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 ITGA11 22801 broad.mit.edu 37 15 68620499 68620499 + Missense_Mutation SNP C C A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr15:68620499C>A ENST00000423218.2 - 16 2098 c.2003G>T c.(2002-2004)tGc>tTc p.C668F ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F Q9UKX5 ITA11_HUMAN integrin, alpha 11 668 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.C668F(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) GGCGGCCAGGCAGGTGGCATC 0.577000 6 67 0.000442599 0.000490264 0.058154 1 0 MT1L 4500 broad.mit.edu 37 16 56652609 56652609 + RNA SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr16:56652609C>T ENST00000565768.1 + 0 290 NR_001447.2 metallothionein 1L (gene/pseudogene) GACAGCCCTGCTCCCAGATGT 0.512000 3 78 0 0 0.115264 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552414 1552414 + Missense_Mutation SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr20:1552414G>C ENST00000381605.4 - 3 767 c.703C>G c.(703-705)Cag>Gag p.Q235E SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 235 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGGTCCCCCTGCAAGGTGATG 0.602000 81 133 0 0 0.139131 0 0 RNF214 257160 broad.mit.edu 37 11 117153155 117153155 + Missense_Mutation SNP C C A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr11:117153155C>A ENST00000530849.1 + 11 1293 c.1283C>A c.(1282-1284)aCa>aAa p.T428K RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531452.1_Missense_Mutation_p.T583K|RNF214_ENST00000531287.1_Missense_Mutation_p.T428K|RNF214_ENST00000300650.4_Missense_Mutation_p.T583K Q8ND24 RN214_HUMAN ring finger protein 214 583 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) CAGATCAAGACAGCACGTACC 0.522000 4 92 0.00909568 0.00992256 0.150653 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139298534 139298534 + Missense_Mutation SNP A A G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr9:139298534A>G ENST00000298537.7 - 8 1323 c.1112T>C c.(1111-1113)gTc>gCc p.V371A SDCCAG3_ENST00000371725.3_Missense_Mutation_p.V321A|SDCCAG3_ENST00000357365.3_Missense_Mutation_p.V394A|SDCCAG3_ENST00000461693.1_5'UTR NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 394 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) ACTGTTCATGACCACCCGGAG 0.627000 4 95 0 0 0.150653 0 0 MSH4 4438 broad.mit.edu 37 1 76363723 76363723 + Nonsense_Mutation SNP T T G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:76363723T>G ENST00000263187.3 + 18 2591 c.2487T>G c.(2485-2487)taT>taG p.Y829* NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 829 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CAATTTTGTATACCTACAAAC 0.303000 Mismatch excision repair (MMR) 31 99 0 0 0.183431 0 0 PHF2 5253 broad.mit.edu 37 9 96428051 96428051 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr9:96428051G>A ENST00000359246.4 + 15 2388 c.2021G>A c.(2020-2022)cGg>cAg p.R674Q PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 674 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) AAGCCCGTGCGGGATGAGTAT 0.582000 3 85 0 0 0.115264 0 0 BRWD1 54014 broad.mit.edu 37 21 40608649 40608649 + Missense_Mutation SNP A A C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr21:40608649A>C ENST00000342449.3 - 23 2716 c.2638T>G c.(2638-2640)Tta>Gta p.L880V BRWD1_ENST00000333229.2_Missense_Mutation_p.L880V|BRWD1_ENST00000380800.3_Missense_Mutation_p.L880V NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 880 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GATGTTCTTAAAGGAGGCTGC 0.408000 26 105 0 0 0.116897 0 0 DENND4B 9909 broad.mit.edu 37 1 153915382 153915382 + Missense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:153915382C>T ENST00000361217.4 - 3 960 c.542G>A c.(541-543)cGg>cAg p.R181Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 181 MABP. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GCGGGGCAGCCGGCAGTAAGT 0.642000 3 20 0 0 0.115264 0 0 HERC2 8924 broad.mit.edu 37 15 28386775 28386775 + Splice_Site SNP G G A rs149707599 byFrequency TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr15:28386775G>A ENST00000261609.7 - 78 11926 c.11816_splice c.e78-1 p.R3940_splice NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3940 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.R3940*(2) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TCATCTGGTCGCCTACAATAC 0.478000 39 183 0 0 0.139131 0 0 PRSS54 221191 broad.mit.edu 37 16 58314362 58314362 + Silent SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr16:58314362C>T ENST00000219301.4 - 7 1348 c.954G>A c.(952-954)agG>agA p.R318R PRSS54_ENST00000543437.1_Silent_p.R219R|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.R318R|CCDC113_ENST00000219299.4_3'UTR NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 318 proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCGTGATGGTCCTTCTTTGTC 0.468000 20 107 0 0 0.055883 0 0 POTEC 388468 broad.mit.edu 37 18 14513764 14513764 + Missense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr18:14513764C>T ENST00000358970.5 - 10 1429 c.1430G>A c.(1429-1431)cGg>cAg p.R477Q NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 477 p.R477Q(12) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AAGTTGTTTCCGGGTATCATT 0.358000 3 30 0 0 0.115264 0 0 MYH2 4620 broad.mit.edu 37 17 10432554 10432554 + Silent SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:10432554G>A ENST00000245503.5 - 26 3663 c.3279C>T c.