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 ATG2A 23130 broad.mit.edu 37 11 64678283 64678283 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:64678283G>A ENST00000421419.2 - 11 1724 c.1610C>T c.(1609-1611)aCg>aTg p.T537M ATG2A_ENST00000377264.3_Missense_Mutation_p.T537M Q2TAZ0 ATG2A_HUMAN autophagy related 2A 537 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CCTCACCTCCGTGTACTCAGG 0.677000 4 71 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143815 56143815 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:56143815C>T ENST00000302270.1 + 1 716 c.716C>T c.(715-717)tCg>tTg p.S239L NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) AAGGCTTTCTCGACGTGTGGC 0.473000 153 320 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26889954 26889954 + Silent SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:26889954T>C ENST00000231021.4 - 9 1675 c.1503A>G c.(1501-1503)aaA>aaG p.K501K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 501 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 CCTGCCCAGGTTTTGCATTTT 0.308000 181 200 0 0 1 0 0 TUFT1 7286 broad.mit.edu 37 1 151552137 151552137 + Missense_Mutation SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:151552137A>G ENST00000368849.3 + 11 999 c.937A>G c.(937-939)Aaa>Gaa p.K313E TUFT1_ENST00000538902.1_Missense_Mutation_p.K332E|TUFT1_ENST00000353024.3_Missense_Mutation_p.K254E|TUFT1_ENST00000368848.2_Missense_Mutation_p.K288E|TUFT1_ENST00000392712.3_Missense_Mutation_p.K258E NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 313 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CCAGAATTCAAAAGCTGTGAT 0.547000 19 98 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187680 11187680 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:11187680G>A ENST00000337414.4 - 9 2626 c.1754C>T c.(1753-1755)aCg>aTg p.T585M ARHGAP6_ENST00000413512.3_Missense_Mutation_p.T394M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.T382M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.T410M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.T382M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.T585M|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.T617M NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 585 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GATGATGGCCGTGCTCTCCTC 0.483000 86 425 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 3 18 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251409 43251409 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:43251409G>A ENST00000259750.4 + 14 3014 c.2931G>A c.(2929-2931)gcG>gcA p.A977A NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 977 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGGCCCGAGCGCCCCTGGAGA 0.697000 46 194 0 0 1 0 0 B3GALT1 8708 broad.mit.edu 37 2 168726199 168726199 + Missense_Mutation SNP G G A rs148250645 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:168726199G>A ENST00000305861.1 + 2 1001 c.650G>A c.(649-651)cGc>cAc p.R217H B3GALT1_ENST00000392690.2_Missense_Mutation_p.R217H|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA NM_020981.3 NP_066191.1 Q9Y5Z6 B3GT1_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1 217 lipid glycosylation|protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 CGGGATGTCCGCAGTAAGTGG 0.453000 93 200 0 0 1 0 0 IL34 146433 broad.mit.edu 37 16 70688501 70688501 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:70688501C>T ENST00000429149.2 + 3 644 c.89C>T c.(88-90)aCg>aTg p.T30M IL34_ENST00000569641.1_Intron|IL34_ENST00000566361.1_Missense_Mutation_p.T5M|IL34_ENST00000288098.2_Missense_Mutation_p.T30M NM_001172771.1|NM_152456.2 NP_001166242.1|NP_689669.2 Q6ZMJ4 IL34_HUMAN interleukin 34 30 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2) 17 TGGCCCTTGACGCAGAATGAG 0.572000 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 385 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542913 133542913 + Missense_Mutation SNP C C A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:133542913C>A ENST00000409261.1 - 14 1844 c.1471G>T c.(1471-1473)Gtt>Ttt p.V491F NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.V491F|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 491 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGGTTTGGAACTGCTTGGAGC 0.502000 14 471 3.27435e-08 3.38649e-08 1 1 0 POTEC 388468 broad.mit.edu 37 18 14542693 14542693 + Silent SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr18:14542693C>T ENST00000358970.5 - 1 452 c.453G>A c.(451-453)aaG>aaA p.K151K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 151 p.K151K(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTCTGGGGACCTTACCCCACC 0.592000 9 588 0 0 1 0 0 LRIT3 345193 broad.mit.edu 37 4 110791281 110791281 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:110791281G>A ENST00000327908.3 + 4 1591 c.827G>A c.(826-828)aGt>aAt p.S276N LRIT3_ENST00000594814.1_Missense_Mutation_p.S459N|LRIT3_ENST00000409621.2_Missense_Mutation_p.S276N|LRIT3_ENST00000379920.3_Missense_Mutation_p.S414N Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 414 Ig-like. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) AAGAATGGAAGTAAGCTTCCT 0.468000 10 252 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625875 29625875 + Missense_Mutation SNP T T C rs143761036 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:29625875T>C ENST00000278882.3 + 5 499 c.119T>C c.(118-120)aTc>aCc p.I40T FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T p.I40T(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGTACAGAATCGCCCTGAAA 0.358000 17 435 0 0 1 0 0 KLHL5 51088 broad.mit.edu 37 4 39083623 39083623 + Missense_Mutation SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:39083623A>T ENST00000261425.3 + 5 896 c.744A>T c.(742-744)ttA>ttT p.L248F KLHL5_ENST00000261426.5_Missense_Mutation_p.L233F|KLHL5_ENST00000359687.2_Missense_Mutation_p.L294F|KLHL5_ENST00000381930.3_Missense_Mutation_p.L294F|KLHL5_ENST00000504108.1_Missense_Mutation_p.L294F|KLHL5_ENST00000508137.2_Missense_Mutation_p.L107F NM_001007075.2 NP_001007076.1 Q96PQ7 KLHL5_HUMAN kelch-like family member 5 294 BTB. cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGTGCCTGTTATCTACAGCTT 0.343000 10 419 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113511003 113511003 + Missense_Mutation SNP T T A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:113511003T>A ENST00000505019.1 - 11 3129 c.3004A>T c.(3004-3006)Aca>Tca p.T1002S C4orf21_ENST00000309071.5_Missense_Mutation_p.T1002S NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 1002 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GGGCTCAATGTAGAGATGTTT 0.358000 104 151 0 0 1 0 0 CAPZA1 829 broad.mit.edu 37 1 113162485 113162485 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:113162485C>T ENST00000263168.3 + 1 691 c.19C>T c.(19-21)Cgt>Tgt p.R7C CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000463235.1_Intron NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 7 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTCGATGATCGTGTGTCGGA 0.667000 13 87 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000439954.2_Silent_p.G100G|FRG1B_ENST00000358464.4_Silent_p.G95G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 19 556 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 23 398 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6080794 6080794 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:6080794G>A ENST00000261405.5 - 44 7773 c.7519C>T c.(7519-7521)Cgg>Tgg p.R2507W NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2507 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GAGTCCCCCCGCGGTGAGCCA 0.612000 164 298 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204957892 204957892 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:204957892G>A ENST00000367172.4 + 25 3374 c.3046G>A c.(3046-3048)Ggg>Agg p.G1016R NFASC_ENST00000539706.1_Missense_Mutation_p.G1012R|NFASC_ENST00000338515.6_Missense_Mutation_p.G1016R|NFASC_ENST00000513543.1_Missense_Mutation_p.G1012R|NFASC_ENST00000360049.4_Missense_Mutation_p.G1012R|NFASC_ENST00000401399.1_Missense_Mutation_p.G909R|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.G1001R|NFASC_ENST00000404907.1_Missense_Mutation_p.G1012R|NFASC_ENST00000367170.4_Missense_Mutation_p.G1016R|NFASC_ENST00000338586.6_Missense_Mutation_p.G1016R|NFASC_ENST00000367169.4_Missense_Mutation_p.G909R|NFASC_ENST00000339876.6_Missense_Mutation_p.G909R|NFASC_ENST00000404076.1_Missense_Mutation_p.G995R O94856 NFASC_HUMAN neurofascin 1016 Fibronectin type-III 4. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGTGGGCTCTGGGGAAGCCGT 0.592000 9 451 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723522 49723522 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:49723522G>A ENST00000449682.2 - 9 1481 c.1120C>T c.(1120-1122)Cgt>Tgt p.R374C MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 360 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity p.R360C(2) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCTGTACAACGCCGGATCTGG 0.697000 4 109 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14749135 14749135 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:14749135G>A ENST00000253673.5 - 11 1366 c.1266C>T c.(1264-1266)atC>atT p.I422I EMR3_ENST00000599900.1_Silent_p.I207I|EMR3_ENST00000344373.4_Silent_p.I370I|EMR3_ENST00000443157.2_Silent_p.I296I NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 422 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AAGCACCGGCGATGATGGAGC 0.582000 29 165 0 0 1 0 0 CCT8 10694 broad.mit.edu 37 21 30434482 30434482 + Silent SNP G G A rs148753136 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr21:30434482G>A ENST00000286788.4 - 11 1385 c.1179C>T c.(1177-1179)gaC>gaT p.D393D CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Silent_p.D374D|CCT8_ENST00000540844.1_Silent_p.D320D NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 393 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding p.D393D(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 TAACACCATCGTCTACTGCCC 0.358000 11 481 0 0 1 0 0 JARID2 3720 broad.mit.edu 37 6 15497190 15497190 + Silent SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:15497190C>T ENST00000341776.2 + 7 1978 c.1734C>T c.(1732-1734)cgC>cgT p.R578R JARID2_ENST00000397311.3_Silent_p.R406R|JARID2_ENST00000541660.1_Silent_p.R540R NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 578 JmjN. central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) AGTCGGTCCGCGCTCAGGTGG 0.652000 23 86 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094379 72094379 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:72094379G>A ENST00000355906.5 + 7 869 c.811G>A c.(811-813)Gat>Aat p.D271N HP_ENST00000565574.1_Missense_Mutation_p.D212N|HP_ENST00000398131.2_Missense_Mutation_p.D212N|HP_ENST00000562526.1_Intron|HP_ENST00000570083.1_Missense_Mutation_p.D212N|HPR_ENST00000356967.5_Intron NM_005143.3 NP_005134.1 P00738 HPT_HUMAN haptoglobin 271 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) ACCTTCAAAGGATTATGCAGA 0.458000 24 280 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154394186 154394186 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:154394186G>A ENST00000435029.4 + 1 927 c.767G>A c.(766-768)cGt>cAt p.R256H NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 256 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GAAGGGGATCGTCTAAAAGAG 0.438000 173 183 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 6 87 3.59834e-05 3.64664e-05 1 1 0 ZNF733P 0 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 5 87 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420573 105420573 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:105420573G>A ENST00000333244.5 - 7 1334 c.1215C>T c.(1213-1215)tgC>tgT p.C405C NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 405 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGTTCCCTCGCAAAGTCTAG 0.622000 52 274 0 0 1 0 0 LPPR4 0 broad.mit.edu 37 1 99762345 99762345 + Missense_Mutation SNP G G C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:99762345G>C ENST00000370185.3 + 3 957 c.460G>C c.(460-462)Ggg>Cgg p.G154R LPPR4_ENST00000457765.1_Missense_Mutation_p.G154R NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 154 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AAGAAGAAATGGGGTCGGACT 0.463000 172 352 0 0 1 0 0 ZNF821 55565 broad.mit.edu 37 16 71913839 71913839 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:71913839C>T ENST00000425432.1 - 3 390 c.11G>A c.(10-12)cGg>cAg p.R4Q ZNF821_ENST00000564943.1_5'UTR|ZNF821_ENST00000564134.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000446827.2_Missense_Mutation_p.R4Q|RP11-498D10.4_ENST00000568581.1_Intron|ZNF821_ENST00000565601.1_Missense_Mutation_p.R4Q|ZNF821_ENST00000313565.6_Missense_Mutation_p.R4Q|RP11-498D10.4_ENST00000569119.1_Intron NM_001201552.1 NP_001188481.1 O75541 ZN821_HUMAN zinc finger protein 821 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R4L(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2) 13 TGTCTGTTTCCGACGGGACAT 0.438000 204 1156 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107849999 107849999 + Missense_Mutation SNP C C A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:107849999C>A ENST00000328300.6 + 29 2516 c.2272C>A c.