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 LINC00957 0 broad.mit.edu 37 7 44080367 44080367 + RNA SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:44080367A>G ENST00000441052.1 + 0 1052 GCAGCCCGGAACACCTGCGTG 0.721000 4 44 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41742053 41742053 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:41742053C>T ENST00000352645.4 + 14 1763 c.1506C>T c.(1504-1506)ttC>ttT p.F502F ZC3H7B_ENST00000351589.4_Silent_p.F502F NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 518 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACTGCACCTTCGCCTACCATC 0.607000 32 988 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625961 29625961 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:29625961C>A ENST00000278882.3 + 5 585 c.205C>A c.(205-207)Caa>Aaa p.Q69K FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K p.Q69K(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ACCAAGAGAACAATGGGAACC 0.333000 7 516 1.05317e-09 1.11482e-09 1 1 0 SUSD4 55061 broad.mit.edu 37 1 223465880 223465880 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:223465880C>T ENST00000343846.3 - 2 895 c.262G>A c.(262-264)Gga>Aga p.G88R SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R Q5VX71 SUSD4_HUMAN sushi domain containing 4 88 Sushi 1. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) AGCTTGAATCCGTCTTGGCAG 0.512000 135 427 0 0 1 0 0 PAQR4 124222 broad.mit.edu 37 16 3021758 3021758 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3021758G>A ENST00000318782.8 + 3 1061 c.631G>A c.(631-633)Gca>Aca p.A211T PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000572687.1_Missense_Mutation_p.A137T NM_152341.3 NP_689554.2 Q8N4S7 PAQR4_HUMAN progestin and adipoQ receptor family member IV 211 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 GCGCATGGACGCACTGGCGCT 0.657000 5 368 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 6 109 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70003865 70003865 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:70003865C>T ENST00000361484.3 - 1 1077 c.754G>A c.(754-756)Gcc>Acc p.A252T NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 252 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) TAGCGCCTGGCTTTTCTAGGG 0.582000 95 295 0 0 1 0 0 UGT1A9 0 broad.mit.edu 37 2 234580748 234580748 + Silent SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:234580748T>C ENST00000354728.4 + 1 250 c.168T>C c.(166-168)gtT>gtC p.V56V UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron NM_021027.2 NP_066307.1 p.V56V(1) breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 37 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) ATGAGGTGGTTGTAGTCATGC 0.532000 6 375 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74988701 74988701 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:74988701G>A ENST00000261978.4 - 17 3087 c.2701C>T c.(2701-2703)Cgc>Tgc p.R901C LTBP2_ENST00000556690.1_Missense_Mutation_p.R901C NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 901 Cys-rich.|EGF-like 5; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TTGATGCAGCGCCCTTTTCCC 0.622000 14 134 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120006 38120006 + Silent SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:38120006T>C ENST00000406386.3 + 7 1698 c.1443T>C c.(1441-1443)tgT>tgC p.C481C RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 481 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding p.C481C(3) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) GAACATCCTGTGCCCAGCGGG 0.592000 10 955 0 0 1 0 0 FAM211B 388886 broad.mit.edu 37 22 24982154 24982154 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:24982154G>A ENST00000318753.8 - 4 671 c.648C>T c.(646-648)aaC>aaT p.N216N GGT1_ENST00000248923.4_Intron NM_207644.2 NP_997527.2 Q2VPJ9 LRC6X_HUMAN family with sequence similarity 211, member B 216 GTCGGTTGCCGTTGAGCAGGA 0.652000 8 547 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853388 70853388 + Splice_Site SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:70853388G>T ENST00000333538.5 + 3 1223 c.e3+1 WBSCR17_ENST00000498380.2_Splice_Site NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AGCGACGAAGGTACAGGGGTG 0.582000 5 213 1.024e-07 1.07347e-07 1 1 0 CHD7 55636 broad.mit.edu 37 8 61654852 61654852 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:61654852G>A ENST00000423902.2 + 2 1340 c.861G>A c.(859-861)ccG>ccA p.P287P CHD7_ENST00000525508.1_Silent_p.P287P|CHD7_ENST00000524602.1_Silent_p.P287P NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 287 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.P287P(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTGTTAGGCCGCAAACCCTTA 0.512000 6 619 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 6 581 0 0 1 0 0 DRD5 0 broad.mit.edu 37 4 9784028 9784028 + Silent SNP T T C rs2227841 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:9784028T>C ENST00000304374.2 + 1 771 c.375T>C c.(373-375)acT>acC p.T125T NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 125 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TGTGCTCCACTGCCTCCATCC 0.622000 6 183 0 0 1 0 0 IGHG2 0 broad.mit.edu 37 14 106110177 106110177 + RNA SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:106110177G>C ENST00000390545.2 - 0 440 CGGGGTCTTCGTGGCTCACGT 0.602000 5 674 0 0 1 0 0 RFTN1 23180 broad.mit.edu 37 3 16475456 16475456 + Silent SNP C C T rs144679139 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:16475456C>T ENST00000334133.4 - 3 506 c.234G>A c.