(3277-3279)atC>atT p.I1093I CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1093I|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1093 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCAGATTGCTGATTTCAAACT 0.333000 5 78 0 0 0.184627 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22868967 22868967 + Splice_Site SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr15:22868967G>C ENST00000283645.4 + 20 2968 c.e20+1 TUBGCP5_ENST00000453949.2_Splice_Site NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GAGAGAAAAGGTACATGAGAT 0.443000 4 22 0 0 0.150653 0 0 MXRA5 25878 broad.mit.edu 37 X 3238065 3238065 + Missense_Mutation SNP C C G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chrX:3238065C>G ENST00000217939.6 - 5 5815 c.5661G>C c.(5659-5661)tgG>tgC p.W1887C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1887 Ig-like C2-type 3. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAACCTTTGTCCAAGTAACGA 0.388000 3 106 0 0 0.115264 0 0 FYB 2533 broad.mit.edu 37 5 39202820 39202820 + Silent SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr5:39202820C>T ENST00000351578.6 - 2 433 c.243G>A c.(241-243)ccG>ccA p.P81P FYB_ENST00000540520.1_Silent_p.P91P|FYB_ENST00000515010.1_Silent_p.P81P|FYB_ENST00000505428.1_Silent_p.P81P|FYB_ENST00000512982.1_Silent_p.P81P NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 81 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GCTTTAGAAACGGGGGCTTGG 0.552000 9 108 0 0 0.069234 0 0 SYT16 83851 broad.mit.edu 37 14 62551035 62551035 + Missense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr14:62551035C>T ENST00000430451.2 + 5 1753 c.1556C>T c.(1555-1557)aCg>aTg p.T519M NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 519 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) AATGCCACAACGGGGCGATTA 0.537000 35 107 0 0 0.183431 0 0 TRBV7-6 28592 broad.mit.edu 37 7 142139456 142139456 + RNA SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:142139456C>T ENST00000390374.3 - 0 213 TGCCCCAGGGCCTGTCGGTAC 0.517000 5 216 0 0 0.058154 0 0 CLU 1191 broad.mit.edu 37 8 27472262 27472262 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr8:27472262G>A ENST00000560366.1 - 1 65 c.37C>T c.(37-39)Cgc>Tgc p.R13C CLU_ENST00000316403.10_5'UTR NM_001831.3 NP_001822.3 P10909 CLUS_HUMAN clusterin 0 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) CTCTGCTCGCGCACACACCCC 0.662000 OREG0018671 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 99 0 0 0.150653 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412010 43412010 + Missense_Mutation SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr21:43412010G>C ENST00000310826.5 - 3 2378 c.2195C>G c.(2194-2196)tCt>tGt p.S732C ZBTB21_ENST00000398511.3_Missense_Mutation_p.S732C|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S732C|ZBTB21_ENST00000398505.3_Intron NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 p.S732C(1) TAGGAGAGAAGAGAGCTTAGC 0.522000 79 386 0 0 0.139131 0 0 NEK1 4750 broad.mit.edu 37 4 170498225 170498225 + Missense_Mutation SNP T T C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr4:170498225T>C ENST00000439128.2 - 11 1514 c.874A>G c.(874-876)Aga>Gga p.R292G NEK1_ENST00000512193.1_Missense_Mutation_p.R292G|NEK1_ENST00000510533.1_Missense_Mutation_p.R292G|NEK1_ENST00000511633.1_Missense_Mutation_p.R292G|NEK1_ENST00000507142.1_Missense_Mutation_p.R292G NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 292 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) GAAGCTGGTCTTTTAGCTAGA 0.328000 23 65 0 0 0.069288 0 0 TRPM4 54795 broad.mit.edu 37 19 49674993 49674993 + Silent SNP T T C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr19:49674993T>C ENST00000252826.5 + 8 1143 c.1017T>C c.(1015-1017)ttT>ttC p.F339F TRPM4_ENST00000355712.5_Silent_p.F56F|TRPM4_ENST00000427978.2_Silent_p.F339F|TRPM4_ENST00000601347.1_3'UTR NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 339 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGCGTTTCTTTCCCAAAGGGG 0.637000 3 74 0 0 0.115264 0 0 ZNF727 442319 broad.mit.edu 37 7 63538726 63538726 + Missense_Mutation SNP T T A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:63538726T>A ENST00000550760.3 + 4 1478 c.1299T>A c.(1297-1299)ttT>ttA p.F433L NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 GCAAAACCTTTAAGTGGTTCC 0.408000 3 10 0 0 0.150653 0 0 TPM3 7170 broad.mit.edu 37 1 154148674 154148674 + Silent SNP T T C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:154148674T>C ENST00000368533.3 - 2 235 c.183A>G c.(181-183)gaA>gaG p.E61E TPM3_ENST00000368530.2_Silent_p.E98E|TPM3_ENST00000368531.2_Silent_p.E61E|TPM3_ENST00000341485.5_Silent_p.E61E|TPM3_ENST00000330188.9_Silent_p.E61E|TPM3_ENST00000328159.4_Silent_p.E61E|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000323144.7_Silent_p.E61E|TPM3_ENST00000302206.5_5'UTR|TPM3_ENST00000271850.7_Silent_p.E98E|TPM3_ENST00000469717.1_Intron NM_001043352.1|NM_001278188.1|NM_153649.3 NP_001036817.1|NP_001265117.1|NP_705935.1 P06753 TPM3_HUMAN tropomyosin 3 97 cellular component movement|muscle filament sliding|regulation of muscle contraction cytosol|muscle thin filament tropomyosin|stress fiber actin binding TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33) breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) GGTCCAGCTCTTCTTCAACCA 0.547000 T """NTRK1, ALK, ROS1""" """papillary thyroid, ALCL, NSCLC""" 76 253 0 0 0.139131 0 0 PROM2 150696 broad.mit.edu 37 2 95947024 95947024 + Missense_Mutation SNP C C T rs143192230 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:95947024C>T ENST00000317620.9 + 12 1595 c.1462C>T c.