(2272-2274)Cca>Aca p.P758T COL4A5_ENST00000361603.2_Missense_Mutation_p.P758T NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 758 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ATTACCTGGGCCACCTGGGCC 0.507000 Alport syndrome with Diffuse Leiomyomatosis 11 545 1.58986e-06 1.62209e-06 1 1 0 CROCCP2 0 broad.mit.edu 37 1 16945409 16945409 + RNA SNP T T A rs13566 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:16945409T>A ENST00000412962.1 - 0 2110 GCGGGATAGCTCGGTGGAGAG 0.612000 51 343 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32032006 32032006 + Missense_Mutation SNP G G C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:32032006G>C ENST00000360311.4 + 2 1984 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 479 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 TCATACTGGAGAGAAACCTTA 0.418000 7 460 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:20414346G>A ENST00000380338.4 - 5 784 c.498C>T c.(496-498)agC>agT p.S166S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 166 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S166S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.527000 T MLL ALL 13 293 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 434610 434610 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:434610G>A ENST00000316418.5 + 12 1865 c.1821G>A c.(1819-1821)tcG>tcA p.S607S AHRR_ENST00000506456.1_Silent_p.S445S|AHRR_ENST00000512529.1_Silent_p.S435S|AHRR_ENST00000505113.1_Silent_p.S589S NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 589 Needed for transcriptional repression (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) TGTACATCTCGCACCTGGGGC 0.667000 59 118 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 7 378 0 0 1 0 0 SNHG14 0 broad.mit.edu 37 15 25470355 25470355 + RNA SNP A A C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:25470355A>C ENST00000453082.2 + 0 1061 SNORD115-30_ENST00000364117.1_RNA NR_003343.1 GGGTTGGGTCAATGATGAGAA 0.488000 128 668 0 0 1 0 0 CAPZA1 829 broad.mit.edu 37 1 113162484 113162484 + Missense_Mutation SNP T T A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:113162484T>A ENST00000263168.3 + 1 690 c.18T>A c.(16-18)gaT>gaA p.D6E CAPZA1_ENST00000476936.1_3'UTR|ST7L_ENST00000463235.1_Intron NM_006135.2 NP_006126.1 P52907 CAZA1_HUMAN capping protein (actin filament) muscle Z-line, alpha 1 6 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1) 9 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTCGATGATCGTGTGTCGG 0.672000 13 88 0 0 1 0 0 AICDA 57379 broad.mit.edu 37 12 8757515 8757515 + Missense_Mutation SNP T T A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:8757515T>A ENST00000229335.6 - 4 534 c.431A>T c.(430-432)tAt>tTt p.Y144F AICDA_ENST00000537228.1_Intron NM_020661.2 NP_065712.1 Q9GZX7 AICDA_HUMAN activation-induced cytidine deaminase 144 B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing cytoplasm cytidine deaminase activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1) 16 Lung SC(5;0.184) GCAGTAAAAATAATCTTCAAA 0.428000 25 193 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24262175 24262175 + Missense_Mutation SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:24262175A>G ENST00000295148.4 - 2 247 c.190T>C c.(190-192)Tcc>Ccc p.S64P C2orf44_ENST00000406895.3_Missense_Mutation_p.S64P NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 64 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGGCCCAGGACAACCCACAG 0.517000 T ALK NSCLC 82 203 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51133050 51133050 + Missense_Mutation SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:51133050A>T ENST00000338916.4 - 3 1686 c.1053T>A c.(1051-1053)ttT>ttA p.F351L SYT3_ENST00000544769.1_Missense_Mutation_p.F351L|SYT3_ENST00000593901.1_Missense_Mutation_p.F351L|SYT3_ENST00000600079.1_Missense_Mutation_p.F351L NM_032298.2 NP_115674.1 Q9BQG1 SYT3_HUMAN synaptotagmin III 351 C2 1. cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CCTTGGTCTGAAACTTTTTCT 0.632000 155 217 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8609328 8609328 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:8609328G>A ENST00000338257.8 - 14 1644 c.1377C>T c.(1375-1377)agC>agT p.S459S NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 459 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CGTCCAAGACGCTCATGATGC 0.667000 24 112 0 0 1 0 0 CEPT1 10390 broad.mit.edu 37 1 111702113 111702113 + Nonsense_Mutation SNP G G T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:111702113G>T ENST00000545121.1 + 3 659 c.451G>T c.(451-453)Gaa>Taa p.E151* CEPT1_ENST00000357172.4_Nonsense_Mutation_p.E151* NM_001007794.1 NP_001007795.1 Q9Y6K0 CEPT1_HUMAN choline/ethanolamine phosphotransferase 1 151 endoplasmic reticulum membrane|integral to membrane|nuclear membrane diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 8 all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141) Choline(DB00122) TCCTCTGGGAGAACTTTTTGA 0.378000 148 372 4.85366e-67 5.19789e-67 1 1 0 MST1L 0 broad.mit.edu 37 1 17084768 17084768 + RNA SNP G G C rs151331911 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:17084768G>C ENST00000455405.2 - 0 248 TAGAGACCCCGCGCAGAAATG 0.572000 5 102 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845990 18845990 + RNA SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:18845990C>T ENST00000412938.1 + 0 3348 ACCTCCATCCCGTCCTGCGCA 0.582000 20 113 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110655943 110655943 + Missense_Mutation SNP G G A rs150790899 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:110655943G>A ENST00000242591.5 + 19 2449 c.1943G>A c.(1942-1944)tGt>tAt p.C648Y IFT81_ENST00000552912.1_Missense_Mutation_p.C648Y NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 648 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 TTAATGGAATGTAAGAAACAG 0.388000 156 400 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62299013 62299013 + Missense_Mutation SNP T T G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:62299013T>G ENST00000378024.4 - 5 3150 c.2876A>C c.(2875-2877)aAa>aCa p.K959T AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 959 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCCCTTTACTTTAGGACCTTT 0.483000 26 1015 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23596046 23596046 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:23596046G>A ENST00000305877.8 + 2 2091 c.1340G>A c.(1339-1341)cGc>cAc p.R447H BCR_ENST00000359540.3_Missense_Mutation_p.R447H NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 447 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 GAGGAGCAGCGCCGGCACCAA 0.622000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 82 196 0 0 1 0 0 AC226119.5 0 broad.mit.edu 37 4 3954855 3954855 + RNA SNP G G T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:3954855G>T ENST00000281228.8 - 0 143 FAM86EP_ENST00000313946.8_RNA AAAATATCCCGCCGCAGCTCA 0.493000 6 278 6.40141e-05 6.44409e-05 1 1 0 PCSK2 5126 broad.mit.edu 37 20 17417442 17417442 + Missense_Mutation SNP G G A rs144151196 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:17417442G>A ENST00000262545.2 + 8 1114 c.799G>A c.(799-801)Gcc>Acc p.A267T PCSK2_ENST00000377899.1_Missense_Mutation_p.A248T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A232T NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 267 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CATCTACAGCGCCAGCTGGGG 0.617000 76 202 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 13 201 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113675589 113675589 + Splice_Site SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:113675589C>T ENST00000003302.4 - 20 2648 c.e20+1 USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCTCTTCTCACCTTTCATCAT 0.428000 96 268 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122626196 122626196 + Silent SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr10:122626196A>T ENST00000263461.6 + 8 1356 c.1110A>T c.(1108-1110)gcA>gcT p.A370A NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 370 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 ATGAGAATGCAGCCGCCCTCG 0.473000 167 304 0 0 1 0 0 AP3M2 10947 broad.mit.edu 37 8 42023053 42023053 + Silent SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:42023053C>T ENST00000518421.1 + 7 1069 c.778C>T c.(778-780)Ctg>Ttg p.L260L AP3M2_ENST00000396926.3_Silent_p.L260L|AP3M2_ENST00000517922.1_Silent_p.L260L|AP3M2_ENST00000174653.3_Silent_p.L260L|AP3M2_ENST00000520685.1_Intron NM_001134296.1 NP_001127768.1 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 260 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1) 17 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) CTTCCGCCTGCTGTCTTACCA 0.453000 18 764 0 0 1 0 0 LUZP1 7798 broad.mit.edu 37 1 23420022 23420022 + Missense_Mutation SNP C C G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:23420022C>G ENST00000302291.4 - 4 1534 c.733G>C c.(733-735)Ggc>Cgc p.G245R LUZP1_ENST00000374623.3_Missense_Mutation_p.G245R|LUZP1_ENST00000418342.1_Missense_Mutation_p.G245R|LUZP1_ENST00000314174.5_Missense_Mutation_p.G245R Q86V48 LUZP1_HUMAN leucine zipper protein 1 245 nucleus NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2) 31 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) GAAGAGATGCCATCCTCAATC 0.393000 120 282 0 0 1 0 0 SLC7A3 84889 broad.mit.edu 37 X 70149579 70149579 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:70149579C>T ENST00000374299.3 - 2 413 c.269G>A c.(268-270)cGg>cAg p.R90Q SLC7A3_ENST00000298085.4_Missense_Mutation_p.R90Q Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 90 cellular nitrogen compound metabolic process integral to membrane|plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ACGGGGAACCCGGGCACCAAA 0.542000 33 95 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52903953 52903953 + Missense_Mutation SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:52903953T>C ENST00000261844.7 - 4 375 c.223A>G c.(223-225)Agg>Ggg p.R75G FAM214A_ENST00000546305.2_Missense_Mutation_p.R82G NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 75 ACCTCAGACCTAGTTCGTCTG 0.403000 27 162 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3293394 3293394 + Missense_Mutation SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:3293394T>C ENST00000219596.1 - 10 2132 c.2093A>G c.(2092-2094)gAg>gGg p.E698G MEFV_ENST00000536379.1_Missense_Mutation_p.E487G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Missense_Mutation_p.E518G NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 698 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CGCCTGGTACTCATTTTCCTT 0.532000 197 425 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57698417 57698417 + Missense_Mutation SNP T T A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:57698417T>A ENST00000413566.2 - 11 1314 c.955A>T c.(955-957)Agc>Tgc p.S319C EXOC5_ENST00000340918.7_Missense_Mutation_p.S254C NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 319 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 ATCAGCTTGCTGGAAAGATTG 0.303000 72 140 0 0 1 0 0 PCDHA7 0 broad.mit.edu 37 5 140215907 140215907 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:140215907C>T ENST00000525929.1 + 1 1939 c.1939C>T c.(1939-1941)Ctt>Ttt p.L647F PCDHA7_ENST00000378125.3_Missense_Mutation_p.L647F|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCCACCGCCTTCTGGTGCT 0.672000 6 260 0 0 1 0 0 ZNF784 147808 broad.mit.edu 37 19 56135868 56135868 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:56135868G>A ENST00000325351.4 - 1 99 c.60C>T c.(58-60)tcC>tcT p.S20S ZNF784_ENST00000591479.1_Silent_p.S20S NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) GTGGCTCCTGGGATCGCGACT 0.716000 9 48 0 0 1 0 0 KCNH1 3756 broad.mit.edu 37 1 210856924 210856924 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:210856924C>T ENST00000367007.4 - 11 2757 c.2588G>A c.(2587-2589)cGc>cAc p.R863H KCNH1_ENST00000271751.4_Missense_Mutation_p.R890H NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 890 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GTTGTCCAGGCGCAAGTCGCT 0.592000 11 266 0 0 1 0 0 SLC9B2 133308 broad.mit.edu 37 4 103988646 103988646 + Missense_Mutation SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:103988646T>C ENST00000394785.3 - 2 693 c.62A>G c.(61-63)tAc>tGc p.Y21C SLC9B2_ENST00000339611.4_Missense_Mutation_p.Y21C|SLC9B2_ENST00000505838.1_5'UTR|SLC9B2_ENST00000503230.