R603H|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 592 Pro-rich. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 ATGAGGCATGCGGTGGCCAGG 0.652000 6 589 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D 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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 96 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26693012 26693012 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:26693012C>T ENST00000529632.2 + 4 1324 c.1128C>T c.(1126-1128)gaC>gaT p.D376D SEZ6L_ENST00000404234.3_Silent_p.D376D|SEZ6L_ENST00000403121.1_Silent_p.D149D|SEZ6L_ENST00000343706.4_Silent_p.D376D|SEZ6L_ENST00000360929.3_Silent_p.D376D|SEZ6L_ENST00000402979.1_Silent_p.D149D|SEZ6L_ENST00000248933.6_Silent_p.D376D NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 376 CUB 1. endoplasmic reticulum membrane|integral to membrane p.D376D(2) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCTTCCAGGACGACGGCCTTG 0.577000 5 220 0 0 1 0 0 AC005562.1 0 broad.mit.edu 37 17 28961033 28961033 + RNA SNP T T G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:28961033T>G ENST00000417404.1 + 0 1291 LRRC37BP1_ENST00000412831.1_RNA|SMURF2P1_ENST00000578265.1_RNA AGTTCCAGGATATGACTATAA 0.264000 4 159 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373000 7 1107 0 0 1 0 0 RRH 10692 broad.mit.edu 37 4 110756591 110756591 + Nonsense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:110756591C>T ENST00000317735.4 + 3 401 c.367C>T c.(367-369)Cga>Tga p.R123* NM_006583.2 NP_006574.1 O14718 OPSX_HUMAN retinal pigment epithelium-derived rhodopsin homolog 123 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) GGCTGTGGACCGATACCTGAC 0.393000 26 309 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161168 90161168 + RNA SNP T T G rs8055740 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:90161168T>G ENST00000567960.1 + 0 277 TUBB8P7_ENST00000564451.1_RNA CCTCCTGTCCTCCGAGTCGAG 0.622000 12 23 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 13 340 0 0 1 0 0 KRTAP10-5 386680 broad.mit.edu 37 21 45999774 45999774 + Missense_Mutation SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:45999774T>C ENST00000400372.1 - 1 707 c.682A>G c.(682-684)Ata>Gta p.I228V TSPEAR_ENST00000323084.4_Intron NM_198694.2 NP_941967.2 P60370 KR105_HUMAN keratin associated protein 10-5 228 22 X 5 AA repeats of C-C-X(3). keratin filament p.I228V(1) endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 14 GGCCTGCATATGGGGCGGCAG 0.682000 6 634 0 0 1 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839741 27839741 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:27839741A>C ENST00000328488.2 - 1 358 c.353T>G c.(352-354)gTc>gGc p.V118G NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 118 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CATAATAGTGACGCGTTTGGC 0.567000 47 789 0 0 1 0 0 SMTN 6525 broad.mit.edu 37 22 31487093 31487093 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:31487093G>A ENST00000333137.7 + 10 1302 c.1084G>A c.(1084-1086)Gca>Aca p.A362T SMTN_ENST00000358743.1_Missense_Mutation_p.A362T|SMTN_ENST00000347557.2_Missense_Mutation_p.A362T NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 362 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 CCTGACCCCCGCAAGGCTCCT 0.647000 7 571 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285788 16285788 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:16285788C>T ENST00000302182.3 + 2 959 c.567C>T c.(565-567)ccC>ccT p.P189P UBB_ENST00000395839.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395837.1_Silent_p.P189P NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 189 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding p.P189P(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) AAGGCATCCCCCCCGACCAGC 0.552000 5 340 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:153134383G>A ENST00000370060.1 - 12 1481 c.1292C>T c.(1291-1293)gCg>gTg p.A431V L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 431 Ig-like C2-type 5. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGATTGTCCGCAGTCAGGAT 0.617000 6 494 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186024700 186024700 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:186024700C>T ENST00000271588.4 + 45 7267 c.7038C>T c.(7036-7038)caC>caT p.H2346H HMCN1_ENST00000367492.2_Silent_p.H2346H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2346 Ig-like C2-type 21. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGAAGGTCACATCCTTCAGC 0.453000 20 392 0 0 1 0 0 KCNJ4 3761 broad.mit.edu 37 22 38824115 38824115 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:38824115C>T ENST00000303592.3 - 2 281 c.23G>A c.(22-24)gGc>gAc p.G8D NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 8 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGCCTGGCCGTTGCGGCT 0.657000 8 1532 0 0 1 0 0 ZNF277 11179 broad.mit.edu 37 7 111926929 111926929 + Splice_Site SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:111926929C>T ENST00000421043.1 + 2 113 c.91_splice c.e2-1 p.D31_splice ZNF277_ENST00000361822.3_Splice_Site_p.D31_splice|ZNF277_ENST00000450657.1_Splice_Site_p.D31_splice Q9NRM2 ZN277_HUMAN zinc finger protein 277 31 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 15 CTATTCCAGACAGTAAGGATT 0.408000 4 108 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242451663 242451663 + Splice_Site SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:242451663C>T ENST00000442594.2 - 4 729 c.e4+1 PLD5_ENST00000536534.1_Splice_Site|PLD5_ENST00000427495.1_Splice_Site NM_152666.2 NP_689879.2 Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) ATGTAGCTTACCTGACATGCT 0.413000 23 459 0 0 1 0 0 CACNG1 786 broad.mit.edu 37 17 65051326 65051326 + Nonsense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:65051326C>T ENST00000226021.3 + 3 483 c.412C>T c.(412-414)Cga>Tga p.R138* NM_000727.3 NP_000718.1 Q06432 CCG1_HUMAN calcium channel, voltage-dependent, gamma subunit 1 138 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 8 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) CTATCTGCTGCGACCCGCGTC 0.637000 6 309 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62839350 62839350 + Silent SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:62839350G>A ENST00000536311.1 + 7 1165 c.801G>A c.(799-801)gaG>gaA p.E267E MYT1_ENST00000328439.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 267 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) aggaggaggaggaagaggagg 0.577000 4 80 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50095912 50095912 + Missense_Mutation SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:50095912A>G ENST00000443081.1 + 10 2570 c.1651A>G c.(1651-1653)Act>Gct p.T551A RBM6_ENST00000266022.4_Missense_Mutation_p.T683A|RBM6_ENST00000539992.1_Missense_Mutation_p.T25A|RBM6_ENST00000422955.1_Missense_Mutation_p.T161A|RBM6_ENST00000442092.1_Missense_Mutation_p.T161A|RBM6_ENST00000441115.1_3'UTR P78332 RBM6_HUMAN RNA binding motif protein 6 683 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TGTCCGCCTTACTACTGCCAA 0.498000 48 610 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1480921 1480921 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:1480921G>A ENST00000345913.4 + 8 974 c.883G>A c.(883-885)Gcc>Acc p.A295T TPO_ENST00000382201.3_Missense_Mutation_p.A295T|TPO_ENST00000382198.1_Intron|TPO_ENST00000349624.3_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.A295T|TPO_ENST00000337415.3_Missense_Mutation_p.A295T|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.A295T NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 295 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTCTTCGGCCGCCTGCGGCAC 0.706000 10 103 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146576 70146576 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:70146576C>T ENST00000335568.5 + 1 360 c.358C>T c.