(1462-1464)Ctc>Ttc p.L488F PROM2_ENST00000542147.1_Missense_Mutation_p.L488F|PROM2_ENST00000403131.2_Missense_Mutation_p.L488F|PROM2_ENST00000317668.4_Missense_Mutation_p.L488F NM_001165978.1 NP_001159450.1 Q8N271 PROM2_HUMAN prominin 2 488 apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 32 TGCTGCACCCCTCATCCTCCT 0.632000 5 124 0 0 0.021553 0 0 DISP2 85455 broad.mit.edu 37 15 40660420 40660420 + Missense_Mutation SNP C C G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr15:40660420C>G ENST00000267889.3 + 8 2194 c.2107C>G c.(2107-2109)Cgc>Ggc p.R703G NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 703 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CATCAAGTTCCGCTACATCTG 0.746000 6 22 0 0 0.047766 0 0 WDFY3 23001 broad.mit.edu 37 4 85750167 85750167 + Missense_Mutation SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr4:85750167G>C ENST00000322366.6 - 9 1353 c.946C>G c.(946-948)Ctc>Gtc p.L316V WDFY3_ENST00000295888.4_Missense_Mutation_p.L316V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 316 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTAAGCAAGAGATCACAAAGA 0.348000 11 99 0 0 0.069234 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1323907 1323907 + Silent SNP A A G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr5:1323907A>G ENST00000320895.5 - 12 1532 c.1275T>C c.(1273-1275)taT>taC p.Y425Y CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Silent_p.Y389Y|CLPTM1L_ENST00000507807.1_Silent_p.Y256Y NM_030782.3 NP_110409.2 Q96KA5 CLP1L_HUMAN CLPTM1-like 425 apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCTACCTCTTATATTTGATAT 0.537000 3 33 0 0 0.115264 0 0 UNC13A 23025 broad.mit.edu 37 19 17743623 17743623 + Silent SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr19:17743623G>A ENST00000428389.2 - 29 3659 c.3660C>T c.(3658-3660)ccC>ccT p.P1220P UNC13A_ENST00000252773.7_Silent_p.P1132P|UNC13A_ENST00000551649.1_Silent_p.P1132P|UNC13A_ENST00000550896.1_Silent_p.P1130P|UNC13A_ENST00000552293.1_Silent_p.P1132P|UNC13A_ENST00000519716.2_Silent_p.P1132P Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1132 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CCTTGAAGGCGGGAAGTTCCG 0.552000 12 55 0 0 0.105934 0 0 FAM168B 130074 broad.mit.edu 37 2 131829435 131829435 + Silent SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:131829435G>A ENST00000409185.1 - 3 254 c.147C>T c.(145-147)ttC>ttT p.F49F FAM168B_ENST00000389915.3_Silent_p.F49F NM_001009993.2 NP_001009993.2 A1KXE4 F168B_HUMAN family with sequence similarity 168, member B 49 endometrium(3)|lung(2) 5 TACCTGTTTGGAAGGTAGGAT 0.463000 5 224 0 0 0.184627 0 0 SETD4 54093 broad.mit.edu 37 21 37418122 37418122 + Nonsense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr21:37418122G>A ENST00000399215.1 - 5 1856 c.484C>T c.(484-486)Cag>Tag p.Q162* SETD4_ENST00000399208.2_Nonsense_Mutation_p.Q162*|SETD4_ENST00000332131.4_Nonsense_Mutation_p.Q162*|SETD4_ENST00000399207.1_Nonsense_Mutation_p.Q162*|SETD4_ENST00000399201.1_Nonsense_Mutation_p.Q138*|SETD4_ENST00000399212.1_Nonsense_Mutation_p.Q138*|SETD4_ENST00000399205.1_Nonsense_Mutation_p.Q138*|SETD4_ENST00000481477.1_5'UTR Q9NVD3 SETD4_HUMAN SET domain containing 4 162 SET. autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 15 TGGGCTCTCTGCTCTTCAGCC 0.493000 53 257 0 0 0.139131 0 0 HMOX1 3162 broad.mit.edu 37 22 35789561 35789561 + Silent SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr22:35789561G>A ENST00000216117.8 + 5 1176 c.837G>A c.(835-837)gcG>gcA p.A279A NM_002133.2 NP_002124.1 P09601 HMOX1_HUMAN heme oxygenase (decycling) 1 279 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) TTCTGGTGGCGACAGTTGCTG 0.577000 6 161 0 0 0.029380 0 0 GAD2 2572 broad.mit.edu 37 10 26581848 26581848 + Silent SNP C C A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr10:26581848C>A ENST00000376261.3 + 15 2015 c.1512C>A c.(1510-1512)gtC>gtA p.V504V GAD2_ENST00000259271.3_Silent_p.V504V NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 504 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) ACACAAATGTCTGCTTCTGGT 0.443000 47 372 2.17126e-26 2.48144e-26 0.139131 1 0 BMS1P20 96610 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 9 53 0 0 0.047766 0 0 SNRPB 6628 broad.mit.edu 37 20 2442419 2442419 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr20:2442419G>A ENST00000438552.2 - 7 868 c.706C>T c.(706-708)Cgc>Tgc p.R236C SNRPB_ENST00000381342.2_3'UTR NM_198216.1 NP_937859.1 P14678 RSMB_HUMAN small nuclear ribonucleoprotein polypeptides B and B1 236 Repeat-rich region. histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 10 CTTGGTGGGCGCATTCCCGGG 0.547000 7 312 0 0 0.038147 0 0 NAE1 8883 broad.mit.edu 37 16 66847735 66847735 + Silent SNP A A T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr16:66847735A>T ENST00000379463.2 - 13 1029 c.837T>A c.(835-837)atT>atA p.I279I NAE1_ENST00000359087.4_Silent_p.I288I|NAE1_ENST00000290810.3_Silent_p.I285I|NAE1_ENST00000394074.2_Silent_p.I196I NM_001018159.1 NP_001018169.1 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 285 apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) ATATATCTTCAATACTGCTTG 0.318000 17 170 0 0 0.175082 0 0 COQ9 57017 broad.mit.edu 37 16 57493630 57493630 + Nonsense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr16:57493630C>T ENST00000262507.6 + 7 934 c.865C>T c.