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000503103.1_Missense_Mutation_p.Y21C|SLC9B2_ENST00000362026.3_Missense_Mutation_p.Y21C NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 21 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity GGAGGGCGTGTAATTCATTCC 0.373000 12 421 0 0 1 0 0 ALMS1P 0 broad.mit.edu 37 2 73901099 73901099 + RNA SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:73901099C>T ENST00000450720.1 + 0 897 NR_003683.2 CCACCAGAATCGCATGCGCCC 0.552000 7 97 0 0 1 0 0 SLC6A2 6530 broad.mit.edu 37 16 55733527 55733527 + Missense_Mutation SNP G G T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:55733527G>T ENST00000379906.2 + 11 1806 c.1551G>T c.(1549-1551)tgG>tgT p.W517C SLC6A2_ENST00000414754.3_Missense_Mutation_p.W517C|SLC6A2_ENST00000561820.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000219833.8_Missense_Mutation_p.W517C|SLC6A2_ENST00000568943.1_Missense_Mutation_p.W517C|SLC6A2_ENST00000567238.1_Missense_Mutation_p.W412C|SLC6A2_ENST00000566163.1_Missense_Mutation_p.W472C NM_001043.3 NP_001034.1 P23975 SC6A2_HUMAN solute carrier family 6 (neurotransmitter transporter), member 2 517 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) GTCTATACTGGAGACTGTGCT 0.592000 38 201 1.30998e-17 1.38327e-17 1 1 0 FAM126A 84668 broad.mit.edu 37 7 23000935 23000935 + Silent SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:23000935A>G ENST00000432176.2 - 9 982 c.750T>C c.(748-750)aaT>aaC p.N250N FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_Silent_p.N250N NM_032581.3 NP_115970.2 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 250 cytoplasm|membrane signal transducer activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2) 23 CCCATTCTCCATTATAACTAT 0.294000 48 599 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2473140 2473140 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:2473140G>A ENST00000258711.6 + 2 1001 c.866G>A c.(865-867)cGc>cAc p.R289H NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 289 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) GCCTCGGCGCGCGAGGCCTTC 0.652000 99 451 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625885 29625885 + Missense_Mutation SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:29625885A>T ENST00000278882.3 + 5 509 c.129A>T c.(127-129)aaA>aaT p.K43N FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N p.K43N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TCGCCCTGAAATCTGGCTATG 0.353000 12 473 0 0 1 0 0 MTO1 25821 broad.mit.edu 37 6 74210401 74210401 + Silent SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:74210401A>G ENST00000498286.1 + 12 2299 c.2022A>G c.(2020-2022)tcA>tcG p.S674S MTO1_ENST00000370300.4_Silent_p.S699S|MTO1_ENST00000415954.2_Silent_p.S714S|MTO1_ENST00000370305.1_Silent_p.S625S Q9Y2Z2 MTO1_HUMAN mitochondrial tRNA translation optimization 1 699 tRNA processing mitochondrion flavin adenine dinucleotide binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1) 27 TGAATGAATCATCCAAGACTG 0.398000 7 323 0 0 1 0 0 OR5H15 403274 broad.mit.edu 37 3 97887879 97887879 + Silent SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:97887879T>C ENST00000356526.2 + 1 336 c.336T>C c.(334-336)tgT>tgC p.C112C NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 CCACAGAATGTTTTCTCTTGG 0.378000 11 727 0 0 1 0 0 RP11-204M4.2 0 broad.mit.edu 37 9 41962620 41962620 + RNA SNP G G A rs137865170 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:41962620G>A ENST00000454645.1 - 0 884 NR_003670.1 TCCTCTTACAGGAATCCCCTT 0.363000 27 314 0 0 1 0 0 CAD 790 broad.mit.edu 37 2 27449518 27449518 + Splice_Site SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:27449518G>A ENST00000264705.4 + 14 2318 c.e14+1 CAD_ENST00000403525.1_Splice_Site NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTGAGCTCAGGTACGAGGATG 0.542000 55 119 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16262018 16262018 + Nonsense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:16262018C>T ENST00000375759.3 + 11 9487 c.9283C>T c.(9283-9285)Cag>Tag p.Q3095* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 3095 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) CCACCTCTCCCAGGGCGAGGT 0.617000 36 236 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142806254 142806254 + RNA SNP A A G rs114813183 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:142806254A>G ENST00000423385.1 - 0 88 CATTTTGCATAAACTGTGTGT 0.353000 6 56 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 32 57 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 5 183 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18845998 18845998 + RNA SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:18845998G>A ENST00000412938.1 + 0 3356 CCCGTCCTGCGCAGGCCGACA 0.607000 21 120 0 0 1 0 0 PCDHB17 0 broad.mit.edu 37 5 140537004 140537004 + Silent SNP C C T rs246697 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:140537004C>T ENST00000539533.1 + 1 1428 c.1428C>T c.(1426-1428)gcC>gcT p.A476A GTGTCAGCGCCACAGACAGAG 0.642000 11 637 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 12 259 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A A T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:22664115A>T ENST00000426066.1 + 0 638 NR_027293.1 TGTTTAATTCAGCCTTGGAAG 0.413000 10 450 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 8 322 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 22 434 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826995 143826995 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:143826995C>T ENST00000408899.2 + 1 845 c.790C>T c.(790-792)Cgc>Tgc p.R264C NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) CCCCAAGTCCCGCCATCCTGA 0.542000 146 447 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T T C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:195505813T>C ENST00000463781.3 - 2 13097 c.12638A>G c.(12637-12639)gAc>gGc p.D4213G MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213G(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.592000 3 18 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 7 279 7.48243e-07 7.68603e-07 1 1 0 PCDHGB7 0 broad.mit.edu 37 5 140798705 140798705 + Missense_Mutation SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:140798705A>G ENST00000398594.2 + 1 1279 c.1279A>G c.(1279-1281)Agg>Ggg p.R427G PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCACAGACAGGGGCAAGCC 0.512000 5 173 0 0 1 0 0 PTPN5 84867 broad.mit.edu 37 11 18763931 18763931 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:18763931G>A ENST00000396170.1 - 7 1771 c.507C>T c.(505-507)atC>atT p.I169I PTPN5_ENST00000477854.1_Silent_p.I5I|PTPN5_ENST00000396168.1_Silent_p.I177I|PTPN5_ENST00000396171.4_Silent_p.I201I|PTPN5_ENST00000396167.2_Silent_p.I169I|PTPN5_ENST00000358540.2_Silent_p.I201I|PTPN5_ENST00000496201.2_5'UTR NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 201 integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AGTCATCCTCGATCTTCTCCT 0.617000 51 261 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154342 22154342 + Missense_Mutation SNP A A C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:22154342A>C ENST00000397126.4 - 4 3642 c.3494T>G c.(3493-3495)gTa>gGa p.V1165G ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGGTTTCTCTACAGTATGAAT 0.363000 7 230 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130827607 130827607 + Missense_Mutation SNP C C T rs144603967 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:130827607C>T ENST00000245255.3 + 3 423 c.151C>T c.(151-153)Cgg>Tgg p.R51W NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 51 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGGCCGTGGACGGCAGAGAGG 0.443000 63 129 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 7 172 0 0 1 0 0 PGPEP1L 145814 broad.mit.edu 37 15 99512680 99512680 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:99512680G>A ENST00000535714.1 - 4 988 c.183C>T c.(181-183)gaC>gaT p.D61D RP11-654A16.3_ENST00000559468.1_RNA|PGPEP1L_ENST00000378919.6_Silent_p.D115D NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like 115 proteolysis cysteine-type peptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 AAAAGATCACGTCGACACCCT 0.632000 82 445 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 11 405 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67048254 67048254 + Splice_Site SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:67048254C>T ENST00000308595.5 + 7 845 c.555_splice c.e7+1 p.H185_splice ADRBK1_ENST00000526285.1_Splice_Site_p.H185_splice NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 185 N-terminal. SDKFTRFCQWKNVELNIH -> RISSHGFASGRMWSSTST (in Ref. 3; AAB60689). activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TCAACATCCACGTGAGTGGGC 0.597000 315 706 0 0 1 0 0 WBP7 0 broad.mit.edu 37 19 36219013 36219013 + Silent SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:36219013G>A ENST00000222270.7 + 19 4512 c.4512G>A c.(4510-4512)gcG>gcA p.A1504A KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Silent_p.A1504A NM_014727.1 NP_055542.1 TAGAATCTGCGTTCGGCTGGT 0.632000 4 42 0 0 1 0 0 ECT2 1894 broad.mit.edu 37 3 172534509 172534509 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:172534509C>T ENST00000417960.1 + 24 2918 c.2441C>T c.(2440-2442)aCt>aTt p.T814I ECT2_ENST00000392692.3_Missense_Mutation_p.T846I|ECT2_ENST00000427830.1_Missense_Mutation_p.T815I|ECT2_ENST00000232458.5_Missense_Mutation_p.T815I|ECT2_ENST00000540509.1_Missense_Mutation_p.T846I|ECT2_ENST00000441497.2_Missense_Mutation_p.T815I NM_001258316.1 NP_001245245.1 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 815 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TTCTCCAAAACTCCAAAAAGA 0.378000 77 185 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240745 39240745 + Missense_Mutation SNP A A G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:39240745A>G ENST00000391417.4 + 1 287 c.287A>G c.(286-288)aAg>aGg p.K96R NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 agctgctgcaagccccagtgc 0.682000 4 80 0 0 1 0 0 ZNF462 58499 broad.mit.edu 37 9 109689499 109689499 + Silent SNP A A C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:109689499A>C ENST00000277225.5 + 3 3595 c.3306A>C c.(3304-3306)ccA>ccC p.P1102P ZNF462_ENST00000457913.1_Silent_p.P1102P Q96JM2 ZN462_HUMAN zinc finger protein 462 1102 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CACCCCCCCCACAACCCCCGC 0.527000 8 179 0 0 1 0 0 POM121L9P 0 broad.mit.edu 37 22 24658515 24658515 + RNA SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:24658515C>T ENST00000414583.2 + 0 2932 NR_003714.1 TCATCATCACCGACATGTCCT 0.562000 39 90 0 0 1 0 0 MOV10L1 54456 broad.mit.edu 37 22 50589311 50589311 + Missense_Mutation SNP G G A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:50589311G>A ENST00000262794.5 + 21 2958 c.2875G>A c.(2875-2877)Gca>Aca p.A959T MOV10L1_ENST00000395843.1_Intron|MOV10L1_ENST00000395852.1_Missense_Mutation_p.A86T|MOV10L1_ENST00000395858.3_Missense_Mutation_p.A959T|MOV10L1_ENST00000545383.1_Missense_Mutation_p.A959T|MOV10L1_ENST00000540615.1_Missense_Mutation_p.A939T|MOV10L1_ENST00000354853.2_Intron NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 959 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGCTTGTGGCGCACATAATCC 0.577000 33 51 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38939147 38939147 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:38939147C>T ENST00000355481.4 + 10 1084 c.953C>T c.(952-954)tCc>tTc p.S318F RYR1_ENST00000359596.3_Missense_Mutation_p.S318F|RYR1_ENST00000360985.3_Missense_Mutation_p.S318F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 318 MIR 4. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTCCGCATCTCCAAGGTCAGT 0.642000 12 711 0 0 1 0 0 SF1 7536 broad.mit.edu 37 11 64533556 64533556 + Missense_Mutation SNP C C T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:64533556C>T ENST00000377390.3 - 13 1991 c.1654G>A c.(1654-1656)Gca>Aca p.A552T SF1_ENST00000334944.5_Missense_Mutation_p.A552T|SF1_ENST00000227503.9_Intron|SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.A526T|SF1_ENST00000377394.3_Intron NM_004630.3 NP_004621.2 Q15637 SF01_HUMAN splicing factor 1 552 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex protein binding|RNA binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 GGAGAAGCTGCGGCAGCCGCC 0.682000 76 162 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:4772583_4772585delCCA ENST00000378191.4 + 2 1034_1036 c.653_655delCCA c.(652-657)gcc>g p.AT218del AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 218 Thr-rich. cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane p.T225_A226insT(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ACTGTGGccgccaccaccaccac 0.635 8 208 --- --- --- --- CAMTA1 23261 broad.mit.edu 37 1 7811329 7811329 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:7811329delA ENST00000303635.7 + 20 4967 c.4760delA c.