(232-234)tcG>tcA p.S78S RFTN1_ENST00000432519.1_Silent_p.S42S NM_015150.1 NP_055965.1 Q14699 RFTN1_HUMAN raftlin, lipid raft linker 1 78 plasma membrane central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 38 GGGCCGCCAGCGAGAAGCCCT 0.647000 13 501 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 4 253 0 0 1 0 0 GOLGA8DP 0 broad.mit.edu 37 15 22709637 22709637 + RNA SNP T T G rs140467724 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:22709637T>G ENST00000314246.8 - 0 1147 CCCATCTGGTTTTTGAGTTTG 0.547000 9 1224 0 0 1 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025366 207025366 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:207025366G>A ENST00000392222.2 + 2 510 c.135G>A c.(133-135)ccG>ccA p.P45P EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 45 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.P45P(5) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 CCAGCCCACCGCCTGCCGACT 0.448000 5 373 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470800 92470800 + Missense_Mutation SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:92470800C>G ENST00000267622.4 - 11 3893 c.3520G>C c.(3520-3522)Gat>Cat p.D1174H NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1174 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CTTAGTGCATCTATTTCGATG 0.348000 T PDGFRB AML 9 235 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 4 277 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 9 368 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522772 95522772 + RNA SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:95522772T>C ENST00000432432.2 - 0 255 NR_040113.1 p.E49G(1) GCGCTCCACCTCCGCGGCGTC 0.682000 8 310 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430948 37430948 + Missense_Mutation SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:37430948C>G ENST00000374660.1 + 7 1054 c.955C>G c.(955-957)Cca>Gca p.P319A ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ATTTACGTGGCCAGCAAAAGG 0.423000 5 414 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877207 24877207 + Missense_Mutation SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:24877207G>T ENST00000382554.3 + 3 649 c.331G>T c.(331-333)Gtg>Ttg p.V111L NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 111 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 TGCCTACCTGGTGCCTGGCCC 0.642000 138 342 8.27649e-76 8.89108e-76 1 1 0 PCK1 5105 broad.mit.edu 37 20 56138146 56138146 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:56138146C>T ENST00000319441.4 + 5 837 c.673C>T c.(673-675)Cgc>Tgc p.R225C PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 225 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCTGCCTGACCGCAGAGAGAT 0.622000 6 450 0 0 1 0 0 NUP210P1 0 broad.mit.edu 37 3 126386104 126386104 + RNA SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:126386104C>A ENST00000357061.3 + 0 556 NR_034158.1 AGAACCCTTTCTCCTTTGGCA 0.582000 6 172 1 1 1 1 0 MST1L 0 broad.mit.edu 37 1 17085364 17085364 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:17085364G>A ENST00000455405.2 - 0 3 CAGGGCCCATGGCTATCCCCA 0.597000 5 235 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158592861 158592861 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:158592861G>A ENST00000368148.3 - 43 6212 c.6032C>T c.(6031-6033)gCc>gTc p.A2011V SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2011 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.A2011V(6) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CAGCAGAGCGGCATAACGCTC 0.483000 7 1139 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581109 40581109 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:40581109T>C ENST00000450241.2 - 6 1449 c.1138A>G c.(1138-1140)Ata>Gta p.I380V ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V O75290 Z780A_HUMAN zinc finger protein 780A 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I415V(1)|p.I380V(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATGGTTTTATACCAGCATGA 0.383000 6 966 0 0 1 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592193 1592193 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:1592193C>T ENST00000279477.7 - 2 307 c.243G>A c.(241-243)caG>caA p.Q81Q RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000568365.1_Silent_p.Q81Q|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381605.4_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 81 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGCCTTCTTTCTGATTGTAGA 0.522000 17 182 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031337 43031337 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:43031337C>T ENST00000161559.6 - 2 414 c.280G>A c.(280-282)Gca>Aca p.A94T CEACAM1_ENST00000358394.