(865-867)Cag>Tag p.Q289* COQ9_ENST00000567933.1_Nonsense_Mutation_p.Q178*|COQ9_ENST00000567072.1_Nonsense_Mutation_p.Q254* NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 289 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 CACTGCCAAGCAGGTAGGTGG 0.537000 15 69 0 0 0.119110 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 105 0 0 0.150653 0 0 MBNL2 10150 broad.mit.edu 37 13 97999179 97999179 + Missense_Mutation SNP A A G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr13:97999179A>G ENST00000345429.6 + 5 1443 c.662A>G c.(661-663)tAc>tGc p.Y221C MBNL2_ENST00000445661.2_Intron|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y221C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y221C|MBNL2_ENST00000376673.3_Missense_Mutation_p.Y221C NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 221 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) TGTATGGATTACATAAAGGGG 0.527000 66 203 0 0 0.139131 0 0 LRRC37BP1 147172 broad.mit.edu 37 17 28958975 28958975 + RNA SNP T T G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:28958975T>G ENST00000578265.1 + 0 287 LRRC37BP1_ENST00000412831.1_RNA ACATCTTGCCTTATCTCTCAC 0.438000 13 191 0 0 0.105934 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140864939 140864939 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr5:140864939G>A ENST00000306593.1 + 1 199 c.199G>A c.(199-201)Gct>Act p.A67T PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGCAGGTCGCTGGAGAGGT 0.572000 22 153 0 0 0.083992 0 0 BMS1P20 96610 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 9 54 0 0 0.047766 0 0 SH2D7 646892 broad.mit.edu 37 15 78393869 78393869 + Missense_Mutation SNP C C A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr15:78393869C>A ENST00000328828.5 + 5 1274 c.1274C>A c.(1273-1275)aCc>aAc p.T425N SH2D7_ENST00000409568.2_Missense_Mutation_p.T289N NM_001101404.1 NP_001094874.1 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 425 endometrium(2)|kidney(2)|lung(3) 7 ATCCCAGCAACCAAGAGCAAG 0.582000 4 20 0.150653 0.161896 0.150653 1 0 FRAS1 80144 broad.mit.edu 37 4 79400644 79400644 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr4:79400644G>A ENST00000264895.6 + 56 8655 c.8215G>A c.(8215-8217)Gcg>Acg p.A2739T NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2734 Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GATGTCTGCCGCGAGTCGTGT 0.463000 30 103 0 0 0.163468 0 0 MFAP2 4237 broad.mit.edu 37 1 17302162 17302162 + Missense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:17302162C>T ENST00000375535.3 - 7 639 c.350G>A c.(349-351)tGt>tAt p.C117Y MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.C116Y|MFAP2_ENST00000375534.3_Missense_Mutation_p.C116Y P55001 MFAP2_HUMAN microfibrillar-associated protein 2 117 microfibril kidney(1)|lung(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTCGTTGAGACACTGTTTGCA 0.612000 4 46 0 0 0.150653 0 0 TMEM71 137835 broad.mit.edu 37 8 133723166 133723166 + Missense_Mutation SNP A A G rs1895807 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr8:133723166A>G ENST00000523829.1 - 9 998 c.877T>C c.(877-879)Tgg>Cgg p.W293R TMEM71_ENST00000377901.4_3'UTR|TMEM71_ENST00000356838.3_3'UTR Q6P5X7 TMM71_HUMAN transmembrane protein 71 0 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GACAATTTCCAGATATTCAGA 0.348000 5 199 0 0 0.184627 0 0 ALPI 248 broad.mit.edu 37 2 233321775 233321775 + Missense_Mutation SNP A A G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:233321775A>G ENST00000295463.3 + 4 544 c.467A>G c.(466-468)aAg>aGg p.K156R NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 156 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AACCGGGCCAAGCAAGCAGGT 0.602000 4 8 0 0 0.150653 0 0 KIF3B 9371 broad.mit.edu 37 20 30898037 30898037 + Nonsense_Mutation SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr20:30898037C>T ENST00000375712.3 + 2 624 c.457C>T c.(457-459)Cga>Tga p.R153* NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 153 Kinesin-motor. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGAGGAGATCCGAGATTTGCT 0.463000 24 78 0 0 0.076483 0 0 CYB5R1 51706 broad.mit.edu 37 1 202935709 202935709 + Missense_Mutation SNP T T C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:202935709T>C ENST00000367249.4 - 3 259 c.185A>G c.(184-186)aAg>aGg p.K62R NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 62 FAD-binding FR-type. sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) GCGGAACCTCTTGGTGTTGTG 0.612000 7 138 0 0 0.038147 0 0 OR5D13 390142 broad.mit.edu 37 11 55541050 55541050 + Missense_Mutation SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr11:55541050G>C ENST00000361760.1 + 1 137 c.137G>C c.(136-138)gGc>gCc p.G46A NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GGGAACTTGGGCATGATAATA 0.388000 31 232 0 0 0.134883 0 0 AKAP6 9472 broad.mit.edu 37 14 32902910 32902910 + Missense_Mutation SNP C C G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr14:32902910C>G ENST00000280979.4 + 2 381 c.211C>G c.(211-213)Cct>Gct p.P71A AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557354.1_Missense_Mutation_p.P71A|AKAP6_ENST00000557272.1_Missense_Mutation_p.P71A NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 71 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CCTCCACTTACCTGAAATTGA 0.522000 27 214 0 0 0.116897 0 0 MYBPHL 343263 broad.mit.edu 37 1 109839773 109839773 + Missense_Mutation SNP C C T rs140919452 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:109839773C>T ENST00000357155.1 - 4 518 c.469G>A c.