(4759-4761)cafs p.Q1587fs CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs|CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1587 IQ 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.K1589fs*33(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TACTATGAACAAAAAAAATTC 0.473 T WWTR1 epitheliod hemangioendothelioma 12 1502 --- --- --- --- RERE 473 broad.mit.edu 37 1 8716322 8716327 + In_Frame_Del DEL TCTTTG TCTTTG - rs3831914 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:8716322_8716327delTCTTTG ENST00000337907.3 - 3 664_669 c.30_35delCAAAGA c.(28-36)gag>ga p.DKE10del RERE_ENST00000400908.2_In_Frame_Del_p.DKE10del|RERE_ENST00000400907.2_In_Frame_Del_p.DKE10del NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 10 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ccggtccttctctttgtctttgtctt 0.539 7 1576 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785494 12785494 + Frame_Shift_Del DEL G G - rs7513079 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:12785494delG ENST00000332530.3 + 3 600 c.374delG c.(373-375)ttfs p.C125fs AADACL3_ENST00000359318.5_Frame_Shift_Del_p.C195fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 195 hydrolase activity breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCTACTGTTTTTTTCAA 0.458 8 1137 --- --- --- --- ZBTB40 9923 broad.mit.edu 37 1 22838561 22838563 + In_Frame_Del DEL AAG AAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:22838561_22838563delAAG ENST00000404138.1 + 12 2906_2908 c.2395_2397delAAG c.(2395-2397)del p.K803del ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 803 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CGATGCCCCCAAGAAGAAGAAGA 0.517 10 334 --- --- --- --- ZMPSTE24 10269 broad.mit.edu 37 1 40756542 40756543 + Frame_Shift_Ins INS - - T rs137854889 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:40756542_40756543insT ENST00000372759.3 + 9 1241_1242 c.1076_1077insT c.(1075-1077)tttfs p.F359fs NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 359 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) TCTTTCCTGTGTTTTTTTTTAT 0.332 7 383 --- --- --- --- IPP 3652 broad.mit.edu 37 1 46184897 46184898 + Frame_Shift_Del DEL AC AC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:46184897_46184898delAC ENST00000396478.3 - 6 1265_1266 c.1163_1164delGT c.(1162-1164)tfs p.C388fs NM_005897.2 NP_005888.1 Q9Y573 IPP_HUMAN intracisternal A particle-promoted polypeptide 388 actin cytoskeleton|cytoplasm actin binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2) 20 Acute lymphoblastic leukemia(166;0.155) TAGCCCCATAACACACACACAC 0.347 12 335 --- --- --- --- SLC16A4 9122 broad.mit.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:110906426_110906427insA ENST00000369779.4 - 9 1674_1675 c.1425_1426insT c.(1423-1428)tttaccfs p.T476fs SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs NM_001201547.1|NM_004696.2 NP_001188476.1|NP_004687.1 O15374 MOT5_HUMAN solute carrier family 16, member 4 476 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.F475fs*12(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2) 16 all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14) Pyruvic acid(DB00119) GCCAATGGTACAAAAAAAAAGG 0.391 15 464 --- --- --- --- ADAM30 11085 broad.mit.edu 37 1 120436591 120436591 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:120436591delT ENST00000369400.1 - 1 2527 c.2369delA c.(2368-2370)agfs p.K790fs NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 790 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) GCCCGGTTACTTTTTTTGTTT 0.358 8 1587 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 9 85 --- --- --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:154245864_154245866delGAA ENST00000328703.7 + 2 319_321 c.106_108delGAA c.(106-108)del p.E40del HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron|HAX1_ENST00000483970.2_In_Frame_Del_p.E40del NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 Kostmann syndrome 7 389 --- --- --- --- KCNN3 3782 broad.mit.edu 37 1 154842331 154842339 + In_Frame_Del DEL TGCTGCTGC TGCTGCTGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:154842331_154842339delTGCTGCTGC ENST00000271915.3 - 1 417_425 c.102_110delGCAGCAGCA c.(100-111)caa>ca p.QQQQ38del NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 38 Poly-Gln. integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ctgctgctgttgctgctgctgctgctgct 0.665 12 34 --- --- --- --- FCRL3 115352 broad.mit.edu 37 1 157659622 157659624 + In_Frame_Del DEL AGC AGC - rs150584408 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:157659622_157659624delAGC ENST00000368184.3 - 10 2065_2067 c.1774_1776delGCT c.(1774-1776)del p.A592del FCRL3_ENST00000368186.5_In_Frame_Del_p.A592del|FCRL3_ENST00000473231.1_5'UTR NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 592 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) AATGCAGCAGAGCAGCAGCAGCA 0.552 7 229 --- --- --- --- NOS1AP 9722 broad.mit.edu 37 1 162326888 162326890 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:162326888_162326890delCAG ENST00000361897.5 + 8 1303_1305 c.901_903delCAG c.(901-903)del p.Q306del NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 306 Poly-Gln. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) gcagctcctccagcagcAGCAGC 0.611 9 448 --- --- --- --- PTPN14 5784 broad.mit.edu 37 1 214557049 214557051 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:214557049_214557051delCCT ENST00000366956.5 - 13 2341_2343 c.2147_2149delAGG c.(2146-2151)gct>g p.EA716del PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 716 Poly-Glu. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding p.E716delE(1) NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GATTCTGGAGCCTCCTCCTCCTC 0.626 7 285 --- --- --- --- ACBD3 64746 broad.mit.edu 37 1 226352490 226352491 + Splice_Site INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:226352490_226352491insT ENST00000366812.5 - 3 622_623 c.569_splice c.e3+1 p.E190_splice NM_022735.3 NP_073572.2 Q9H3P7 GCP60_HUMAN acyl-CoA binding domain containing 3 190 Glu-rich. steroid biosynthetic process|transport Golgi membrane|integral to membrane|mitochondrion fatty-acyl-CoA binding|protein binding breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2) 20 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.121) CAAACTTCACCTTTTTTTTTCT 0.411 7 364 --- --- --- --- RYR2 6262 broad.mit.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr1:237969494delT ENST00000366574.2 + 99 14526 c.14209delT c.(14209-14211)ttfs p.F4739fs RYR2_ENST00000360064.6_Frame_Shift_Del_p.F4745fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.F4723fs NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4739 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTATAACAACTTTTTTTTTGC 0.403 8 214 --- --- --- --- AC019118.2 0 broad.mit.edu 37 2 2910722 2910723 + RNA INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:2910722_2910723insT ENST00000457478.1 - 0 594 tccaccccctctccccagccca 0.708 7 13 --- --- --- --- SOX11 6664 broad.mit.edu 37 2 5833526 5833528 + In_Frame_Del DEL GAC GAC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:5833526_5833528delGAC ENST00000322002.3 + 1 728_730 c.673_675delGAC c.(673-675)del p.D233del NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 233 Poly-Asp. cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) TCTGGATGAGgacgacgacgacg 0.700 8 117 --- --- --- --- C2orf71 388939 broad.mit.edu 37 2 29295647 29295649 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:29295647_29295649delTCC ENST00000331664.5 - 1 1478_1480 c.1479_1481delGGA c.(1477-1482)gaa>ga p.EE493del NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 493 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CATTTTGTCTTCCTCCTCCTCCT 0.542 13 703 --- --- --- --- RMDN2 151393 broad.mit.edu 37 2 38178783 38178783 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:38178783delT ENST00000407257.1 + 2 572 c.425delT c.(424-426)atfs p.I142fs RMDN2_ENST00000417700.2_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AAGAGTGCCATTTTTTTTGAT 0.333 9 535 --- --- --- --- SMYD5 10322 broad.mit.edu 37 2 73453009 73453011 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:73453009_73453011delGAG ENST00000389501.4 + 13 1237_1239 c.1192_1194delGAG c.(1192-1194)del p.E403del NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 403 Glu-rich. metal ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 ggaagaggaagaggaggaggagg 0.562 8 541 --- --- --- --- GCFC2 6936 broad.mit.edu 37 2 75914998 75914999 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:75914998_75914999insT ENST00000321027.3 - 11 1777_1778 c.1644_1645insA c.(1642-1647)aatcttfs p.NL548fs GCFC2_ENST00000541687.1_3'UTR|MRPL19_ENST00000358788.6_Intron|GCFC2_ENST00000409857.3_Frame_Shift_Ins_p.NL510fs NM_001201334.1|NM_003203.4 NP_001188263.1|NP_003194.3 P16383 GCF_HUMAN GC-rich sequence DNA-binding factor 2 548 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity GCAGACAAGACTTTTTTATCTG 0.342 68 448 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 11 216 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 24 693 --- --- --- --- EIF5B 9669 broad.mit.edu 37 2 99977775 99977777 + In_Frame_Del DEL TGA TGA - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:99977775_99977777delTGA ENST00000289371.5 + 4 613_615 c.411_413delTGA c.(409-414)agt>ag p.SD137del NM_015904.3 NP_056988.3 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 137 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 ACTCTGGGAGTGATGATGATGAT 0.345 8 586 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:109087883_109087884insA ENST00000309863.6 + 6 2812_2813 c.2098_2099insA c.(2098-2100)aaafs p.K700fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 700 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 ACTCAGTTCAGAAAAAAAACAG 0.307 7 1337 --- --- --- --- KLHL41 10324 broad.mit.edu 37 2 170366496 170366496 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:170366496delA ENST00000284669.1 + 1 285 c.208delA c.(208-210)aafs p.K72fs BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron NM_006063.2 NP_006054.2 kelch-like family member 41 TGATGAGGCGAAAAAAAAGGA 0.388 7 874 --- --- --- --- CIR1 9541 broad.mit.edu 37 2 175213712 175213713 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:175213712_175213713insT ENST00000342016.3 - 10 957_958 c.865_866insA c.(865-867)acafs p.T289fs CIR1_ENST00000362053.5_3'UTR NM_004882.3 NP_004873.3 Q86X95 CIR1_HUMAN corepressor interacting with RBPJ, 1 289 Lys/Ser-rich. mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1) 15 cttcctttgtatttttttttct 0.381 7 363 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201437004 201437004 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr2:201437004delT ENST00000357799.4 + 7 2033 c.1935delT c.(1933-1935)aafs p.N645fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 645 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AAAAAGGTAATTTTTTTTTCA 0.333 7 713 --- --- --- --- EDEM1 9695 broad.mit.edu 37 3 5248941 5248941 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:5248941delT ENST00000256497.4 + 7 1454 c.1321delT c.(1321-1323)ttfs p.F442fs EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 442 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TCTGCAGGCCTTTTTCCCTGG 0.463 10 582 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220653 53220653 + Frame_Shift_Del DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:53220653delG ENST00000394729.2 + 13 1622 c.1294delG c.(1294-1296)ggfs p.G433fs PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 433 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) GTTCCTCAACGGGGGGGACCT 0.602 7 1824 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65372850 65372851 + Frame_Shift_Del DEL TC TC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:65372850_65372851delTC ENST00000330909.8 - 15 2466_2467 c.2467_2468delGA c.(2467-2469)afs p.E823fs MAGI1_ENST00000483466.1_Frame_Shift_Del_p.E823fs|MAGI1_ENST00000497477.2_Intron|MAGI1_ENST00000402939.2_Intron NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 823 PDZ 4. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) GGAATTGATTTCTCTCTCTCTC 0.401 12 312 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 27 648 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:151148114_151148116delCAG ENST00000474524.1 + 42 6369_6371 c.6331_6333delCAG c.(6331-6333)del p.Q2115del MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 12 415 --- --- --- --- PHC3 80012 broad.mit.edu 37 3 169896635 169896637 + In_Frame_Del DEL TGG TGG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:169896635_169896637delTGG ENST00000494943.1 - 2 136_138 c.68_70delCCA c.(67-72)atc>a p.TI23del PHC3_ENST00000467570.1_In_Frame_Del_p.TI35del|PHC3_ENST00000474275.1_In_Frame_Del_p.TI23del|PHC3_ENST00000495893.1_In_Frame_Del_p.TI35del|PHC3_ENST00000497658.1_In_Frame_Del_p.TI35del|PHC3_ENST00000481639.1_In_Frame_Del_p.TI35del Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 23 Poly-Thr. 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) GAAgtggtgatggtggtggtggt 0.493 11 1223 --- --- --- --- FXR1 0 broad.mit.