(358-360)Cat>Tat p.H120Y UGT2B28_ENST00000511240.1_Missense_Mutation_p.H120Y NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 120 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GTGGGAATTTCATGACATATT 0.303000 6 441 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 5 336 8.12818e-05 8.51862e-05 1 1 0 ST18 9705 broad.mit.edu 37 8 53028835 53028835 + Splice_Site SNP C C A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:53028835C>A ENST00000276480.7 - 25 3686 c.3003_splice c.e25+1 p.M1001_splice NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 1001 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TTGAACTTACCATCTGTGGAA 0.478000 12 398 6.72482e-11 7.36967e-11 1 1 0 FAM47C 442444 broad.mit.edu 37 X 37028134 37028134 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:37028134C>T ENST00000358047.3 + 1 1703 c.1651C>T c.(1651-1653)Cct>Tct p.P551S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 551 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCAGAGCCTCCTGAGACTGG 0.617000 7 757 0 0 1 0 0 LSM2 57819 broad.mit.edu 37 6 31765568 31765568 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:31765568G>A ENST00000375661.5 - 5 480 c.254C>T c.(253-255)gCg>gTg p.A85V LSM2_ENST00000491421.1_5'UTR NM_021177.4 NP_067000.1 Q9Y333 LSM2_HUMAN LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae) 85 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytosol|nucleoplasm U6 snRNA binding large_intestine(1)|lung(1) 2 CTTCCTTGCCGCATCCTGTAG 0.542000 7 941 0 0 1 0 0 PANX1 24145 broad.mit.edu 37 11 93913034 93913034 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:93913034G>A ENST00000227638.3 + 4 1197 c.812G>A c.(811-813)gGc>gAc p.G271D PANX1_ENST00000436171.2_Missense_Mutation_p.G271D NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 271 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATTGCCGTGGGCATCTTCCAG 0.502000 6 778 0 0 1 0 0 ATP11A 23250 broad.mit.edu 37 13 113487219 113487219 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:113487219G>A ENST00000487903.1 + 14 1529 c.1441G>A c.(1441-1443)Gtc>Atc p.V481I ATP11A_ENST00000283558.8_Missense_Mutation_p.V481I|ATP11A_ENST00000375630.2_Missense_Mutation_p.V481I|ATP11A_ENST00000375645.3_Missense_Mutation_p.V481I P98196 AT11A_HUMAN ATPase, class VI, type 11A 481 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) CTGCCACACCGTCCAGGTGAA 0.582000 7 1322 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285638 16285638 + Silent SNP G G A rs144617200 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:16285638G>A ENST00000302182.3 + 2 809 c.417G>A c.(415-417)aaG>aaA p.K139K UBB_ENST00000395839.1_Silent_p.K139K|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.K139K NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 139 Ubiquitin-like 2. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) ACATCCAGAAGGAGTCGACCC 0.567000 5 463 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 445 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136615535 136615535 + Missense_Mutation SNP G G A rs138808270 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:136615535G>A ENST00000264156.2 - 10 1462 c.1402C>T c.(1402-1404)Cgg>Tgg p.R468W MCM6_ENST00000492091.1_Intron NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 468 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) ACTTGATCCCGCACGTCCATC 0.428000 6 733 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371421 240371421 + Silent SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:240371421C>T ENST00000319653.9 + 5 3539 c.3309C>T c.(3307-3309)ccC>ccT p.P1103P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1103 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1246P(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTACCCGGAGTGGGCA 0.736000 6 273 0 0 1 0 0 ZCCHC9 84240 broad.mit.edu 37 5 80607084 80607084 + Missense_Mutation SNP A A C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:80607084A>C ENST00000254037.2 + 4 3838 c.683A>C c.(682-684)gAa>gCa p.E228A ZCCHC9_ENST00000438268.2_Missense_Mutation_p.E228A|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.E228A|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.E228A Q8N567 ZCHC9_HUMAN zinc finger, CCHC domain containing 9 228 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1) 13 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34) GATTGCCCTGAAAGTCAGAAT 0.413000 6 1039 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 11 427 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15935762 15935762 + Missense_Mutation SNP G G A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:15935762G>A ENST00000268712.3 - 46 7428 c.7171C>T c.(7171-7173)Cgg>Tgg p.R2391W NCOR1_ENST00000395857.3_Missense_Mutation_p.R975W|NCOR1_ENST00000395851.1_Missense_Mutation_p.R2288W NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2391 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding p.R2391W(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CTGAGCATCCGCATAGTCAGA 0.468000 5 380 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283274 63283274 + Silent SNP T T C TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:63283274T>C ENST00000366671.3 + 5 1164 c.888T>C c.(886-888)caT>caC p.H296H OTX1_ENST00000282549.2_Silent_p.H296H NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 296 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) accaccaccatcaccaccacc 0.642000 9 382 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 13 205 0 0 1 0 0 PTGES2 80142 broad.mit.edu 37 9 130885345 130885345 + Missense_Mutation SNP C C T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:130885345C>T ENST00000338961.6 - 5 1499 c.755G>A c.(754-756)cGc>cAc p.R252H PTGES2_ENST00000277462.5_Missense_Mutation_p.R61H|PTGES2_ENST00000483625.1_5'UTR NM_001256335.1|NM_025072.6 NP_001243264.1|NP_079348.1 Q9H7Z7 PGES2_HUMAN prostaglandin E synthase 2 252 cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 GGTGGGCGTGCGGTACACATT 0.657000 5 353 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16948524 16948526 + RNA DEL GCA GCA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:16948524_16948526delGCA ENST00000412962.1 - 0 1000 CGCTCAGCCTGCACCAGCTTCTG 0.616 49 397 --- --- --- --- CCDC28B 79140 broad.mit.edu 37 1 32670247 32670248 + Frame_Shift_Del DEL TG TG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:32670247_32670248delTG ENST00000421922.2 + 5 674_675 c.574_575delTG c.(574-576)tfs p.C192fs CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron Q9BUN5 CC28B_HUMAN coiled-coil domain containing 28B 0 large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AACCCGTCTATGTGTGTGTGTT 0.500 8 898 --- --- --- --- SLC6A9 6536 broad.mit.edu 37 1 44489938 44489938 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:44489938delT ENST00000372310.3 - 2 177 c.12delA c.(10-12)aafs p.K4fs SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000475075.2_5'UTR NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 335 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CTTTGGCACCTTTTCCTACCA 0.627 9 1824 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 12 271 --- --- --- --- CLCA4 22802 broad.mit.edu 37 1 87029432 87029432 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:87029432delA ENST00000370563.3 + 4 579 c.537delA c.(535-537)tcfs p.S179fs CLCA4_ENST00000263723.5_5'UTR NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 179 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) GTGCTAAGTCAAAAAAAATCG 0.403 10 283 --- --- --- --- GBP1P1 0 broad.mit.edu 37 1 89887469 89887469 + RNA DEL G G - rs72379362 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:89887469delG ENST00000513638.1 + 0 557 NR_003133.2 ctgtatttctgaaaaaaaaaa 0.318 5 8 --- --- --- --- TRIM33 51592 broad.mit.edu 37 1 114968116 114968118 + In_Frame_Del DEL TGT TGT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:114968116_114968118delTGT ENST00000358465.2 - 9 1731_1733 c.1648_1650delACA c.(1648-1650)del p.T550del TRIM33_ENST00000369543.2_In_Frame_Del_p.T550del|TRIM33_ENST00000450349.2_In_Frame_Del_p.T158del NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 550 Poly-Thr. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATGCTGTTGTGTTGTTGTTGTT 0.429 T RET papillary thyroid 7 1251 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121116645 121116645 + RNA DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:121116645delT ENST00000437515.1 - 0 329 CAAGCCCCCCTTTAAAAAAAA 0.393 11 244 --- --- --- --- PVRL4 81607 broad.mit.edu 37 1 161044057 161044059 + In_Frame_Del DEL CAC CAC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:161044057_161044059delCAC ENST00000368012.3 - 6 1407_1409 c.1105_1107delGTG c.(1105-1107)del p.V369del PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 369 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGACATGAGCACCACCACCACC 0.571 11 561 --- --- --- --- ZC3H11A 9877 broad.mit.edu 37 1 203816503 203816504 + Frame_Shift_Ins INS - - A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:203816503_203816504insA ENST00000545588.1 + 12 5061_5062 c.1234_1235insA c.(1234-1236)aaafs p.K412fs ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.K412fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.K412fs NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 412 E -> K (in Ref. 3; CAH10525). nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GGTCCTGGCTGAAAAAAAACAT 0.386 10 277 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226567647 226567647 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr1:226567647delT ENST00000366794.5 - 10 1662 c.1519delA c.(1519-1521)gcfs p.S507fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 507 Automodification domain. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) TGGCCCTTGCTTTTTTTGGAG 0.607 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 7 923 --- --- --- --- KIF3C 3797 broad.mit.edu 37 2 26203464 26203466 + In_Frame_Del DEL GTT GTT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:26203464_26203466delGTT ENST00000264712.3 - 1 1900_1902 c.1321_1323delAAC c.(1321-1323)del p.N441del KIF3C_ENST00000405914.1_In_Frame_Del_p.N441del NM_002254.6 NP_002245.4 O14782 KIF3C_HUMAN kinesin family member 3C 441 Poly-Asn. blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCGGGCGGTGGTTGTTGTTGTTG 0.621 10 891 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 17 462 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39213243 39213243 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:39213243delT ENST00000426016.1 - 24 3810 c.3724delA c.(3724-3726)gtfs p.S1242fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1242 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) CCATGGTCACTTTTTTTGCCC 0.517 Noonan syndrome 10 471 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39222520 39222520 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:39222520delT ENST00000426016.1 - 21 3176 c.3090delA c.(3088-3090)aafs p.K1030fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.K1030fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.K1030fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1030 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) GATAGCTATATTTTTTTGGCT 0.388 Noonan syndrome 7 444 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887904 91887905 + RNA INS - - T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:91887904_91887905insT ENST00000436174.1 - 0 540 AGCTATTTTCCATTTTTTTTTT 0.292 8 225 --- --- --- --- TEKT4 150483 broad.mit.edu 37 2 95539829 95539830 + Frame_Shift_Ins INS - - G rs149873671 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:95539829_95539830insG ENST00000295201.4 + 3 826_827 c.689_690insG c.(688-690)ctafs p.L230fs AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 230 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.P230P(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 CAGGCTCATCCGTACTCCACCA 0.663 8 544 --- --- --- --- SLC20A1 6574 broad.mit.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:113416607_113416608delAG ENST00000272542.3 + 7 1523_1524 c.984_985delAG c.(982-987)ccagfs p.PE328fs SLC20A1_ENST00000480984.1_3'UTR NM_005415.4 NP_005406.3 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate transporter), member 1 328 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity p.R332fs*14(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGAAGCTCCAGAGAGAGAGAG 0.515 10 392 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs RP11-724O16.1_ENST00000513963.1_Intron|BBS5_ENST00000554017.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 10 751 --- --- --- --- FAM134A 79137 broad.mit.edu 37 2 220046969 220046969 + Frame_Shift_Del DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:220046969delC ENST00000430297.2 + 9 1386 c.1250delC c.(1249-1251)tcfs p.S417fs NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 417 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGGCAGGGTCCCCCCCAGAT 0.602 7 1101 --- --- --- --- SLC4A3 6508 broad.mit.edu 37 2 220496799 220496801 + In_Frame_Del DEL GAA GAA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr2:220496799_220496801delGAA ENST00000358055.3 + 7 1433_1435 c.921_923delGAA c.(919-924)agg>ag p.RK307del SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 307 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCTTCGCAGGAAGAAGAAGAAG 0.650 9 457 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 13 320 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 11 1102 --- --- --- --- TRMT10C 54931 broad.mit.edu 37 3 101284009 101284009 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:101284009delA ENST00000309922.6 + 2 538 c.384delA c.(382-384)gcfs p.A128fs NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) CTAACACAGCaaaaaaaaaat 0.343 11 196 --- --- --- --- KIAA1407 57577 broad.mit.edu 37 3 113699548 113699548 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:113699548delT ENST00000295878.3 - 14 2402 c.2256delA c.(2254-2256)aafs p.K752fs KIAA1407_ENST00000545063.1_3'UTR NM_020817.1 NP_065868.1 Q8NCU4 K1407_HUMAN KIAA1407 752 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 GCTCTAGACCTTTTTTCCTTA 0.408 8 932 --- --- --- --- GOLIM4 27333 broad.mit.edu 37 3 167747642 167747644 + In_Frame_Del DEL CTG CTG - rs61743912 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:167747642_167747644delCTG ENST00000470487.1 - 10 2046_2048 c.1357_1359delCAG c.(1357-1359)del p.Q453del GOLIM4_ENST00000309027.4_In_Frame_Del_p.Q425del NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 453 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTCTTGCCACctgctgctgctgc 0.640 7 296 --- --- --- --- MB21D2 151963 broad.mit.edu 37 3 192516280 192516280 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:192516280delT ENST00000392452.2 - 2 1691 c.1371delA c.(1369-1371)aafs p.K457fs NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 457 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 GCTGCTGCAGTTTTTTTGCCA 0.512 7 844 --- --- --- --- TNK2 10188 broad.mit.edu 37 3 195595228 195595229 + Frame_Shift_Ins INS - - G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr3:195595228_195595229insG ENST00000333602.6 - 12 2512_2513 c.1895_1896insC c.(1894-1896)cccfs p.P632fs TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 632 Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) CATAGGCGGGCGGGGGGGGCAG 0.728 8 580 --- --- --- --- TMEM175 84286 broad.mit.edu 37 4 946206 946207 + Frame_Shift_Del DEL TG TG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:946206_946207delTG ENST00000264771.4 + 7 615_616 c.430_431delTG c.(430-432)tfs p.C144fs TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 144 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CTTCTTGTTCTGTGTGTGTGTG 0.515 8 1133 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430398 3430399 + Frame_Shift_Ins INS - - A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:3430398_3430399insA ENST00000336727.3 + 16 4429_4430 c.3525_3526insA c.(3523-3528)ggaaaafs p.GK1175fs RGS12_ENST00000382788.3_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000338806.4_Frame_Shift_Ins_p.GK527fs|RGS12_ENST00000344733.5_Frame_Shift_Ins_p.GK1175fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1175 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAAAGATTGGGAAAAAAAAATA 0.332 8 331 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19815895 19815895 + RNA DEL A A - rs145239076 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:19815895delA ENST00000511431.1 + 0 288 TCTGGGCTGTaaaaaaaaaaa 0.413 12 50 --- --- --- --- KLF3 51274 broad.mit.edu 37 4 38691476 38691476 + Frame_Shift_Del DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:38691476delC ENST00000261438.5 + 4 976 c.671delC c.