(469-471)Gtt>Att p.V157I MYBPHL_ENST00000477962.1_Intron NM_001010985.2|NM_001265613.1 NP_001010985.2|NP_001252542.1 A2RUH7 MBPHL_HUMAN myosin binding protein H-like 157 Fibronectin type-III. central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2) 14 all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822) Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225) AAGCCCCAAACGTCCACCAGC 0.552000 42 218 0 0 0.086207 0 0 FANCB 2187 broad.mit.edu 37 X 14861792 14861792 + Missense_Mutation SNP G G A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chrX:14861792G>A ENST00000398334.1 - 10 2744 c.2477C>T c.(2476-2478)aCg>aTg p.T826M FANCB_ENST00000324138.3_Missense_Mutation_p.T826M NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 826 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) TTTTAGGTTCGTTTGCAACAT 0.398000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 7 301 0 0 0.029380 0 0 FAAH 2166 broad.mit.edu 37 1 46871356 46871356 + Silent SNP C C T TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:46871356C>T ENST00000243167.8 + 5 759 c.675C>T c.(673-675)atC>atT p.I225I FAAH_ENST00000493735.1_3'UTR NM_001441.2 NP_001432.2 O00519 FAAH1_HUMAN fatty acid amide hydrolase 225 fatty acid catabolic process cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 22 Acute lymphoblastic leukemia(166;0.155) Propofol(DB00818)|Thiopental(DB00599) GGGCCCTCATCGGGTCTGGAG 0.637000 21 98 0 0 0.204396 0 0 NFXL1 152518 broad.mit.edu 37 4 47853119 47853119 + Missense_Mutation SNP C C G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr4:47853119C>G ENST00000507489.1 - 22 2731 c.2555G>C c.(2554-2556)aGa>aCa p.R852T NFXL1_ENST00000381538.3_Missense_Mutation_p.R852T NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 852 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 TACCTGTTGTCTTCGTTTTTC 0.343000 13 70 0 0 0.132662 0 0 ACSS1 84532 broad.mit.edu 37 20 25038481 25038481 + Silent SNP G G C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr20:25038481G>C ENST00000323482.4 - 1 337 c.258C>G c.(256-258)ccC>ccG p.P86P ACSS1_ENST00000432802.2_Silent_p.P86P|ACSS1_ENST00000376726.3_Silent_p.P86P NM_001252675.1|NM_032501.3 NP_001239604.1|NP_115890.2 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 86 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CGGTGTGGTAGGGGGTGTCCC 0.662000 10 47 0 0 0.093190 0 0 FAM58A 92002 broad.mit.edu 37 X 152860004 152860004 + Splice_Site SNP C C A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chrX:152860004C>A ENST00000406277.2 - 5 526 c.e5+1 FAM58A_ENST00000370175.4_Splice_Site NM_001130997.1|NM_152274.3 NP_001124469.1|NP_689487.2 Q8N1B3 FA58A_HUMAN family with sequence similarity 58, member A regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCAGTATGTACCTTGTGTGGA 0.542000 36 96 6.05902e-23 6.8164e-23 0.193644 1 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 5 59 0 0 0.184627 0 0 MYO1A 4640 broad.mit.edu 37 12 57424944 57424944 + Silent SNP T T C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr12:57424944T>C ENST00000442789.2 - 24 2651 c.2364A>G c.(2362-2364)ctA>ctG p.L788L MYO1A_ENST00000300119.3_Silent_p.L788L|MYO1A_ENST00000544473.1_Silent_p.L626L NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 788 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TCAGCCCCAGTAGGAATTTCT 0.522000 28 164 0 0 0.144211 0 0 SPEN 23013 broad.mit.edu 37 1 16262679 16262680 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:16262679_16262680insC ENST00000375759.3 + 11 10148_10149 c.9944_9945insC c.(9943-9945)cccfs p.P3315fs NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3315 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CGCACCTACCACCCCCCGGCCC 0.629 7 143 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109807570 109807571 + Frame_Shift_Ins INS - - C rs115193384 byFrequency TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:109807570_109807571insC ENST00000271332.3 + 12 5606_5607 c.5545_5546insC c.(5545-5547)cccfs p.P1849fs NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1849 EGF-like 6; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CAAGCCCAGTGCCCCCCATGGC 0.564 7 268 --- --- --- --- WDR77 79084 broad.mit.edu 37 1 111991766 111991767 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:111991766_111991767insG ENST00000235090.5 - 1 231_232 c.25_26insC c.(25-27)agtfs p.S9fs WDR77_ENST00000411751.2_Frame_Shift_Ins_p.S9fs|ATP5F1_ENST00000369722.3_5'UTR NM_024102.2 NP_077007.1 Q9BQA1 MEP50_HUMAN WD repeat domain 77 9 ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding p.L9fs*1(1) NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) CGGGGGCACTAGGGGGGGTGGG 0.668 8 76 --- --- --- --- PIAS3 10401 broad.mit.edu 37 1 145578277 145578278 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:145578277_145578278insC ENST00000393045.2 + 2 330_331 c.240_241insC c.(238-243)ttccccfs p.FP80fs PIAS3_ENST00000369299.3_Frame_Shift_Ins_p.FP71fs|PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.FP80fs NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 80 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCTCTCTTTGCCCCCTGGCAC 0.624 7 1532 --- --- --- --- SLC50A1 55974 broad.mit.edu 37 1 155110672 155110673 + Frame_Shift_Ins INS - - A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:155110672_155110673insA ENST00000368404.4 + 6 643_644 c.581_582insA c.(580-582)gatfs p.D194fs SLC50A1_ENST00000303343.8_Frame_Shift_Ins_p.D140fs|SLC50A1_ENST00000484157.1_Frame_Shift_Ins_p.D129fs|SLC50A1_ENST00000368401.5_Frame_Shift_Ins_p.D139fs|SLC50A1_ENST00000368405.3_3'UTR NM_018845.3 NP_061333.2 Q9BRV3 SWET1_HUMAN solute carrier family 50 (sugar efflux transporter), member 1 194 Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2. positive regulation of gene expression, epigenetic Golgi membrane|integral to membrane|plasma membrane glucoside transmembrane transporter activity endometrium(1)|lung(1)|ovary(1)|skin(1) 4 AACTTTCCAGGAATCGTCACCA 0.520 30 104 --- --- --- --- SWT1 54823 broad.mit.edu 37 1 185183720 185183721 + Frame_Shift_Ins INS - - A TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:185183720_185183721insA ENST00000367500.4 + 14 2219_2220 c.2054_2055insA c.