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:180666228delA ENST00000357559.4 + 5 748 c.364delA c.(364-366)aafs p.K123fs FXR1_ENST00000445140.2_Frame_Shift_Del_p.K123fs|FXR1_ENST00000480918.1_Frame_Shift_Del_p.K110fs|FXR1_ENST00000491062.1_Frame_Shift_Del_p.K74fs|FXR1_ENST00000468861.1_Frame_Shift_Del_p.K38fs|FXR1_ENST00000305586.7_Frame_Shift_Del_p.K38fs NM_001013438.2|NM_005087.3 NP_001013456.1|NP_005078.2 P51114 FXR1_HUMAN fragile X mental retardation, autosomal homolog 1 123 apoptosis|cell differentiation|muscle organ development nucleolus|polysome p.N124fs*14(1) breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2) 26 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) TAAAACTGTCAAAAAAAATAC 0.333 9 325 --- --- --- --- LINC00969 0 broad.mit.edu 37 3 195400639 195400641 + RNA DEL GTG GTG - rs145880653 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr3:195400639_195400641delGTG ENST00000445430.1 + 0 1284 AGGTGGGCTTGTGGAGGAATGGG 0.552 8 97 --- --- --- --- OTOP1 133060 broad.mit.edu 37 4 4204225 4204229 + Frame_Shift_Del DEL TTGAG TTGAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:4204225_4204229delTTGAG ENST00000296358.4 - 4 700_704 c.676_680delCTCAA c.(676-681)tfs p.LN226fs NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 226 biomineral tissue development extracellular space|integral to membrane p.L226fs*1(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTTGTGCTCATTGAGTTGGTGCTTT 0.502 11 528 --- --- --- --- POLR2B 5431 broad.mit.edu 37 4 57871589 57871589 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:57871589delA ENST00000381227.1 + 9 1491 c.1078delA c.(1078-1080)aafs p.K361fs POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs P30876 RPB2_HUMAN polymerase (RNA) II (DNA directed) polypeptide B, 140kDa 361 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TTGTGAGACCAAAAAAGCCTA 0.313 8 443 --- --- --- --- CDS1 1040 broad.mit.edu 37 4 85556475 85556475 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:85556475delT ENST00000295887.5 + 8 1204 c.781delT c.(781-783)ttfs p.F263fs NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 263 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) CCTTTTTGGATTTTTTTTTGG 0.308 15 487 --- --- --- --- HERC5 51191 broad.mit.edu 37 4 89381266 89381266 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr4:89381266delA ENST00000264350.3 + 3 563 c.410delA c.(409-411)gafs p.E137fs HERC5_ENST00000508695.1_3'UTR NM_016323.3 NP_057407.2 Q9UII4 HERC5_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 5 137 innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) ATTTTACAAGAAAAAAAAATA 0.274 10 117 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 13 323 --- --- --- --- ZFR 51663 broad.mit.edu 37 5 32419951 32419953 + In_Frame_Del DEL GGT GGT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:32419951_32419953delGGT ENST00000265069.8 - 3 495_497 c.393_395delACC c.(391-396)ccc>cc p.PP131del NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 131 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) AGTAGCTGGGGGTGGTGGTGGTG 0.483 8 1254 --- --- --- --- AC026703.1 0 broad.mit.edu 37 5 32789822 32789823 + Frame_Shift_Del DEL GT GT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:32789822_32789823delGT ENST00000326958.1 + 1 878_879 c.315_316delGT c.(313-318)gggtfs p.GC105fs NPR3_ENST00000265074.8_3'UTR CTGATTTTGGGTGTGTGTGTGT 0.421 10 630 --- --- --- --- PPARGC1B 133522 broad.mit.edu 37 5 149216400 149216402 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:149216400_149216402delCAG ENST00000309241.5 + 8 2414_2416 c.2382_2384delCAG c.(2380-2385)gac>ga p.DS794del PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 794 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.S795N(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TCTTTGAAGACAGCAGCAGCAGC 0.601 14 539 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 16 11 --- --- --- --- JARID2 3720 broad.mit.edu 37 6 15496635 15496636 + Frame_Shift_Ins INS - - G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:15496635_15496636insG ENST00000341776.2 + 7 1423_1424 c.1179_1180insG c.(1177-1182)ctggggfs p.LG393fs JARID2_ENST00000397311.3_Frame_Shift_Ins_p.LG221fs|JARID2_ENST00000541660.1_Frame_Shift_Ins_p.LG355fs NM_004973.3 NP_004964.2 Q92833 JARD2_HUMAN jumonji, AT rich interactive domain 2 393 central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent chromatin binding p.L393L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGCTATCCCTCGGGGGGGCGTC 0.574 7 472 --- --- --- --- SLC17A2 10246 broad.mit.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:25921520delT ENST00000377850.3 - 4 885 c.361delA c.(361-363)tgfs p.M121fs SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs O00624 NPT3_HUMAN solute carrier family 17, member 2 121 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.M121fs*7(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 GCACCAAGCATTTTTTTTGCT 0.453 7 345 --- --- --- --- PPT2 9374 broad.mit.edu 37 6 32130627 32130627 + Frame_Shift_Del DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:32130627delG ENST00000324816.6 + 9 1377 c.809delG c.(808-810)cgfs p.R270fs PPT2-EGFL8_ENST00000422437.1_Intron|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000395523.1_Frame_Shift_Del_p.R270fs|PPT2_ENST00000375143.2_Frame_Shift_Del_p.R270fs|PPT2_ENST00000375137.2_Frame_Shift_Del_p.R270fs|PPT2_ENST00000361568.2_Frame_Shift_Del_p.R276fs|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 270 protein modification process lysosome palmitoyl-(protein) hydrolase activity p.R276Q(1) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 17 CTATTGGCCCGGGGGGCCATA 0.537 8 1010 --- --- --- --- SYNGAP1 8831 broad.mit.edu 37 6 33411201 33411203 + In_Frame_Del DEL CAC CAC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:33411201_33411203delCAC ENST00000418600.2 + 15 2973_2975 c.2872_2874delCAC c.(2872-2874)del p.H966del SYNGAP1_ENST00000428982.2_In_Frame_Del_p.H907del|SYNGAP1_ENST00000293748.5_In_Frame_Del_p.H966del|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 966 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TTCCTCccatcaccaccaccacc 0.645 9 814 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:111587361delT ENST00000368847.4 + 4 949 c.596delT c.(595-597)atfs p.I199fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 199 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTTTCTGTCATTTTTTTTTGT 0.368 8 246 --- --- --- --- OLIG3 167826 broad.mit.edu 37 6 137815210 137815212 + In_Frame_Del DEL TGG TGG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:137815210_137815212delTGG ENST00000367734.2 - 1 319_321 c.96_98delCCA c.(94-99)cag>ca p.HQ32del NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 32 Poly-His. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Q33K(1) endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) ACGGCTCTCCtggtggtggtggt 0.596 7 519 --- --- --- --- LPAL2 0 broad.mit.edu 37 6 160931971 160931972 + RNA INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr6:160931971_160931972insA ENST00000335388.5 - 0 166 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AATTATTACACAAAAAAAACTA 0.322 8 496 --- --- --- --- PMS2CL 0 broad.mit.edu 37 7 6771674 6771675 + RNA INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:6771674_6771675insT ENST00000486256.1 + 0 619 NR_002217.1 ttttttttttctttttttttgg 0.421 9 284 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:24705666delA ENST00000396475.2 + 9 1209 c.910delA c.(910-912)aafs p.K308fs MPP6_ENST00000222644.4_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 308 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 7 989 --- --- --- --- HOXA11 3207 broad.mit.edu 37 7 27222461 27222462 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:27222461_27222462insT ENST00000006015.3 - 2 966_967 c.895_896insA c.(895-897)taafs p.*299fs NM_005523.5 NP_005514.1 P31270 HXA11_HUMAN homeobox A11 299 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 16 GTCTCTGTTAATTTTTTTTTCC 0.446 T NUP98 CML 10 862 --- --- --- --- TRGC2 0 broad.mit.edu 37 7 38279531 38279532 + RNA INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:38279531_38279532insA ENST00000436911.2 - 0 661_662 TGAAATGGCCCAAACCCAGAAA 0.426 36 77 --- --- --- --- INHBA 3624 broad.mit.edu 37 7 41729741 41729743 + In_Frame_Del DEL TTC TTC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:41729741_41729743delTTC ENST00000242208.4 - 3 1032_1034 c.786_788delGAA c.(784-789)aaa>aa p.KK262del INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA NM_002192.2 NP_002183.1 P08476 INHBA_HUMAN inhibin, beta A 262 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ctcctcttctttcttcttcttct 0.581 TSP Lung(11;0.080) 10 417 --- --- --- --- PKD1L1 168507 broad.mit.edu 37 7 47944773 47944773 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:47944773delT ENST00000289672.2 - 11 1722 c.1672delA c.(1672-1674)gafs p.R558fs NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 558 PKD 1. cell-cell adhesion integral to membrane p.R558fs*10(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATGCTGAGTCTTTTTTTAATG 0.443 7 764 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 231 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 AGCACCCCCCACACAGGACCG 0.657 11 1311 --- --- --- --- C7orf63 79846 broad.mit.edu 37 7 89929188 89929188 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:89929188delA ENST00000389297.4 + 17 2116 c.1865delA c.(1864-1866)cafs p.Q622fs C7orf63_ENST00000316089.8_Frame_Shift_Del_p.Q622fs|C7orf63_ENST00000497910.1_Frame_Shift_Del_p.Q604fs NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 622 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AAGTTGAACCAAAAAAAATTC 0.303 11 1203 --- --- --- --- CYP51A1 1595 broad.mit.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:91752494delT ENST00000003100.8 - 7 1191 c.1026delA c.(1024-1026)aafs p.K342fs CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 336 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTAAATAACATTTTTTTTGAA 0.398 9 1790 --- --- --- --- RELN 5649 broad.mit.edu 37 7 103629803 103629804 + Translation_Start_Site INS - - GCCGCC TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:103629803_103629804insGCCGCC ENST00000424685.2 - 0 159_160 RELN_ENST00000343529.5_Start_Codon_Ins|RELN_ENST00000428762.1_Start_Codon_Ins P78509 RELN_HUMAN reelin axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCGCTCCATgccgccgccgc 0.723 8 30 --- --- --- --- TRBV7-4 0 broad.mit.edu 37 7 142176678 142176679 + RNA DEL CA CA - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:142176678_142176679delCA ENST00000390369.2 - 0 49 GTAGTCATCGCACACACACACA 0.460 8 221 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151874148 151874148 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:151874148delT ENST00000355193.2 - 38 8608 c.8390delA c.(8389-8391)agfs p.K2797fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.K2797fs lysine (K)-specific methyltransferase 2C p.K2797fs*26(20) TTCTTGTTCCTTTTTTTTTGG 0.348 19 397 --- --- --- --- XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr7:152346220delA ENST00000359321.1 - 3 435 c.350delT c.(349-351)tgfs p.L117fs XRCC2_ENST00000495707.1_5'UTR NM_005431.1 NP_005422.1 O43543 XRCC2_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity p.V118fs*5(1) NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2) 11 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 Homologous recombination 9 349 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del P11686 PSPC_HUMAN surfactant protein C 44 respiratory gaseous exchange extracellular space autonomic_ganglia(1)|large_intestine(1)|lung(1) 3 Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CCTTCTTATCGTGGTGGTGGTGG 0.601 7 412 --- --- --- --- GOT1L1 137362 broad.mit.edu 37 8 37791833 37791834 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:37791833_37791834insT ENST00000307599.4 - 9 1342_1343 c.1243_1244insA c.(1243-1245)actfs p.T415fs NM_152413.2 NP_689626.2 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 415 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1) 14 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) TCCAATCAGTGTTTTTTTTTCC 0.371 8 325 --- --- --- --- STAU2 27067 broad.mit.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:74507471delT ENST00000355780.5 - 10 1213 c.995delA c.(994-996)atfs p.N332fs STAU2_ENST00000523558.1_Frame_Shift_Del_p.N192fs|STAU2_ENST00000521451.1_Frame_Shift_Del_p.N144fs|STAU2_ENST00000524300.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000521727.1_Frame_Shift_Del_p.N344fs|STAU2_ENST00000521210.1_Frame_Shift_Del_p.N260fs|STAU2_ENST00000519961.1_Frame_Shift_Del_p.N364fs|STAU2_ENST00000522509.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000522695.1_Frame_Shift_Del_p.N332fs|STAU2_ENST00000517542.1_Frame_Shift_Del_p.N326fs NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 364 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding p.N332fs*67(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TTCTGCAGCATTTTTTTTGGC 0.328 10 543 --- --- --- --- PABPC1 26986 broad.mit.edu 37 8 101730036 101730037 + Frame_Shift_Ins INS - - C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:101730036_101730037insC ENST00000318607.5 - 3 1595_1596 c.467_468insG c.