(670-672)tcfs p.S224fs KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 224 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AACTCAGTGTCCCCCCCGCAA 0.423 8 887 --- --- --- --- ALPK1 80216 broad.mit.edu 37 4 113356393 113356393 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:113356393delA ENST00000458497.1 + 12 3403 c.3124delA c.(3124-3126)aafs p.K1043fs ALPK1_ENST00000177648.9_Frame_Shift_Del_p.K1043fs|ALPK1_ENST00000504176.2_Frame_Shift_Del_p.K965fs NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1043 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) GACTGTGAAGAAAAAAGGCAG 0.348 7 1054 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134073569 134073571 + In_Frame_Del DEL CTG CTG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:134073569_134073571delCTG ENST00000264360.4 + 1 3100_3102 c.2274_2276delCTG c.(2272-2277)ctc>ct p.LC758del NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 758 Cys-rich. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTGCTGCCTCTGCTGCTGCTGC 0.581 10 301 --- --- --- --- SPOCK3 50859 broad.mit.edu 37 4 168155291 168155292 + Frame_Shift_Del DEL CA CA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr4:168155291_168155292delCA ENST00000357154.3 - 2 170_171 c.33_34delTG c.(31-36)tgcafs p.CA11fs SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000421836.2_5'UTR|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.CA11fs|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.CA11fs NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 11 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) CAAGCGGCTGCACACACACACA 0.609 8 209 --- --- --- --- PAPD7 11044 broad.mit.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:6755013_6755014delAC ENST00000230859.6 + 13 1713_1714 c.1584_1585delAC c.(1582-1587)aaacfs p.KH528fs NM_001171805.1|NM_001171806.1|NM_006999.4 NP_001165276.1|NP_001165277.1|NP_008930.1 Q5XG87 PAPD7_HUMAN PAP associated domain containing 7 528 cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion nucleus DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 GGAGGAAAAAACACACACACAC 0.653 8 304 --- --- --- --- THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:79372774_79372776delTGA ENST00000350881.2 + 16 2179_2181 c.1989_1991delTGA c.(1987-1992)tgt>tg p.CD663del CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del NM_003248.4 NP_003239.2 P35443 TSP4_HUMAN thrombospondin 4 663 endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3) 34 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 9 1116 --- --- --- --- AP3S1 1176 broad.mit.edu 37 5 115202418 115202421 + Frame_Shift_Del DEL AAGA AAGA - rs80118146 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:115202418_115202421delAAGA ENST00000316788.7 + 2 678_681 c.121_124delAAGA c.(121-126)gafs p.KR41fs NM_001284.2 NP_001275.1 Q92572 AP3S1_HUMAN adaptor-related protein complex 3, sigma 1 subunit 41 insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle protein binding|protein transporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1) 12 all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245) OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05) TTTGGTATCTAAGAGAGATGAAAA 0.304 18 240 --- --- --- --- ANKHD1 54882 broad.mit.edu 37 5 139905676 139905676 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:139905676delA ENST00000297183.6 + 26 4712 c.4588delA c.(4588-4590)aafs p.K1531fs ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGTTTGGGAAAAAAAGGGC 0.423 9 742 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216457 149216459 + In_Frame_Del DEL GGA GGA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:149216457_149216459delGGA ENST00000309241.5 + 8 2471_2473 c.2439_2441delGGA c.(2437-2442)ggg>gg p.GE813del PPARGC1B_ENST00000360453.4_In_Frame_Del_p.GE774del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.GE749del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.GE813del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 813 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) aggaagaaggggaggaggaggag 0.606 11 432 --- --- --- --- LARP1 23367 broad.mit.edu 37 5 154181822 154181822 + Frame_Shift_Del DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:154181822delG ENST00000336314.4 + 11 1765 c.1741delG c.(1741-1743)ggfs p.G582fs NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 659 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CCGGCACCCAGGGGGGGACCG 0.547 8 553 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708697 180708698 + RNA INS - - A rs1815381 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr5:180708697_180708698insA ENST00000412295.2 + 0 238 ggggcggtaggcgggggctgga 0.718 14 76 --- --- --- --- MAS1L 116511 broad.mit.edu 37 6 29455156 29455157 + Frame_Shift_Del DEL AC AC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:29455156_29455157delAC ENST00000377127.3 - 1 581_582 c.523_524delGT c.(523-525)cfs p.V175fs NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 175 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 GGGGAAGAGGACACACACACAC 0.495 8 376 --- --- --- --- GABBR1 0 broad.mit.edu 37 6 29573436 29573438 + In_Frame_Del DEL CAG CAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:29573436_29573438delCAG ENST00000377034.4 - 20 2682_2684 c.2347_2349delCTG c.(2347-2349)del p.L783del GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 783 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.L783M(1) endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) GGAAGATTCCCAGCAGCAGCAGC 0.512 10 411 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30570264 30570266 + In_Frame_Del DEL GGA GGA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:30570264_30570266delGGA ENST00000376511.2 - 19 2712_2714 c.2160_2162delTCC c.(2158-2163)cca>cc p.PP720del NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 720 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GCCTCGGAATggaggaggaggag 0.670 8 348 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653494 30653496 + In_Frame_Del DEL TGC TGC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:30653494_30653496delTGC ENST00000274853.3 - 1 2176_2178 c.300_302delGCA c.(298-303)caa>ca p.QQ102del PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 102 Poly-Gln. cytoplasm|cytoskeleton actin binding p.Q100Q(1) CCGTtgttgttgctgctgctgct 0.650 16 459 --- --- --- --- TDRD6 221400 broad.mit.edu 37 6 46660414 46660415 + Frame_Shift_Ins INS - - A rs145334816 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:46660414_46660415insA ENST00000544460.1 + 1 4803_4804 c.4549_4550insA c.(4549-4551)aaafs p.K1517fs TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1517 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) GTATAATCCAGAAAAAAAAATG 0.351 9 353 --- --- --- --- ICK 22858 broad.mit.edu 37 6 52883129 52883129 + Splice_Site DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:52883129delT ENST00000356971.3 - 8 1151 c.663_splice c.e8+1 p.K221_splice ICK_ENST00000350082.5_Splice_Site_p.K221_splice NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 221 Protein kinase. intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) TATCATTACCTTTTTTGGTGT 0.502 11 1156 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 555 --- --- --- --- NOX3 50508 broad.mit.edu 37 6 155743925 155743926 + Frame_Shift_Del DEL CA CA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:155743925_155743926delCA ENST00000159060.2 - 10 1312_1313 c.1210_1211delTG c.