(2053-2055)taafs p.*685fs SWT1_ENST00000367501.3_Frame_Shift_Ins_p.*685fs NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 685 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGTACAAGGTCAAATTATGATG 0.381 35 131 --- --- --- --- FMN2 56776 broad.mit.edu 37 1 240255569 240255571 + In_Frame_Del DEL GGC GGC - rs71929261 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr1:240255569_240255571delGGC ENST00000319653.9 + 1 390_392 c.160_162delGGC c.(160-162)del p.G59del NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 59 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.G197delG(1) 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) GGGGGGAgggggcggcggcggcg 0.665 4 7 --- --- --- --- LOC101928553 101928553 broad.mit.edu 37 2 149629672 149629673 + RNA INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:149629672_149629673insC ENST00000601658.1 - 0 676 CTCTGGCCCTGCCCCCCCCCAA 0.441 3 6 --- --- --- --- HOXD8 3234 broad.mit.edu 37 2 176995416 176995417 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:176995416_176995417insC ENST00000313173.4 + 1 949_950 c.322_323insC c.(322-324)cccfs p.P108fs HOXD8_ENST00000544999.1_Frame_Shift_Ins_p.P108fs|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Frame_Shift_Ins_p.P108fs|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron NM_001199746.1|NM_019558.3 NP_001186675.1|NP_062458.1 P13378 HXD8_HUMAN homeobox D8 108 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) CTACCAGGCCGccccccctcct 0.743 11 205 --- --- --- --- STAT1 6772 broad.mit.edu 37 2 191862616 191862617 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:191862616_191862617insC ENST00000361099.3 - 9 1137_1138 c.750_751insG c.(748-753)ggcgccfs p.A251fs STAT1_ENST00000409465.1_Frame_Shift_Ins_p.A251fs|STAT1_ENST00000392322.3_Frame_Shift_Ins_p.A251fs|STAT1_ENST00000392323.2_Frame_Shift_Ins_p.A253fs|STAT1_ENST00000540176.1_3'UTR NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 251 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GCATTGGGCGGCCCCCCAATAC 0.475 8 293 --- --- --- --- CTLA4 1493 broad.mit.edu 37 2 204736166 204736166 + Frame_Shift_Del DEL T T - TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:204736166delT ENST00000302823.3 + 3 680 c.523delT c.(523-525)ttfs p.F176fs CTLA4_ENST00000472206.1_Intron|CTLA4_ENST00000295854.6_Intron|CTLA4_ENST00000427473.2_Intron|CTLA4_ENST00000487393.1_Intron NM_005214.4 NP_005205.2 P16410 CTLA4_HUMAN cytotoxic T-lymphocyte-associated protein 4 176 B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm large_intestine(4)|lung(4)|skin(1) 9 Abatacept(DB01281) TTCGGGGTTGTTTTTTTATAG 0.478 8 1085 --- --- --- --- PTPRN 5798 broad.mit.edu 37 2 220168477 220168478 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr2:220168477_220168478insG ENST00000295718.2 - 4 596_597 c.356_357insC c.(355-357)cgafs p.R119fs PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.R119fs|PTPRN_ENST00000423636.2_Frame_Shift_Ins_p.R29fs|AC114803.3_ENST00000417355.1_RNA NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 119 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) GACGGGGCTCTGGGGGGCGAAG 0.550 8 285 --- --- --- --- SUCLG2-AS1 101927111 broad.mit.edu 37 3 67941565 67941566 + RNA INS - - ACAC rs35166614 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr3:67941565_67941566insACAC ENST00000482677.1 + 0 1653 caataATAGATacacacacaca 0.356 6 2 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169890470 169890471 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr3:169890470_169890471insG ENST00000494943.1 - 3 242_243 c.174_175insC c.(172-177)ccgctcfs p.L59fs PHC3_ENST00000495893.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000474275.1_Frame_Shift_Ins_p.L55fs|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.L67fs|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.L71fs|PHC3_ENST00000467570.1_Frame_Shift_Ins_p.L71fs Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 59 multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) GCAGCTGAGCTGGGGGGCCGAT 0.441 10 920 --- --- --- --- YTHDC1 91746 broad.mit.edu 37 4 69188585 69188586 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr4:69188585_69188586insG ENST00000344157.4 - 11 1817_1818 c.1482_1483insC c.(1480-1485)ccatgafs p.*495fs YTHDC1_ENST00000579690.1_Frame_Shift_Ins_p.*495fs|YTHDC1_ENST00000355665.3_Frame_Shift_Ins_p.*477fs NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 495 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 ATACTTTCATCGGGGGGAAACA 0.426 7 197 --- --- --- --- CDK7 1022 broad.mit.edu 37 5 68572376 68572378 + In_Frame_Del DEL AAA AAA - TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr5:68572376_68572378delAAA ENST00000502604.1 + 10 1082_1084 c.592_594delAAA c.