(466-468)gaafs p.E156fs PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.E124fs|PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.E111fs NM_002568.3 NP_002559.2 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 156 RRM 2. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 40 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CATTCATTTTTTCAATAGCTCT 0.337 43 453 --- --- --- --- UBR5 51366 broad.mit.edu 37 8 103289348 103289349 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:103289348_103289349insT ENST00000520539.1 - 45 6966_6967 c.6360_6361insA c.(6358-6363)aaaaggfs p.R2121fs UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2121 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E2121fs*28(2) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTTCCCCTTCTTTTTTTTGCC 0.381 11 939 --- --- --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:110455173_110455174insG ENST00000378402.5 + 36 4497 c.e36-1 NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 HNSCC(38;0.096) 8 687 --- --- --- --- ZC3H3 23144 broad.mit.edu 37 8 144621235 144621235 + Frame_Shift_Del DEL C C - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr8:144621235delC ENST00000262577.5 - 2 333 c.302delG c.(301-303)gcfs p.G101fs NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 101 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) AGGAGGCTGGCCCCCCCGGGC 0.632 7 851 --- --- --- --- KANK1 23189 broad.mit.edu 37 9 732475 732477 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:732475_732477delGAG ENST00000382303.1 + 10 3755_3757 c.3103_3105delGAG c.(3103-3105)del p.E1039del KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 1039 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCTTGAAGAAGAGGAGGAGGAGG 0.463 8 432 --- --- --- --- MLLT3 4300 broad.mit.edu 37 9 20414278 20414280 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:20414278_20414280delCTG ENST00000380338.4 - 5 850_852 c.564_566delCAG c.(562-567)agt>ag p.SS188del MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_In_Frame_Del_p.SS185del|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 188 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S188S(1) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) ACTGGTActactgctgctgctgc 0.507 T MLL ALL 7 640 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971196 21971198 + In_Frame_Del DEL CAT CAT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:21971196_21971198delCAT ENST00000579755.1 - 2 495_497 c.203_205delATG c.(202-207)ggg>g p.DG68del CDKN2A_ENST00000497750.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.M3del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000479692.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.M54del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.DG109del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.M3del|CDKN2A_ENST00000530628.2_In_Frame_Del_p.DG68del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.M54del|RP11-145E5.5_ENST00000404796.2_Intron P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 44 A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(45)|p.M53_R58del(3)|p.M54fs*92(2)|p.M54fs*61(2)|p.M54fs*66(2)|p.0(1)|p.V28_V51del(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GGGCGCTGCCCATCATCATGACC 0.680 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 21 38 --- --- --- --- NFX1 0 broad.mit.edu 37 9 33294464 33294465 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:33294464_33294465insA ENST00000379540.3 + 2 134_135 c.72_73insA c.(70-75)gaaaaafs p.EK24fs NFX1_ENST00000379521.4_Frame_Shift_Ins_p.EK24fs|NFX1_ENST00000318524.6_Frame_Shift_Ins_p.EK24fs NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 24 Interaction with PABPC1 and PABC4. inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TTCCTCAGGAGAAAAAAAATTC 0.366 10 746 --- --- --- --- HRCT1 646962 broad.mit.edu 37 9 35906348 35906350 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:35906348_35906350delCTG ENST00000354323.2 + 1 160_162 c.64_66delCTG c.(64-66)del p.L28del NM_001039792.1 NP_001034881.1 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 28 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1) 4 TGTGGCGGTCctgctgctgctgc 0.670 11 125 --- --- --- --- NFIL3 4783 broad.mit.edu 37 9 94172779 94172779 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:94172779delT ENST00000297689.3 - 2 632 c.238delA c.(238-240)ggfs p.R81fs NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 81 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 TTTTTCCGCCTTTTTTCCCAA 0.423 8 1602 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486026 94486028 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:94486026_94486028delTCC ENST00000375708.3 - 9 2946_2948 c.2748_2750delGGA c.(2746-2751)gaa>ga p.EE916del ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 916 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GACAGAGCCTTCCTCCTCCTCCT 0.645 7 522 --- --- --- --- ECM2 1842 broad.mit.edu 37 9 95277146 95277148 + In_Frame_Del DEL TCC TCC - rs137929518 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:95277146_95277148delTCC ENST00000344604.5 - 4 968_970 c.819_821delGGA c.(817-822)gat>ga p.ED273del ECM2_ENST00000444490.2_In_Frame_Del_p.ED251del|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 273 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 ctcctcctcatcctcctcctcct 0.606 11 885 --- --- --- --- FOXE1 2304 broad.mit.edu 37 9 100616701 100616706 + In_Frame_Del DEL GCCGCC GCCGCC - rs11279082 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:100616701_100616706delGCCGCC ENST00000375123.3 + 1 1166_1171 c.505_510delGCCGCC c.(505-510)del p.AA177del NM_004473.3 NP_004464.2 O00358 FOXE1_HUMAN forkhead box E1 (thyroid transcription factor 2) 177 Ala-rich.|Poly-Ala. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(62;0.158) Ggctgccgcagccgccgccgccgccg 0.767 15 54 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135944558 135944560 + In_Frame_Del DEL AAG AAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr9:135944558_135944560delAAG ENST00000372080.4 + 9 1223_1225 c.1207_1209delAAG c.(1207-1209)del p.K405del CEL_ENST00000351304.7_In_Frame_Del_p.K402del NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 402 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CCAGGAGAATAAGAAGAAGACTG 0.571 7 74 --- --- --- --- JMJD1C 221037 broad.mit.edu 37 10 64952699 64952699 + Splice_Site DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr10:64952699delT ENST00000399262.2 - 16 6293 c.6076_splice c.e16+1 p.K2025_splice JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Splice_Site_p.K1843_splice|JMJD1C_ENST00000402544.1_Splice_Site_p.K1788_splice NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 2025 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TATGTTTACCTTTTTTTTCCT 0.373 8 530 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96331163 96331163 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr10:96331163delA ENST00000348459.5 + 7 559 c.454delA c.(454-456)aafs p.K153fs HELLS_ENST00000394036.1_Stop_Codon_Del|HELLS_ENST00000394044.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Frame_Shift_Del_p.K153fs|HELLS_ENST00000371332.4_Frame_Shift_Del_p.K153fs NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 153 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GTCTGTGGCTAAAAAAAATAA 0.254 8 138 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr10:98336475delT ENST00000371142.4 - 2 430 c.214delA c.(214-216)gtfs p.S72fs NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 72 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 11 635 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 15 1310 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del|NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 7 576 --- --- --- --- CKAP5 9793 broad.mit.edu 37 11 46829683 46829683 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:46829683delT ENST00000529230.1 - 8 922 c.876delA c.(874-876)aafs p.K292fs CKAP5_ENST00000312055.5_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000354558.3_Frame_Shift_Del_p.K292fs|CKAP5_ENST00000415402.1_Frame_Shift_Del_p.K292fs Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 292 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTCTTGCCATTTTTTTGCCT 0.363 7 1179 --- --- --- --- RPLP0P2 0 broad.mit.edu 37 11 61405017 61405019 + RNA DEL CTG CTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:61405017_61405019delCTG ENST00000496593.1 + 0 1621_1623 NR_002775.2 acagctgctcctgctgctgctgc 0.557 7 213 --- --- --- --- SLC22A9 114571 broad.mit.edu 37 11 63149668 63149669 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:63149668_63149669insA ENST00000279178.3 + 6 1241_1242 c.992_993insA c.(991-993)gcafs p.A331fs SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 331 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 CTGGAGGCAGCACAAAAAAAAA 0.406 11 770 --- --- --- --- RTN3 10313 broad.mit.edu 37 11 63525655 63525656 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:63525655_63525656insA ENST00000377819.5 + 9 3235_3236 c.3081_3082insA c.(3079-3084)gcaaaafs p.AK1027fs RTN3_ENST00000339997.4_Frame_Shift_Ins_p.AK1008fs|RTN3_ENST00000341307.2_Frame_Shift_Ins_p.K212fs|RTN3_ENST00000354497.4_Frame_Shift_Ins_p.Q146fs|RTN3_ENST00000537981.1_Frame_Shift_Ins_p.AK231fs|RTN3_ENST00000356000.3_Frame_Shift_Ins_p.AK250fs|RTN3_ENST00000540798.1_Frame_Shift_Ins_p.AK915fs NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 1027 Interaction with FADD.|Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 CTGGAATCGCCAAAAAAAAGGC 0.337 8 258 --- --- --- --- KDM2A 22992 broad.mit.edu 37 11 67018079 67018081 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:67018079_67018081delGAG ENST00000529006.2 + 17 3024_3026 c.2578_2580delGAG c.(2578-2580)del p.E866del KDM2A_ENST00000530342.1_In_Frame_Del_p.E427del|KDM2A_ENST00000308783.5_In_Frame_Del_p.E324del|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Intron NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 866 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 ggaggaggaagaggaggaggagg 0.655 8 164 --- --- --- --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:76506673_76506675delCTG ENST00000527881.1 + 2 1039_1041 c.13_15delCTG c.(13-15)del p.L9del TSKU_ENST00000333090.4_In_Frame_Del_p.L9del Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 18 324 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr11:108788635_108788637delTGA ENST00000526794.1 + 17 2372_2374 c.2340_2342delTGA c.(2338-2343)agt>ag p.SD780del DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 780 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) TGGATTGGAGtgatgatgatgat 0.355 T NUP98 AML* 10 430 --- --- --- --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + RNA INS - - C rs36063533 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:7080212_7080213insC ENST00000546220.1 + 0 157_158 U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA Q92979 NEP1_HUMAN EMG1 N1-specific pseudouridine methyltransferase ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 9 59 --- --- --- --- TAS2R50 259296 broad.mit.edu 37 12 11139431 11139432 + Frame_Shift_Ins INS - - A rs79147066 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:11139431_11139432insA ENST00000506868.1 - 1 79_80 c.28_29insT c.(28-30)aatfs p.N10fs PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron NM_176890.2 NP_795371.2 P59544 T2R50_HUMAN taste receptor, type 2, member 50 10 sensory perception of taste integral to membrane G-protein coupled receptor activity p.S10fs*3(2)|p.S10fs*25(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1) 17 TATTAGAATTGAAAAAAAAATG 0.317 8 368 --- --- --- --- NEUROD4 58158 broad.mit.edu 37 12 55421128 55421128 + Frame_Shift_Del DEL C C - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:55421128delC ENST00000242994.3 + 2 1283 c.905delC c.(904-906)acfs p.T302fs NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 302 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 CAGGCTGGTACCCCCCGTTAT 0.468 7 2995 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 8 1207 --- --- --- --- SMARCC2 6601 broad.mit.edu 37 12 56558379 56558381 + In_Frame_Del DEL AGG AGG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:56558379_56558381delAGG ENST00000550164.1 - 28 3381_3383 c.3367_3369delCCT c.(3367-3369)del p.P1123del SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1092 Pro-rich. HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694). chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGATGGAGCAGGAGGAGGAGGA 0.591 8 220 --- --- --- --- TMBIM4 51643 broad.mit.