(1210-1212)cfs p.C404fs NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 404 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CGCGGCAACGCACACACACACT 0.530 8 773 --- --- --- --- PDE10A 10846 broad.mit.edu 37 6 165844962 165844963 + Splice_Site INS - - A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr6:165844962_165844963insA ENST00000366882.1 - 9 818 c.e9-2 PDE10A_ENST00000539869.2_Splice_Site|PDE10A_ENST00000354448.4_Splice_Site Q9Y233 PDE10_HUMAN phosphodiesterase 10A platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) TGTTGCAACCTAAAAAAAACAA 0.327 7 411 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 17 182 --- --- --- --- TNRC18 84629 broad.mit.edu 37 7 5430009 5430011 + In_Frame_Del DEL AAG AAG - rs34840801 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:5430009_5430011delAAG ENST00000399434.2 - 3 528_530 c.370_372delCTT c.(370-372)del p.L124del TNRC18_ENST00000430969.1_Intron|TNRC18_ENST00000399537.4_Intron O15417 TNC18_HUMAN trinucleotide repeat containing 18 0 DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) aaaaaaaaaaaaGCCAGCATCCT 0.547 9 82 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 11 538 --- --- --- --- GARS 2617 broad.mit.edu 37 7 30634583 30634585 + In_Frame_Del DEL CTG CTG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:30634583_30634585delCTG ENST00000389266.3 + 1 287_289 c.46_48delCTG c.(46-48)del p.L20del NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 20 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) TCGCGCCGCTCTGCTGCTGCTGC 0.749 8 144 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97820131 97820132 + Frame_Shift_Del DEL AG AG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:97820131_97820132delAG ENST00000297293.5 + 10 1383_1384 c.1090_1091delAG c.(1090-1092)afs p.R364fs NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 364 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CCAAGTCATTAGAGAGAGAGAC 0.495 9 1264 --- --- --- --- GIGYF1 64599 broad.mit.edu 37 7 100284335 100284337 + In_Frame_Del DEL CCT CCT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:100284335_100284337delCCT ENST00000275732.5 - 7 1838_1840 c.629_631delAGG c.(628-633)ggc>g p.EG210del GIGYF1_ENST00000471340.2_Intron NM_022574.4 NP_072096.2 O75420 PERQ1_HUMAN GRB10 interacting GYF protein 1 210 Poly-Glu. p.E210delE(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) CTCCAGCTGCcctcctcctcctc 0.700 7 424 --- --- --- --- TRBV7-8 0 broad.mit.edu 37 7 142099805 142099806 + RNA DEL AC AC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:142099805_142099806delAC ENST00000390359.3 - 0 88 TAGTCATcatacacacacacac 0.441 11 261 --- --- --- --- TRBV6-5 0 broad.mit.edu 37 7 142180819 142180821 + RNA DEL AGG AGG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:142180819_142180821delAGG ENST00000390368.2 - 0 115 CCTGCAGAGAAGGAGAACAAAGC 0.557 12 435 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142481743 142481745 + RNA DEL CTA CTA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr7:142481743_142481745delCTA ENST00000603901.1 + 0 454 NR_001296.3 ACCCACATTTCTACTTTCTTTAT 0.517 15 246 --- --- --- --- ESCO2 157570 broad.mit.edu 37 8 27634576 27634577 + Frame_Shift_Ins INS - - A rs80359854 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:27634576_27634577insA ENST00000305188.8 + 3 989_990 c.751_752insA c.(751-753)aaafs p.K251fs ESCO2_ENST00000523910.1_3'UTR|ESCO2_ENST00000397418.2_5'UTR NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 251 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GACTGTCAGTGAAAAAAAAACT 0.396 SC Phocomelia syndrome 8 284 --- --- --- --- UNC5D 137970 broad.mit.edu 37 8 35608248 35608248 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:35608248delT ENST00000287272.2 + 12 1897 c.1877delT c.(1876-1878)gtfs p.V626fs UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 695 ZU5. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AAGGTGGCGGTTTTTGGCTGC 0.488 9 846 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48746799 48746799 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:48746799delT ENST00000314191.2 - 60 8163 c.8107delA c.(8107-8109)ggfs p.R2703fs PRKDC_ENST00000338368.3_Frame_Shift_Del_p.R2703fs|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2704 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCCCAGCCTTTTTTTCCCA 0.498 Non-homologous end-joining 7 1692 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144522387 144522389 + In_Frame_Del DEL GAG GAG - rs2272753 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr8:144522387_144522389delGAG ENST00000262577.5 - 11 2668_2670 c.2637_2639delCTC c.(2635-2640)tca>tc p.SS879del NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 879 Poly-Ser. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) Gggaggggatgaggaggaggagg 0.655 8 78 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007046 21007046 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:21007046delT ENST00000495827.1 - 7 734 c.689delA c.(688-690)agfs p.K231fs PTPLAD2_ENST00000513293.2_Frame_Shift_Del_p.K231fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 231 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TCACATCTTCTTTTTTTTAAT 0.368 7 337 --- --- --- --- FNBP1 23048 broad.mit.edu 37 9 132687243 132687243 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr9:132687243delT ENST00000420781.1 - 9 1201 c.983delA c.(982-984)atfs p.N328fs FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Frame_Shift_Del_p.N328fs|FNBP1_ENST00000446176.2_Frame_Shift_Del_p.N328fs Q96RU3 FNBP1_HUMAN formin binding protein 1 328 Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CAGTACCTTATTTTTTTTGAT 0.378 T MLL AML 8 88 --- --- --- --- KIAA1217 56243 broad.mit.edu 37 10 24822125 24822127 + In_Frame_Del DEL GAA GAA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:24822125_24822127delGAA ENST00000376451.2 + 11 2682_2684 c.2422_2424delGAA c.(2422-2424)del p.E812del KIAA1217_ENST00000376454.3_In_Frame_Del_p.E1129del|KIAA1217_ENST00000376462.1_In_Frame_Del_p.E1049del|KIAA1217_ENST00000396445.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000376452.3_In_Frame_Del_p.E1093del|KIAA1217_ENST00000458595.1_In_Frame_Del_p.E1094del|KIAA1217_ENST00000396446.1_In_Frame_Del_p.E812del|KIAA1217_ENST00000307544.6_In_Frame_Del_p.E812del Q5T5P2 SKT_HUMAN KIAA1217 1129 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGATGAGGAGGAAGAAGAAGAAG 0.552 9 319 --- --- --- --- PCDH15 65217 broad.mit.edu 37 10 55587198 55587200 + In_Frame_Del DEL GGC GGC - rs12246234 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:55587198_55587200delGGC ENST00000373965.2 - 33 4735_4737 c.4341_4343delGCC c.(4339-4344)cct>cc p.PP1449del PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1442 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACCTggcggaggcggcggcggcg 0.571 HNSCC(58;0.16) 14 419 --- --- --- --- PDZD7 79955 broad.mit.edu 37 10 102789811 102789811 + Frame_Shift_Del DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:102789811delG ENST00000370215.3 - 2 391 c.166delC c.(166-168)gcfs p.R56fs PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs NM_024895.4 NP_079171.1 Q9H5P4 PDZD7_HUMAN PDZ domain containing 7 56 cilium|nucleus protein binding p.R56C(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) CGGATTCCGCGGGGGGGCCCG 0.667 12 759 --- --- --- --- WBP1L 54838 broad.mit.edu 37 10 104569669 104569671 + In_Frame_Del DEL CAT CAT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr10:104569669_104569671delCAT ENST00000369889.4 + 3 292_294 c.150_152delCAT c.(148-153)acc>ac p.TI50del WBP1L_ENST00000448841.1_In_Frame_Del_p.TI71del NM_017787.4 NP_060257.4 Q9NX94 OPA1L_HUMAN WW domain binding protein 1-like 50 integral to membrane TGGTGTGGACCATCATCATCATC 0.606 9 1064 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 949 --- --- --- --- MMP1 4312 broad.mit.edu 37 11 102668791 102668793 + In_Frame_Del DEL CAG CAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:102668791_102668793delCAG ENST00000315274.6 - 1 98_100 c.31_33delCTG c.(31-33)del p.L11del WTAPP1_ENST00000525739.2_RNA NM_001145938.1|NM_002421.3 NP_001139410.1|NP_002412.1 P03956 MMP1_HUMAN matrix metallopeptidase 1 (interstitial collagenase) 11 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CACCCCAGAACAGCAGCAGCAGC 0.498 9 222 --- --- --- --- TMPRSS13 84000 broad.mit.edu 37 11 117789346 117789360 + In_Frame_Del DEL CTGGAGATGCCCGGC CTGGAGATGCCCGGC - rs33925760 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:117789346_117789360delCTGGAGATGCCCGGC ENST00000528626.1 - 2 288_302 c.215_229delGCCGGGCATCTCCAG c.