(592-594)del p.K198del CDK7_ENST00000514676.1_In_Frame_Del_p.K254del|CDK7_ENST00000256443.3_In_Frame_Del_p.K291del P50613 CDK7_HUMAN cyclin-dependent kinase 7 291 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) AAAGGCACTGAAAATGAAGTATT 0.389 Nucleotide excision repair (NER) 35 126 --- --- --- --- DDX39B 7919 broad.mit.edu 37 6 31500690 31500691 + Splice_Site INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr6:31500690_31500691insG ENST00000417556.2 - 8 1411 c.e8-2 DDX39B_ENST00000458640.1_Splice_Site|DDX39B_ENST00000376177.2_Splice_Site|DDX39B_ENST00000396172.1_Splice_Site|DDX39B_ENST00000415382.2_Splice_Site|ATP6V1G2-DDX39B_ENST00000376185.1_Splice_Site Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CTCCATTGGCTgggggggagga 0.579 9 153 --- --- --- --- SLC39A7 7922 broad.mit.edu 37 6 33171547 33171548 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr6:33171547_33171548insG ENST00000374677.3 + 7 1740_1741 c.1367_1368insG c.(1366-1368)cggfs p.R456fs SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.R456fs NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 456 CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CTGGGGCTGCTGGGGGGAGTTA 0.564 7 318 --- --- --- --- COL19A1 1310 broad.mit.edu 37 6 70916893 70916894 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr6:70916893_70916894insC ENST00000322773.4 + 51 3446_3447 c.3344_3345insC c.(3343-3345)gccfs p.A1115fs COL19A1_ENST00000393344.1_Frame_Shift_Ins_p.A737fs NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1115 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 GGCCCACAGGGCCCCCCAGGAC 0.525 8 609 --- --- --- --- LAMA2 3908 broad.mit.edu 37 6 129714239 129714240 + Frame_Shift_Ins INS - - G rs138296015 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr6:129714239_129714240insG ENST00000421865.2 + 37 5333_5334 c.5284_5285insG c.(5284-5286)gggfs p.G1762fs NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1762 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGGAGAGTCCCGGGGGGAAAAT 0.465 7 177 --- --- --- --- ALDH8A1 64577 broad.mit.edu 37 6 135253995 135253996 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr6:135253995_135253996insC ENST00000265605.2 - 5 835_836 c.767_768insG c.(766-768)gaafs p.E256fs ALDH8A1_ENST00000367845.2_Frame_Shift_Ins_p.E256fs|ALDH8A1_ENST00000367847.2_Frame_Shift_Ins_p.E206fs NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 256 retinal metabolic process cytoplasm retinal dehydrogenase activity p.G256D(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CAGGATTCTTGCCCCCCAGCTC 0.619 7 251 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38301855 38301856 + RNA DEL GT GT - TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:38301855_38301856delGT ENST00000443402.2 - 0 330 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TCAATTGTTCGTGTGTGTGTGT 0.356 9 419 --- --- --- --- TNS3 64759 broad.mit.edu 37 7 47385877 47385878 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:47385877_47385878insC ENST00000398879.1 - 18 2724_2725 c.2358_2359insG c.(2356-2361)ggagctfs p.A787fs TNS3_ENST00000355730.3_Frame_Shift_Ins_p.A547fs|TNS3_ENST00000311160.9_Frame_Shift_Ins_p.A787fs Q68CZ2 TENS3_HUMAN tensin 3 787 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 AAGGGCAGCTGCCCCCCAGCAT 0.604 10 403 --- --- --- --- EGFR 1956 broad.mit.edu 37 7 55249012 55249013 + In_Frame_Ins INS - - GGGTTA rs121913445 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:55249012_55249013insGGGTTA ENST00000275493.2 + 20 2487_2488 c.2310_2311insGGGTTA c.(2308-2313)gaaccc>gaGGGTTAaccc p.770_771EP>EG*P EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_In_Frame_Ins_p.717_718EP>EG*P|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_In_Frame_Ins_p.725_726EP>EG*P NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 770 Protein kinase. activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.D770_N771insSVD(9)|p.D770_N771insG(6)|p.N771>TH(1)|p.N771>GY(1)|p.N771_P772insRH(1)|p.N771>SH(1)|p.V769_D770insASV(1)|p.D770_N771insN(1)|p.D770_N771insNPH(1)|p.D770_N771>AGG(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771insAPW(1)|p.N771>GF(1)|p.D770_N771insMATP(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CCAGCGTGGACAACCCCCACGT 0.649 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 64 182 --- --- --- --- FBXO24 26261 broad.mit.edu 37 7 100187685 100187686 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:100187685_100187686insC ENST00000241071.6 + 2 447_448 c.125_126insC c.(124-126)tccfs p.S42fs FBXO24_ENST00000465843.1_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000360609.2_Frame_Shift_Ins_p.S42fs|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Frame_Shift_Ins_p.S80fs|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Frame_Shift_Ins_p.S30fs NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 42 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATCCAGTTGTTCCCCCCAGAGC 0.569 9 451 --- --- --- --- TRIM56 81844 broad.mit.edu 37 7 100732112 100732113 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr7:100732112_100732113insC ENST00000306085.6 + 3 1816_1817 c.1519_1520insC c.(1519-1521)cccfs p.P507fs NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 507 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) AGACAAGCGGTCCCCCCGGATC 0.658 7 344 --- --- --- --- TG 7038 broad.mit.edu 37 8 133906031 133906032 + Frame_Shift_Ins INS - - G rs114356482 byFrequency TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr8:133906031_133906032insG ENST00000220616.4 + 11 2898_2899 c.2858_2859insG c.(2857-2859)cggfs p.R953fs TG_ENST00000377869.1_Frame_Shift_Ins_p.R953fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 953 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CGGTTCCCTCTGGGGGAGAGTT 0.579 11 797 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142445062 142445063 + RNA INS - - G rs79308669 by1000genomes TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr8:142445062_142445063insG ENST00000606664.1 + 0 418_419 MROH5_ENST00000430863.1_RNA TGGGACGGGCTGGGGGCCCTGG 0.644 5 11 --- --- --- --- ABO 28 broad.mit.edu 37 9 136131057 136131057 + RNA DEL G G - rs8176750 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr9:136131057delG ENST00000453660.2 - 0 1071 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding p.P353fs?