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:66531936_66531937insA ENST00000358230.3 - 7 640_641 c.520_521insT c.(520-522)tagfs p.*174fs TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Ins_p.*221fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Ins_p.*143fs|TMBIM4_ENST00000398033.4_Frame_Shift_Ins_p.S159fs|TMBIM4_ENST00000556010.1_Intron NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 174 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) TATCTCACTATAAAAAAAAAAC 0.351 15 247 --- --- --- --- ZFC3H1 196441 broad.mit.edu 37 12 72057256 72057258 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:72057256_72057258delGCT ENST00000378743.3 - 1 491_493 c.133_135delAGC c.(133-135)del p.S45del ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCCGCCGCCGCTGCTGCTGCTG 0.631 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 788 --- --- --- --- TMEM19 55266 broad.mit.edu 37 12 72094757 72094757 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:72094757delT ENST00000266673.5 + 6 1587 c.993delT c.(991-993)ggfs p.G331fs NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 331 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CTGCTTGGGGTTTTTGGCCCA 0.433 8 1052 --- --- --- --- TMTC3 160418 broad.mit.edu 37 12 88566417 88566417 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:88566417delT ENST00000266712.6 + 8 1314 c.1094delT c.(1093-1095)ctfs p.L365fs NM_181783.3 NP_861448.2 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat containing 3 365 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GCATCGAACCTTTTTTTTCCA 0.313 7 684 --- --- --- --- NCOR2 9612 broad.mit.edu 37 12 124848228 124848228 + Frame_Shift_Del DEL G G - rs12321697 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr12:124848228delG ENST00000356219.3 - 22 3080 c.2925delC c.(2923-2925)ccfs p.P975fs NCOR2_ENST00000404621.1_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.P528fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.P958fs|NCOR2_ENST00000429285.2_Frame_Shift_Del_p.P957fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.P975fs NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 975 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CACTCACGATGGGGGGGATGG 0.652 7 874 --- --- --- --- TPTE2 93492 broad.mit.edu 37 13 20041394 20041394 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:20041394delA ENST00000400230.2 - 7 527 c.483delT c.(481-483)ttfs p.F161fs TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron|TPTE2_ENST00000382977.4_Frame_Shift_Del_p.F161fs Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 161 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACTTAATGTCAAAAAAAATGT 0.303 7 478 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426143 20426145 + In_Frame_Del DEL CAT CAT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:20426143_20426145delCAT ENST00000337963.4 - 3 440_442 c.176_178delATG c.(175-180)gtt>g p.DV59del ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 59 Poly-Asp. nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) ATAAACACAAcatcatcatcatc 0.379 13 798 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25517701 25517702 + RNA INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:25517701_25517702insT ENST00000429698.1 - 0 374 ACCATTTGCTATTTTTTTTTCT 0.426 8 442 --- --- --- --- RP11-248G5.8 0 broad.mit.edu 37 13 52796688 52796688 + RNA DEL C C - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:52796688delC ENST00000451298.1 - 0 1229 RP11-64P12.8_ENST00000606031.1_RNA cgctattgctccccacccatc 0.537 11 112 --- --- --- --- FBXL3 26224 broad.mit.edu 37 13 77581683 77581683 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:77581683delA ENST00000355619.5 - 5 1208 c.884delT c.(883-885)tafs p.L295fs FBXL3_ENST00000477982.1_Intron NM_012158.2 NP_036290.1 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 295 regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L295fs*3(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1) 16 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TTCTTCATATAAAAAAAAATA 0.418 8 295 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:95696016delT ENST00000376887.4 - 29 3769 c.3655delA c.(3655-3657)tcfs p.I1219fs ABCC4_ENST00000412704.1_Frame_Shift_Del_p.I1172fs NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1219 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCTCCCGGATTTTTTTTTGT 0.378 8 489 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)del p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 8 275 --- --- --- --- CHD8 57680 broad.mit.edu 37 14 21884031 21884031 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:21884031delT ENST00000399982.2 - 5 1816 c.1752delA c.(1750-1752)aafs p.K584fs CHD8_ENST00000557364.1_Frame_Shift_Del_p.K584fs|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Frame_Shift_Del_p.K305fs NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 584 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CCTCTGTATATTTTTTTCGCT 0.398 9 757 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)del p.S187del RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 15 388 --- --- --- --- PSMA6 5687 broad.mit.edu 37 14 35782215 35782216 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:35782215_35782216insA ENST00000261479.4 + 5 658_659 c.538_539insA c.(538-540)aaafs p.K180fs PSMA6_ENST00000556506.1_Frame_Shift_Ins_p.K180fs|PSMA6_ENST00000553809.1_Frame_Shift_Ins_p.K186fs|PSMA6_ENST00000540871.1_Frame_Shift_Ins_p.K161fs|PSMA6_ENST00000555764.1_Frame_Shift_Ins_p.K101fs|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 180 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) CAGCTTCCTTGAAAAAAAAGTG 0.406 7 760 --- --- --- --- GPR65 0 broad.mit.edu 37 14 88477554 88477555 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:88477554_88477555insT ENST00000267549.3 + 2 921_922 c.363_364insT c.(361-366)aattttfs p.NF121fs RP11-300J18.2_ENST00000554433.1_RNA NM_003608.3 NP_003599.2 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 121 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 ACCCTTTGAAGTTTTTTTTCCT 0.426 7 1076 --- --- --- --- MOK 5891 broad.mit.edu 37 14 102718302 102718303 + Frame_Shift_Ins INS - - T rs145834415 byFrequency TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:102718302_102718303insT ENST00000361847.2 - 5 544_545 c.313_314insA c.(313-315)tatfs p.Y105fs MOK_ENST00000524214.1_Frame_Shift_Ins_p.Y75fs|MOK_ENST00000522874.1_Frame_Shift_Ins_p.Y105fs|MOK_ENST00000193029.6_5'UTR NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 105 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ATAGTGCATAATTTTTTTTTCT 0.322 7 256 --- --- --- --- IGHV4-39 0 broad.mit.edu 37 14 106877821 106877826 + RNA DEL CTACTG CTACTG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:106877821_106877826delCTACTG ENST00000390619.2 - 0 217_222 GTAGTAACTACTACTGCTGATGGAGC 0.607 7 412 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 7 860 --- --- --- --- GOLGA8DP 0 broad.mit.edu 37 15 22709277 22709278 + RNA INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:22709277_22709278insA ENST00000314246.8 - 0 1157 CTCTGGATTCCAaaaaaaaaag 0.515 13 158 --- --- --- --- WHAMMP3 0 broad.mit.edu 37 15 23205231 23205231 + RNA DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:23205231delG ENST00000400153.2 - 0 656 NR_003521.1 GCTCAAGTCAGGACAGTGTAA 0.333 9 37 --- --- --- --- SRP14 6727 broad.mit.edu 37 15 40328597 40328599 + In_Frame_Del DEL TGC TGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:40328597_40328599delTGC ENST00000267884.6 - 5 417_419 c.346_348delGCA c.(346-348)del p.A116del SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR NM_003134.4 NP_003125.3 P37108 SRP14_HUMAN signal recognition particle 14kDa (homologous Alu RNA binding protein) 116 Ala/Thr-rich. negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding endometrium(1)|skin(1)|upper_aerodigestive_tract(1) 3 all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505) ctgcggcaggtgctgctgctgct 0.478 7 367 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:42742957delA ENST00000263805.4 - 2 1770 c.1444delT c.(1444-1446)ccfs p.S482fs ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAGGGGAAAAAAAATTT 0.393 9 1015 --- --- --- --- SPATA5L1 79029 broad.mit.edu 37 15 45710840 45710841 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:45710840_45710841insT ENST00000305560.6 + 7 2153_2154 c.2054_2055insT c.(2053-2055)tttfs p.F685fs SPATA5L1_ENST00000533841.1_3'UTR NM_024063.2 NP_076968.2 Q9BVQ7 SPA5L_HUMAN spermatogenesis associated 5-like 1 685 cytoplasm ATP binding|nucleoside-triphosphatase activity kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07) GCAGAAACCTGTTTTTTTTCTG 0.361 11 408 --- --- --- --- NARG2 79664 broad.mit.edu 37 15 60745782 60745782 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr15:60745782delA ENST00000561114.1 - 9 1307 c.1145delT c.(1144-1146)tcfs p.F382fs NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron NM_001276385.1 NP_001263314.1 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 0 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 CCCTTAGGGGAAAAAAAAAGC 0.338 11 196 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 5313074 5313076 + RNA DEL GGT GGT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:5313074_5313076delGGT ENST00000569895.1 + 0 304 GCAGggtgacggtggtggtggtg 0.483 10 325 --- --- --- --- NTAN1 123803 broad.mit.edu 37 16 15131931 15131931 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:15131931delT ENST00000287706.3 - 10 982 c.890delA c.(889-891)atfs p.N297fs PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 297 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 GCCATCTTCATTTTTTTTGTA 0.383 10 664 --- --- --- --- NPIPA5 100288332 broad.mit.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:15457565_15457566delAC ENST00000360151.4 - 8 1002_1003 c.1003_1004delGT c.(1003-1005)cfs p.V335fs NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GAGTGAGCAGACACACTCGGGA 0.446 8 334 --- --- --- --- ARHGAP17 55114 broad.mit.edu 37 16 24942180 24942180 + Frame_Shift_Del DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:24942180delG ENST00000289968.6 - 19 2509 c.2440delC c.(2440-2442)aafs p.Q814fs ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 814 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) CCAGGAGGTTGGGGGGGTGGG 0.577 9 1149 --- --- --- --- EIF3C 8663 broad.mit.edu 37 16 28734579 28734581 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:28734579_28734581delGAG ENST00000331666.6 + 9 1057_1059 c.871_873delGAG c.(871-873)del p.E294del EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 294 Poly-Glu. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity lung(5)|skin(1) 6 GCGCCTGGATGAGGAGGAGGAGG 0.562 16 3900 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365550 30365552 + In_Frame_Del DEL CAT CAT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:30365550_30365552delCAT ENST00000305596.3 - 3 345_347 c.170_172delATG c.(169-174)ggg>g p.DG57del CD2BP2_ENST00000569466.1_In_Frame_Del_p.DG57del NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 57 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CTGGACCCCCCATCATCATCATC 0.532 12 1593 --- --- --- --- SETD1A 9739 broad.mit.edu 37 16 30982809 30982811 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:30982809_30982811delTCC ENST00000262519.8 + 13 3813_3815 c.3127_3129delTCC c.(3127-3129)del p.S1058del NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1058 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CAGctcctcatcctcctcctcct 0.547 7 467 --- --- --- --- CNGB1 1258 broad.mit.edu 37 16 57983275 57983277 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:57983275_57983277delTCC ENST00000564448.1 - 14 1143_1145 c.1083_1085delGGA c.(1081-1086)gaa>ga p.EE363del CNGB1_ENST00000251102.8_In_Frame_Del_p.EE369del Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 369 Poly-Glu. sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 ctcctcctcttcctcctcctcct 0.586 7 352 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 7 403 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72822441 72822441 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:72822441delT ENST00000268489.5 - 10 10406 c.9734delA c.(9733-9735)agfs p.K3245fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.K2331fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3245 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) TTTGTGTGCCTTTTCCTTCTC 0.617 7 1397 --- --- --- --- GSE1 23199 broad.mit.edu 37 16 85682289 85682290 + Frame_Shift_Ins INS - - C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:85682289_85682290insC ENST00000253458.7 + 3 534_535 c.358_359insC c.(358-360)cccfs p.P120fs GSE1_ENST00000405402.2_Frame_Shift_Ins_p.P16fs|GSE1_ENST00000393243.1_Frame_Shift_Ins_p.P47fs NM_014615.2 NP_055430.1 Gse1 coiled-coil protein p.V123fs*2(1) CGTGCCCAGCACCCCCCCCGTG 0.688 8 460 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr16:89349640_89349641insT ENST00000301030.4 - 9 3769_3770 c.3309_3310insA c.