(214-231)gcc>g p.GRASPA72del TMPRSS13_ENST00000430170.2_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000526090.1_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000445164.2_In_Frame_Del_p.GRASPA72del|TMPRSS13_ENST00000524993.1_In_Frame_Del_p.GRASPA72del NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 72 12 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GATGCCTGGGCTGGAGATGCCCGGCCTGGAGATGC 0.670 7 510 --- --- --- --- DDX6 1656 broad.mit.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:118629613_118629614insG ENST00000264018.4 - 9 1170 c.e9-2 DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) ATGGGAATTCTGGGGGGGGAGC 0.426 T IGH@ B-NHL 11 853 --- --- --- --- CHEK1 1111 broad.mit.edu 37 11 125505377 125505378 + Frame_Shift_Ins INS - - A rs35817404 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr11:125505377_125505378insA ENST00000534070.1 + 7 922_923 c.667_668insA c.(667-669)aaafs p.K223fs CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 223 Protein kinase. E -> V (in dbSNP:rs35817404). cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGACTGGAAAGAAAAAAAAACA 0.361 Other conserved DNA damage response genes 10 612 --- --- --- --- RECQL 5965 broad.mit.edu 37 12 21644546 21644547 + Frame_Shift_Ins INS - - T TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:21644546_21644547insT ENST00000444129.2 - 3 588_589 c.120_121insA c.(118-123)aatcctfs p.NP40fs RECQL_ENST00000421138.2_Frame_Shift_Ins_p.NP40fs NM_002907.3|NM_032941.2 NP_002898.2|NP_116559.1 P46063 RECQ1_HUMAN RecQ protein-like (DNA helicase Q1-like) 40 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding p.V41fs*2(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 17 TTTGTCAGGACTTTTTTTTTCT 0.381 Other identified genes with known or suspected DNA repair function 7 266 --- --- --- --- MARS 4141 broad.mit.edu 37 12 57883053 57883053 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:57883053delT ENST00000262027.5 + 3 338 c.204delT c.(202-204)tafs p.Y68fs MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_5'UTR NM_004990.3 NP_004981.2 P56192 SYMC_HUMAN methionyl-tRNA synthetase 68 methionyl-tRNA aminoacylation cytosol ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 33 GBM - Glioblastoma multiforme(3;4.27e-41) L-Methionine(DB00134) TGGGCAGATATTTTTTTTTGT 0.488 9 318 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 11 857 --- --- --- --- DDX55 57696 broad.mit.edu 37 12 124103201 124103202 + Translation_Start_Site DEL TG TG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:124103201_124103202delTG ENST00000421670.3 + 0 639_640 DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000238146.4_Intron Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 ATP binding|ATP-dependent helicase activity|RNA binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) GAATGTGGTATGTGTGTGTGTG 0.520 OREG0022230 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 255 --- --- --- --- POLE 5426 broad.mit.edu 37 12 133220099 133220100 + Frame_Shift_Del DEL CA CA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr12:133220099_133220100delCA ENST00000320574.5 - 34 4380_4381 c.4337_4338delTG c.(4336-4338)gfs p.V1447fs POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1447 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTTTATTGACCACACACACACA 0.604 DNA polymerases (catalytic subunits) 25 1220 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671273 25671273 + Frame_Shift_Del DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:25671273delG ENST00000281589.3 + 1 974 c.937delG c.(937-939)cgfs p.A313fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 313 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TCTCCGGAAAGCGTTTTCTCC 0.408 17 1088 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 9 72 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 7 279 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20086382 20086383 + RNA INS - - AAAA TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:20086382_20086383insAAAA ENST00000548261.1 + 0 135 TCTTACAAGGTAAAAAAAATGA 0.312 11 64 --- --- --- --- NAA30 122830 broad.mit.edu 37 14 57858199 57858201 + In_Frame_Del DEL AGG AGG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:57858199_57858201delAGG ENST00000556492.1 + 2 678_680 c.524_526delAGG c.(523-528)cag>c p.QE175del NAA30_ENST00000555166.1_Intron|NAA30_ENST00000554703.1_Intron NM_001011713.2 NP_001011713.2 Q147X3 NAA30_HUMAN N(alpha)-acetyltransferase 30, NatC catalytic subunit 175 cytoplasm peptide alpha-N-acetyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2) 13 GGCACCGAGCAGGAGGAGGAGGA 0.675 8 107 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72190482 72190484 + In_Frame_Del DEL TCC TCC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:72190482_72190484delTCC ENST00000555818.1 + 16 4738_4740 c.4390_4392delTCC c.(4390-4392)del p.S1468del SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1468 Ser-rich. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ctcctcctcttcctcctcctcct 0.552 14 662 --- --- --- --- RBM25 58517 broad.mit.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:73572607_73572608delAG ENST00000261973.7 + 11 1480_1481 c.1195_1196delAG c.(1195-1197)afs p.R399fs RBM25_ENST00000527432.1_Frame_Shift_Del_p.R399fs NM_021239.2 NP_067062.1 P49756 RBM25_HUMAN RNA binding motif protein 25 399 Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization. apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) agagcgggaaagagagagagag 0.446 7 141 --- --- --- --- CHGA 1113 broad.mit.edu 37 14 93397924 93397926 + In_Frame_Del DEL GAG GAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:93397924_93397926delGAG ENST00000216492.5 + 6 965_967 c.685_687delGAG c.(685-687)del p.E236del CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 236 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AAAGAGAgaagaggaggaggagg 0.645 7 197 --- --- --- --- AKT1 207 broad.mit.edu 37 14 105242073 105242075 + In_Frame_Del DEL CTC CTC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr14:105242073_105242075delCTC ENST00000554581.1 - 4 1829_1831 c.349_351delGAG c.(349-351)del p.E117del AKT1_ENST00000555528.1_In_Frame_Del_p.E117del|AKT1_ENST00000554848.1_In_Frame_Del_p.E117del|AKT1_ENST00000407796.2_In_Frame_Del_p.E117del|AKT1_ENST00000402615.2_In_Frame_Del_p.E117del|AKT1_ENST00000349310.3_In_Frame_Del_p.E117del|AKT1_ENST00000544168.1_In_Frame_Del_p.E55del P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 117 activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) GGAAGTCCATCTCCTCCTCCTCC 0.631 1 Mis """breast, colorectal, ovarian, NSCLC""" 7 411 --- --- --- --- EMC7 56851 broad.mit.edu 37 15 34393991 34393993 + In_Frame_Del DEL AGC AGC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:34393991_34393993delAGC ENST00000256545.4 - 1 156_158 c.48_50delGCT c.(46-51)cta>ct p.LL16del EMC7_ENST00000532113.1_5'UTR NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 ATCCCCCGATAGCAGCAGCAGCA 0.665 11 1049 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 10 301 --- --- --- --- MGA 23269 broad.mit.edu 37 15 42003383 42003385 + In_Frame_Del DEL CAG CAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:42003383_42003385delCAG ENST00000219905.7 + 8 3101_3103 c.2920_2922delCAG c.(2920-2922)del p.Q981del MGA_ENST00000389936.4_In_Frame_Del_p.Q981del|MGA_ENST00000570161.1_In_Frame_Del_p.Q981del|MGA_ENST00000566586.1_In_Frame_Del_p.Q981del|MGA_ENST00000545763.1_In_Frame_Del_p.Q981del NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 981 Gln-rich. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GCGGCAGGCACAGCAGCAGCAGC 0.458 9 383 --- --- --- --- SLTM 79811 broad.mit.edu 37 15 59182525 59182526 + Frame_Shift_Del DEL TC TC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:59182525_59182526delTC ENST00000380516.2 - 15 2120_2121 c.2033_2034delGA c.