(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCCGCTCACGGGTTCCGGAC 0.662 9 12 --- --- --- --- AP2A2 161 broad.mit.edu 37 11 1009103 1009104 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr11:1009103_1009104insG ENST00000448903.2 + 19 2565_2566 c.2424_2425insG c.(2422-2427)taggggfs p.*G808fs AP2A2_ENST00000332231.5_Frame_Shift_Ins_p.*G809fs|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000534328.1_Intron NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 808 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CTGGCAGGTATGGGGGCACCTT 0.545 2 4 --- --- --- --- TUBA3C 7278 broad.mit.edu 37 13 19751596 19751597 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr13:19751596_19751597insG ENST00000400113.3 - 4 630_631 c.526_527insC c.(526-528)ggtfs p.G176fs NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 176 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) CGTGGAGACCTGGGGGGCTGGG 0.574 8 286 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 79066554 79066554 + RNA DEL T T - rs140080527 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr13:79066554delT ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000560209.2_RNA TGAAAAAAAATAATgaaagaa 0.403 2 4 --- --- --- --- CDH24 64403 broad.mit.edu 37 14 23523784 23523785 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr14:23523784_23523785insC ENST00000397359.3 - 5 973_974 c.714_715insG c.(712-717)ggtgtcfs p.V239fs CDH24_ENST00000487137.2_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000267383.5_Frame_Shift_Ins_p.V239fs|CDH24_ENST00000554034.1_Frame_Shift_Ins_p.V239fs NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 239 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTGCCTGACAGCCCCCCCATGT 0.609 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 73 --- --- --- --- IGHG2 3501 broad.mit.edu 37 14 106110246 106110247 + RNA INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr14:106110246_106110247insG ENST00000390545.2 - 0 370_371 CCTTGGGTTTTGGGGGGAAGAG 0.619 12 475 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72993508 72993509 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr16:72993508_72993509insC ENST00000268489.5 - 2 1208_1209 c.536_537insG c.(535-537)gaafs p.E179fs ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 179 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) CCCCTTGCTTGCCCCCCGCGCC 0.639 7 139 --- --- --- --- RP11-192H23.4 0 broad.mit.edu 37 17 26940601 26940602 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:26940601_26940602insC ENST00000534850.1 - 2 211_212 c.180_181insG c.(178-183)ggaccafs p.P61fs RP11-192H23.4_ENST00000577790.1_Frame_Shift_Ins_p.P60fs|SGK494_ENST00000301037.5_Frame_Shift_Ins_p.P61fs|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000424210.1_RNA endometrium(2)|kidney(2) 4 AGATAGTGGTGCCCCCGTAGTT 0.579 OREG0024279 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 585 --- --- --- --- PHF12 57649 broad.mit.edu 37 17 27244345 27244346 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:27244345_27244346insG ENST00000577226.1 - 7 1437_1438 c.1091_1092insC c.(1090-1092)caafs p.Q364fs PHF12_ENST00000332830.4_Frame_Shift_Ins_p.Q364fs|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Frame_Shift_Ins_p.Q364fs Q96QT6 PHF12_HUMAN PHD finger protein 12 364 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CACGCCGGTTAGGGGGGTGCTT 0.530 7 434 --- --- --- --- OMG 4974 broad.mit.edu 37 17 29622166 29622167 + Frame_Shift_Ins INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:29622166_29622167insG ENST00000247271.4 - 2 1444_1445 c.1183_1184insC c.(1183-1185)acafs p.T395fs NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron NM_002544.4 NP_002535.3 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein 395 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3)|p.Q395*(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) TGTGCTTTGTTGAGGCATTTCA 0.416 22 1173 --- --- --- --- AOC2 314 broad.mit.edu 37 17 40996940 40996941 + Frame_Shift_Ins INS - - C TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr17:40996940_40996941insC ENST00000253799.3 + 1 324_325 c.297_298insC c.(295-300)ctccccfs p.LP99fs AOC2_ENST00000452774.2_Frame_Shift_Ins_p.LP99fs NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 99 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AGCTGCAGCTGCCCCCCAAGGC 0.678 9 412 --- --- --- --- NPIPB1P 729602 broad.mit.edu 37 18 11625378 11625379 + RNA INS - - A rs141097667 TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr18:11625378_11625379insA ENST00000547442.1 - 0 621 CTCTTCCCCCGAAAAATGACAA 0.401 3 5 --- --- --- --- SLC17A7 57030 broad.mit.edu 37 19 49937127 49937128 + Splice_Site INS - - G TCGA-17-Z048-01A-01W-0746-08 TCGA-17-Z048-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8495e150-796b-4e15-9fa6-1fba558d7b10 8f42138c-1c2f-470c-b8d4-fea0b78abcef g.chr19:49937127_49937128insG ENST00000221485.3 - 7 896 c.e7-2 SLC17A7_ENST00000600601.1_Splice_Site|SLC17A7_ENST00000543531.1_Splice_Site NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 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;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) CGAAGCTGCCTGGGGGGGTCAG 0.678 7 133 --- --- --- ---