(3307-3312)aaatgafs p.*1104fs ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1104 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTCTTGTCATCTTTTTTTTCAG 0.465 7 936 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Frame_Shift_Del DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:7574003delG ENST00000269305.4 - 10 1213 c.1024delC c.(1024-1026)gafs p.R342fs TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.R342fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCAGCTCTCGGAACATCTCG 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 58 54 --- --- --- --- CCDC43 124808 broad.mit.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:42756253delT ENST00000315286.8 - 5 654 c.646delA c.(646-648)ggfs p.R216fs C17orf104_ENST00000588805.1_Intron|CCDC43_ENST00000588210.1_Frame_Shift_Del_p.R219fs|CCDC43_ENST00000457422.2_3'UTR NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 216 lung(2) 2 Prostate(33;0.0322) CTCTGTGTCCTTTTTTTTTCC 0.463 10 179 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 16 183 --- --- --- --- SPAG9 9043 broad.mit.edu 37 17 49077041 49077041 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:49077041delT ENST00000262013.7 - 14 1853 c.1645delA c.(1645-1647)ggfs p.R549fs SPAG9_ENST00000510283.1_Frame_Shift_Del_p.R392fs|SPAG9_ENST00000357122.4_Frame_Shift_Del_p.R535fs|SPAG9_ENST00000505279.1_Frame_Shift_Del_p.R535fs NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 549 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R535fs*28(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) ATGCTTGACCTTTTTTTTTCC 0.323 8 243 --- --- --- --- COIL 8161 broad.mit.edu 37 17 55028117 55028118 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:55028117_55028118insT ENST00000240316.4 - 2 519_520 c.485_486insA c.(484-486)aaafs p.K162fs NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 162 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TTTTTCTCTTGTTTTTTTTGCT 0.366 21 910 --- --- --- --- BZRAP1 9256 broad.mit.edu 37 17 56386383 56386384 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:56386383_56386384insT ENST00000355701.3 - 22 5119_5120 c.4249_4250insA c.(4249-4251)ccgfs p.P1417fs BZRAP1_ENST00000343736.4_Frame_Shift_Ins_p.P1417fs|BZRAP1_ENST00000268893.6_Frame_Shift_Ins_p.P1357fs NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653 187 751 --- --- --- --- RP11-178C3.2 0 broad.mit.edu 37 17 58050857 58050857 + RNA DEL G G - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:58050857delG ENST00000586209.1 + 0 158 TTTTTTTTTTGGCAGTTTTTA 0.423 7 91 --- --- --- --- TEX2 55852 broad.mit.edu 37 17 62291438 62291440 + In_Frame_Del DEL TCC TCC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:62291438_62291440delTCC ENST00000258991.3 - 2 222_224 c.138_140delGGA c.(136-141)gaa>ga p.EE50del TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del|TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del Q8IWB9 TEX2_HUMAN testis expressed 2 50 Poly-Glu. signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) ctcctcctcttcctcctcctcct 0.552 14 514 --- --- --- --- LRRC37A16P 0 broad.mit.edu 37 17 66141015 66141016 + RNA INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr17:66141015_66141016insA ENST00000590019.1 - 0 70 CCAAGATTTCTACAAAAAAAAA 0.322 16 213 --- --- --- --- RBBP8 5932 broad.mit.edu 37 18 20572852 20572853 + Frame_Shift_Ins INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr18:20572852_20572853insA ENST00000399722.2 + 11 1413_1414 c.1062_1063insA c.(1060-1065)ggaaaafs p.GK354fs RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 354 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity p.K357fs*3(2)|p.K355E(2)|p.G354G(2) central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TACAGCCTGGGAAAAAAAAACA 0.361 Homologous recombination 28 1046 --- --- --- --- HAUS8 93323 broad.mit.edu 37 19 17160706 17160707 + Frame_Shift_Del DEL GA GA - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:17160706_17160707delGA ENST00000593360.1 - 10 3044_3045 c.1026_1027delTC c.(1024-1029)tcgtfs p.SR342fs HAUS8_ENST00000253669.5_Frame_Shift_Del_p.SR403fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.SR402fs Q9BT25 HAUS8_HUMAN HAUS augmin-like complex, subunit 8 403 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle pole endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 12 CTCCCTGAACGAGAGAGAGAGG 0.495 8 982 --- --- --- --- PSG7 5676 broad.mit.edu 37 19 43440068 43440069 + RNA DEL AC AC - rs72310923 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:43440068_43440069delAC ENST00000406070.2 - 0 161 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) acacacacaaacacacacacac 0.495 7 157 --- --- --- --- PVRL2 5819 broad.mit.edu 37 19 45381749 45381751 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:45381749_45381751delGAG ENST00000252485.4 + 6 1663_1665 c.1312_1314delGAG c.(1312-1314)del p.E445del PVRL2_ENST00000252483.5_Intron NM_002856.2 NP_002847.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 504 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGGCAaggatgaggaggaggagg 0.591 7 158 --- --- --- --- SIGLEC16 400709 broad.mit.edu 37 19 50474857 50474861 + RNA DEL GACGC GACGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:50474857_50474861delGACGC ENST00000602139.1 + 0 998 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CAGTCTCCAGGACGCTTCCCTTTGC 0.566 8 321 --- --- --- --- SIGLEC7 27036 broad.mit.edu 37 19 51645628 51645630 + Translation_Start_Site DEL TGC TGC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:51645628_51645630delTGC ENST00000317643.6 + 0 71_73 SIGLEC7_ENST00000600577.1_Start_Codon_Del|SIGLEC7_ENST00000305628.7_Start_Codon_Del NM_014385.2 NP_055200.1 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ACCCCAGATAtgctgctgctgct 0.596 11 177 --- --- --- --- LILRB2 0 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 18 731 --- --- --- --- LILRB1 0 broad.mit.edu 37 19 55146148 55146150 + In_Frame_Del DEL CTC CTC - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr19:55146148_55146150delCTC ENST00000396331.1 + 11 1774_1776 c.1417_1419delCTC c.(1417-1419)del p.L479del LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 479 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CAtcctactgctcctcctcctcc 0.581 HNSCC(37;0.09) 8 460 --- --- --- --- ESF1 51575 broad.mit.edu 37 20 13740448 13740450 + In_Frame_Del DEL CTT CTT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:13740448_13740450delCTT ENST00000202816.1 - 9 1824_1826 c.1717_1719delAAG c.(1717-1719)del p.K573del NM_001276380.1|NM_016649.3 NP_001263309.1|NP_057733.2 Q9H501 ESF1_HUMAN ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) 573 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 CTTCATCATCCTTCTGACTTTTC 0.305 56 75 --- --- --- --- GINS1 9837 broad.mit.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:25422397delA ENST00000262460.4 + 6 601 c.507delA c.(505-507)ttfs p.L169fs GINS1_ENST00000429262.2_3'UTR NM_021067.3 NP_066545.3 Q14691 PSF1_HUMAN GINS complex subunit 1 (Psf1 homolog) 169 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm p.N172fs*14(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 7 CAGTCCTATTAAAAAAAAATA 0.299 9 374 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr20:30898763_30898765delGAG ENST00000375712.3 + 2 1350_1352 c.1183_1185delGAG c.(1183-1185)del p.E399del KIF3B_ENST00000418717.2_Intron NM_004798.3 NP_004789.1 O15066 KIF3B_HUMAN kinesin family member 3B 399 Poly-Glu. 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) GGGTGGggaagaggaggaggagg 0.571 7 198 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 7 26 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 8 303 --- --- --- --- IFNGR2 3460 broad.mit.edu 37 21 34799292 34799292 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr21:34799292delT ENST00000290219.6 + 4 1162 c.514delT c.(514-516)ttfs p.F173fs IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs NM_005534.3 NP_005525.2 P38484 INGR2_HUMAN interferon gamma receptor 2 (interferon gamma transducer 1) 173 Fibronectin type-III 2. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 13 Interferon gamma-1b(DB00033) CTCCACGGCCTTTTTTTGTTA 0.458 7 1284 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661172 22661173 + RNA INS - - C rs7410785 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:22661172_22661173insC ENST00000426066.1 + 0 264_265 NR_027293.1 CATACAGGTTTTCCCCCCCCAC 0.411 7 223 --- --- --- --- LL22NC03-80A10.6 0 broad.mit.edu 37 22 22664078 22664079 + RNA DEL TT TT - rs114253646 by1000genomes TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:22664078_22664079delTT ENST00000426066.1 + 0 623 NR_027293.1 TGTGTGTGTGTTTTTATCTTGC 0.381 10 410 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 11 451 --- --- --- --- SMDT1 91689 broad.mit.edu 37 22 42478046 42478048 + In_Frame_Del DEL GAT GAT - rs141840500 TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:42478046_42478048delGAT ENST00000331479.3 + 2 378_380 c.304_306delGAT c.(304-306)del p.D107del SMDT1_ENST00000547929.1_Intron NM_033318.4 NP_201575.3 single-pass membrane protein with aspartate-rich tail 1 TGTTCCAGAGGATGATGATGATG 0.478 9 477 --- --- --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chr22:43213780delT ENST00000263245.5 - 10 1115 c.896delA c.(895-897)atfs p.N299fs ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.N255fs NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGAGTCAACATTTTTTTTGCC 0.363 7 827 --- --- --- --- ATXN3L 92552 broad.mit.edu 37 X 13337469 13337469 + Frame_Shift_Del DEL T T - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:13337469delT ENST00000380622.2 - 1 1049 c.585delA c.(583-585)aafs p.K195fs GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 195 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GTTTTACTAATTTTTTTCCAT 0.383 8 899 --- --- --- --- OFD1 8481 broad.mit.edu 37 X 13764946 13764946 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:13764946delA ENST00000380567.1 + 9 1154 c.282delA c.(280-282)gcfs p.A94fs OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs O75665 OFD1_HUMAN oral-facial-digital syndrome 1 234 LisH. cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle centriole|cilium|cytosol|microtubule basal body|nuclear membrane alpha-tubulin binding|gamma-tubulin binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 25 AAATGGAAGCAAAAAAAAAGT 0.299 18 362 --- --- --- --- CNKSR2 22866 broad.mit.edu 37 X 21627678 21627680 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:21627678_21627680delGAG ENST00000425654.2 + 19 3025_3027 c.2545_2547delGAG c.(2545-2547)del p.E856del CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 886 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ggtggaggaagaggaggaggagg 0.517 9 241 --- --- --- --- TFE3 7030 broad.mit.edu 37 X 48887952 48887952 + Frame_Shift_Del DEL C C - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:48887952delC ENST00000315869.7 - 10 1704 c.1445delG c.(1444-1446)gafs p.G482fs TFE3_ENST00000493583.1_5'UTR NM_006521.4 NP_006512.2 P19532 TFE3_HUMAN transcription factor binding to IGHM enhancer 3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CTGGGCAGGTCCCCCCCCTAC 0.647 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 7 617 --- --- --- --- TAF1 6872 broad.mit.edu 37 X 70603000 70603000 + Frame_Shift_Del DEL A A - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:70603000delA ENST00000449580.1 + 12 1981 c.1930delA c.(1930-1932)aafs p.K646fs TAF1_ENST00000373790.4_Frame_Shift_Del_p.K646fs|TAF1_ENST00000423759.1_Frame_Shift_Del_p.K667fs|TAF1_ENST00000276072.3_Frame_Shift_Del_p.K667fs P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 646 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AAAGCACATCAAAAAAAAGGC 0.408 10 295 --- --- --- --- CUL4B 8450 broad.mit.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:119694117_119694119delGAG ENST00000371322.5 - 1 436_438 c.375_377delCTC c.(373-378)tca>tc p.SS127del CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 145 Ser-rich. cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TGGTGAAGATgaggaggaggagg 0.488 12 409 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 30 901 --- --- --- --- F8 2157 broad.mit.edu 37 X 154158427 154158428 + Frame_Shift_Ins INS - - T TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrX:154158427_154158428insT ENST00000360256.4 - 14 3837_3838 c.3637_3638insA c.(3637-3639)tcafs p.S1213fs NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1213 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCTTCCTGAATTTTTTTTTCT 0.327 7 269 --- --- --- --- RNA5-8SP6 0 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-HV-A5A6-01A-11D-A26I-08 TCGA-HV-A5A6-10A-01D-A26I-08 Untested Somatic Phase_I WXS none Illumina GAIIx cef48024-e351-4de9-a83b-f3c10fe9e0f7 bc5bef8e-3ef9-4f30-9ed9-5b861c924522 g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 9 59 --- --- --- ---