(2032-2034)afs p.R678fs SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs|AC025918.2_ENST00000452467.1_RNA NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 678 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CGCGTTCCATTCTCTCTCTCTC 0.431 8 746 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 8 207 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64972995 64972997 + In_Frame_Del DEL CAC CAC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:64972995_64972997delCAC ENST00000326648.3 + 7 4224_4226 c.4096_4098delCAC c.(4096-4098)del p.H1371del NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1371 Poly-His. nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATGTCCACACACCACCACCACC 0.591 8 820 --- --- --- --- MTFMT 123263 broad.mit.edu 37 15 65312612 65312613 + Splice_Site INS - - A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:65312612_65312613insA ENST00000220058.4 - 5 659 c.e5-2 NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) TGAAATGAGCTACAAAAAAAAA 0.381 7 106 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 20 460 --- --- --- --- UBE2Q2P1 0 broad.mit.edu 37 15 85077360 85077360 + RNA DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:85077360delA ENST00000339094.1 - 0 1678 NR_003661.2 tttttaaactaaaaaaaaaaa 0.373 10 34 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC AGGGGCAGGGGCAAGGGCAGGGGC - rs56192595 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC ENST00000341735.3 + 1 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gag>g p.EGQGQGQGQ178del MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 178 Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 7 34 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102292874 102292876 + RNA DEL CTC CTC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr15:102292874_102292876delCTC ENST00000561463.1 + 0 920_922 AGTTCATCTTCTCAGAGCTGCTG 0.581 7 21 --- --- --- --- Z84812.4 0 broad.mit.edu 37 16 81973 81974 + RNA INS - - GTCC TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:81973_81974insGTCC ENST00000568710.1 - 0 349 ATCAGCAGGAGGCCCACCTCGT 0.614 15 82 --- --- --- --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - - G rs2981599 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:3119304_3119305insG ENST00000525643.2 + 7 847_848 c.515_516insG c.(514-516)gaafs p.E172fs IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs P24001 IL32_HUMAN interleukin 32 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 9 1426 --- --- --- --- NAGPA 51172 broad.mit.edu 37 16 5083678 5083679 + Frame_Shift_Del DEL GC GC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:5083678_5083679delGC ENST00000312251.3 - 2 156_157 c.137_138delGC c.(136-138)cfs p.R46fs RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000381955.3_Frame_Shift_Del_p.R46fs|NAGPA_ENST00000564922.1_5'UTR NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase 46 carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) CCCGGGGGAGGCGCGCGCGCGC 0.767 7 185 --- --- --- --- RABEP2 79874 broad.mit.edu 37 16 28931200 28931202 + In_Frame_Del DEL CTG CTG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:28931200_28931202delCTG ENST00000358201.4 - 3 925_927 c.337_339delCAG c.(337-339)del p.Q113del RABEP2_ENST00000357573.6_In_Frame_Del_p.Q113del|RABEP2_ENST00000561803.1_5'UTR|RABEP2_ENST00000544477.1_In_Frame_Del_p.Q42del NM_024816.2 NP_079092.2 Q9H5N1 RABE2_HUMAN rabaptin, RAB GTPase binding effector protein 2 113 Poly-Gln. endocytosis|protein transport early endosome growth factor activity|GTPase activator activity breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 16 CCTCACAGTCCTGCTGCTGCTGC 0.640 7 362 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 7 360 --- --- --- --- RP11-23E10.4 0 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 10 76 --- --- --- --- ACD 65057 broad.mit.edu 37 16 67693646 67693648 + In_Frame_Del DEL GCA GCA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:67693646_67693648delGCA ENST00000219251.8 - 3 873_875 c.542_544delTGC c.(541-546)cag>c p.LQ181del ACD_ENST00000393919.4_In_Frame_Del_p.LQ184del NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 184 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L181delL(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCGCAGTCCTGCAGCAGCAGCAG 0.650 12 945 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372915 74372915 + RNA DEL T T - rs67181940 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr16:74372915delT ENST00000429810.2 - 0 1404 ACGTAGtttgttttttttttt 0.438 12 15 --- --- --- --- FKBP10 60681 broad.mit.edu 37 17 39975559 39975559 + Frame_Shift_Del DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:39975559delC ENST00000321562.4 + 5 929 c.825delC c.(823-825)ctfs p.L275fs FKBP10_ENST00000544340.1_5'UTR NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 275 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) CGCTGGAGCTCCCCCCCGGCT 0.632 7 678 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 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 p.R535fs*28(1) 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) ATGCTTGACCTTTTTTTTTCC 0.323 15 284 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 9 51 --- --- --- --- FAM210A 125228 broad.mit.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - rs143162930 TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr18:13681751delT ENST00000322247.3 - 3 713 c.326delA c.(325-327)agfs p.K109fs FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Frame_Shift_Del_p.K109fs NM_001098801.1 NP_001092271.1 Q96ND0 CR019_HUMAN family with sequence similarity 210, member A 109 integral to membrane p.K109fs*29(1) AGGCTCTTCCTTTTTTTCCGG 0.433 7 785 --- --- --- --- NEDD4L 0 broad.mit.edu 37 18 55992284 55992286 + In_Frame_Del DEL TCC TCC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr18:55992284_55992286delTCC ENST00000456986.1 + 9 807_809 c.207_209delTCC c.(205-210)ctt>ct p.LP69del NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 190 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AAGAGGAACTTCCTCCTCCTCCT 0.498 7 840 --- --- --- --- LRFN3 79414 broad.mit.edu 37 19 36430924 36430924 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:36430924delT ENST00000588831.1 + 3 1651 c.597delT c.(595-597)gcfs p.A199fs LRFN3_ENST00000246529.3_Frame_Shift_Del_p.A199fs Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 199 cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCGCCGGCGCTTTTTCCCGCC 0.677 9 1533 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899416 38899416 + Frame_Shift_Del DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:38899416delG ENST00000252530.5 + 8 963 c.944delG c.(943-945)cgfs p.R315fs FAM98C_ENST00000588262.1_Frame_Shift_Del_p.P181fs|FAM98C_ENST00000343358.7_Frame_Shift_Del_p.R233fs NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 315 p.R315L(1) endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTTCCAGACCGGGGGGGCCGC 0.562 8 668 --- --- --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:39898948_39898950delCAC ENST00000597629.1 + 2 682_684 c.608_610delCAC c.(607-612)tca>t p.SP203del ZFP36_ENST00000248673.3_In_Frame_Del_p.SP197del P26651 TTP_HUMAN ZFP36 ring finger protein 197 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 7 1570 --- --- --- --- PRX 57716 broad.mit.edu 37 19 40900180 40900182 + In_Frame_Del DEL TCC TCC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:40900180_40900182delTCC ENST00000324001.7 - 7 4347_4349 c.4077_4079delGGA c.(4075-4080)gaa>ga p.EE1359del PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1359 Poly-Glu. Missing. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTGCcctcttcctcctcctcct 0.695 10 163 --- --- --- --- PLAUR 5329 broad.mit.edu 37 19 44174235 44174237 + In_Frame_Del DEL AGC AGC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:44174235_44174237delAGC ENST00000221264.4 - 1 462_464 c.36_38delGCT c.(34-39)ctc>ct p.LL12del PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del NM_001005377.2 NP_001005377.1 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 12 attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3) 20 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) GCAGGTGTGGagcagcagcagca 0.660 7 558 --- --- --- --- RSPH6A 81492 broad.mit.edu 37 19 46299165 46299167 + In_Frame_Del DEL CCT CCT - rs62639328 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:46299165_46299167delCCT ENST00000221538.3 - 6 2256_2258 c.2114_2116delAGG c.(2113-2118)ggc>g p.EG705del RSPH6A_ENST00000597055.1_3'UTR|RSPH6A_ENST00000600188.1_In_Frame_Del_p.EG441del NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 705 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 tcctcctcgccctcctcctcctc 0.586 16 866 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 9 518 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 17 632 --- --- --- --- BRSK1 84446 broad.mit.edu 37 19 55815036 55815036 + Splice_Site DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr19:55815036delC ENST00000309383.1 + 12 1405 c.1126_splice c.e12-1 p.D376_splice BRSK1_ENST00000590333.1_Splice_Site_p.D392_splice|BRSK1_ENST00000326848.7_Splice_Site_p.D71_splice NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 376 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.R379fs*9(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GTCCCTCAGACCCCCCCCGGA 0.582 12 508 --- --- --- --- DDX27 55661 broad.mit.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:47858504delA ENST00000371764.4 + 17 2074 c.2065delA c.(2065-2067)aafs p.K691fs ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 691 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.K691fs*4(3) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GAAGGATGCCAAAAAAAAGGG 0.488 8 543 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 10 1642 --- --- --- --- DIDO1 11083 broad.mit.edu 37 20 61512380 61512381 + Frame_Shift_Ins INS - - G TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr20:61512380_61512381insG ENST00000266070.4 - 16 5252_5253 c.4927_4928insC c.(4927-4929)cccfs p.P1643fs DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1643 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CGTGGCGGGGCGGGTGCCCTCC 0.728 7 161 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11097726 11097726 + RNA DEL G G - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr21:11097726delG ENST00000470054.1 - 0 223 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCCAGTTTCAGCGAAGGCACT 0.587 11 110 --- --- --- --- TPTEP1 0 broad.mit.edu 37 22 17127506 17127507 + RNA INS - - A TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:17127506_17127507insA ENST00000426585.1 + 0 442 AGGGCCTAGAGAAAAAAAAAAT 0.421 8 280 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20918916 20918918 + In_Frame_Del DEL CAG CAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:20918916_20918918delCAG ENST00000263205.7 + 6 700_702 c.631_633delCAG c.(631-633)del p.Q218del MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 218 Poly-Gln. Missing (in Ref. 4; CAG30423). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) gcagcagctccagcagcagcagc 0.567 OREG0026319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 175 --- --- --- --- ZNRF3 84133 broad.mit.edu 37 22 29445819 29445821 + In_Frame_Del DEL CAG CAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:29445819_29445821delCAG ENST00000544604.2 + 8 1825_1827 c.1650_1652delCAG c.(1648-1653)gac>ga p.DS550del ZNRF3_ENST00000402174.1_In_Frame_Del_p.DS450del|ZNRF3_ENST00000406323.3_In_Frame_Del_p.DS450del|ZNRF3_ENST00000332811.4_In_Frame_Del_p.DS450del NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 550 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CAGgcagcgacagcagcagcagc 0.660 7 243 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 11 735 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36696948 36696950 + In_Frame_Del DEL CTC CTC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chr22:36696948_36696950delCTC ENST00000216181.5 - 22 3015_3017 c.2785_2787delGAG c.(2785-2787)del p.E929del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 929 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 GCTGGCAGCGCTCCTCCTCCTCC 0.665 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 14 819 --- --- --- --- SH3KBP1 30011 broad.mit.edu 37 X 19606764 19606767 + Frame_Shift_Del DEL GTGT GTGT - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:19606764_19606767delGTGT ENST00000397821.3 - 12 1582_1585 c.1292_1295delACAC c.(1291-1296)ccfs p.HT431fs SH3KBP1_ENST00000379697.3_Frame_Shift_Del_p.HT475fs|SH3KBP1_ENST00000541422.1_Frame_Shift_Del_p.HT170fs|SH3KBP1_ENST00000379698.4_Frame_Shift_Del_p.HT394fs|SH3KBP1_ENST00000379716.1_Frame_Shift_Del_p.HT193fs NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 431 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCAGTACCTGGTGTGTGTCAGCGG 0.618 7 867 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 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 ggtggaggaagaggaggaggagg 0.517 7 194 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 14 610 --- --- --- --- ARMCX3 51566 broad.mit.edu 37 X 100880152 100880154 + In_Frame_Del DEL TGA TGA - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:100880152_100880154delTGA ENST00000341189.4 + 5 1049_1051 c.183_185delTGA c.(181-186)tct>tc p.SD61del ARMCX3_ENST00000471229.2_In_Frame_Del_p.SD61del|ARMCX3_ENST00000537169.1_In_Frame_Del_p.SD61del NM_016607.3 NP_057691.1 Q9UH62 ARMX3_HUMAN armadillo repeat containing, X-linked 3 61 integral to membrane binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 ATGACTGGTCTGATGATGATGAT 0.517 8 1100 --- --- --- --- CAPN6 827 broad.mit.edu 37 X 110494259 110494259 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:110494259delA ENST00000324068.1 - 8 1211 c.1044delT c.(1042-1044)ttfs p.F348fs CAPN6_ENST00000541758.1_Frame_Shift_Del_p.F93fs NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 348 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCTTTCGGCCAAAAATAGGGT 0.488 8 2087 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 9 1473 --- --- --- --- MAGEA10 4109 broad.mit.edu 37 X 151303906 151303908 + In_Frame_Del DEL AGG AGG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:151303906_151303908delAGG ENST00000370323.4 - 4 501_503 c.185_187delCCT c.(184-189)tgc>t p.SC62del RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 62 Poly-Ser. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAGGATAGCaggaggaggagga 0.562 9 568 --- --- --- --- ABCD1 215 broad.mit.edu 37 X 152991397 152991399 + In_Frame_Del DEL TCC TCC - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:152991397_152991399delTCC ENST00000218104.3 + 1 1075_1077 c.676_678delTCC c.(676-678)del p.S226del ABCD1_ENST00000370129.4_In_Frame_Del_p.S41del NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 226 ABC transmembrane type-1. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCTGTGACTTCCTACACCCTGC 0.685 9 675 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363100 153363102 + In_Frame_Del DEL GCG GCG - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:153363100_153363102delGCG ENST00000453960.2 - 1 75_77 c.21_23delCGC c.(19-24)gcg>gc p.AA7del MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCGCTCGGCgcggcggcggcgg 0.778 9 190 --- --- --- --- RPL10 6134 broad.mit.edu 37 X 153627860 153627860 + Frame_Shift_Del DEL A A - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrX:153627860delA ENST00000424325.2 + 4 303 c.115delA c.(115-117)aafs p.K40fs RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs NM_001256577.1|NM_001256580.1|NM_006013.3 NP_001243506.1|NP_001243509.1|NP_006004.2 P27635 RL10_HUMAN ribosomal protein L10 40 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CCTGGGGCGGAAAAAGGCAAA 0.512 OREG0019957 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 1026 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-US-A774-01A-21D-A32N-08 TCGA-US-A774-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab10fa94-b2a9-4edb-8047-9b949ad59060 0a9222a6-bcda-4169-afe6-015a10d017c5 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 12 104 --- --- --- ---