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000599389.1_Missense_Mutation_p.A94T|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000403444.3_Missense_Mutation_p.A94T|CEACAM1_ENST00000352591.5_Missense_Mutation_p.A94T|CEACAM1_ENST00000403461.1_Missense_Mutation_p.A94T|CEACAM1_ENST00000308072.4_Missense_Mutation_p.A54T|LIPE-AS1_ENST00000594624.2_RNA NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 94 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) CCGCTGTTTGCGGGCCCTGGG 0.488000 9 1068 0 0 1 0 0 VGLL4 9686 broad.mit.edu 37 3 11643423 11643423 + Silent SNP G G A rs151086238 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:11643423G>A ENST00000273038.3 - 3 503 c.138C>T c.(136-138)acC>acT p.T46T VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000430365.2_Silent_p.T52T|VGLL4_ENST00000404339.1_Silent_p.T51T NM_014667.2 NP_055482.2 Q14135 VGLL4_HUMAN vestigial like 4 (Drosophila) 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111) GGGGAGGGCCGGTGCGGTGAC 0.592000 6 466 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18183254 18183254 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:18183254G>A ENST00000380033.4 - 14 2407 c.2275C>T c.(2275-2277)Cgt>Tgt p.R759C NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 759 BEN 2. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTAAGGCTACGGATACCGCTG 0.517000 215 729 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57768280 57768280 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:57768280G>C ENST00000371030.2 + 1 2206 c.2206G>C c.(2206-2208)Ggc>Cgc p.G736R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 736 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGCACTGGGTGGCAGAGACAG 0.627000 3 51 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697844 113697844 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:113697844C>T ENST00000297405.5 - 15 2517 c.2273G>A c.(2272-2274)cGg>cAg p.R758Q CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 758 CUB 4. integral to membrane|plasma membrane p.R758Q(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AAGATGTATCCGGCTCCCTGG 0.413000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 77 355 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65489559 65489559 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:65489559C>T ENST00000261883.4 - 9 3231 c.3065G>A c.(3064-3066)cGc>cAc p.R1022H NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 1022 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.R1022H(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CACCAGGGTGCGGTCCACACG 0.592000 5 319 0 0 1 0 0 IRF2 3660 broad.mit.edu 37 4 185310135 185310135 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:185310135C>T ENST00000393593.3 - 9 1034 c.827G>A c.(826-828)gGc>gAc p.G276D NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 276 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G276D(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) GGACGCCATGCCGGGCAGCAG 0.552000 7 786 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55515068 55515068 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:55515068C>T ENST00000500968.3 - 2 387 c.305G>A c.(304-306)cGc>cAc p.R102H USP51_ENST00000586165.1_Intron NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 102 Pro-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 gcggggCTTGCGGCGCGGGCA 0.761000 4 76 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522786 95522786 + RNA SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:95522786T>C ENST00000432432.2 - 0 241 NR_040113.1 p.K44K(1) CGGCGTCGCCTTTGACAGCTG 0.687000 13 331 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:90162513T>C ENST00000564451.1 + 0 1866 TUBB8P7_ENST00000567960.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 7 456 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486356 37486356 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:37486356G>C ENST00000374660.1 + 35 2952 c.2853G>C c.(2851-2853)aaG>aaC p.K951N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1000 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAATGCAAAAGTCTGTTCCAA 0.308000 4 339 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923991 34923991 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr21:34923991C>T ENST00000356577.4 + 3 2929 c.2454C>T c.(2452-2454)acC>acT p.T818T SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Silent_p.T818T|SON_ENST00000290239.6_Silent_p.T818T|SON_ENST00000381679.4_Silent_p.T818T NM_138927.1 NP_620305.1 P18583 SON_HUMAN SON DNA binding protein 818 17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM. anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TGTTAGCAACCAGCTCCATGG 0.507000 8 999 0 0 1 0 0 GLUD1P2 0 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 17 146 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9324694 9324694 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:9324694C>T ENST00000308682.2 - 1 848 c.820G>A c.(820-822)Gcc>Acc p.A274T NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 ATCACTGAGGCGGTGGAGCTG 0.552000 6 321 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70991279 70991279 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:70991279G>A ENST00000256389.3 - 2 590 c.346C>T c.(346-348)Cgg>Tgg p.R116W RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 66 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) CCCCCAAACCGCAGGCTATAG 0.527000 5 353 0 0 1 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254013 39254013 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:39254013G>C ENST00000333822.4 - 1 380 c.324C>G c.(322-324)agC>agG p.S108R NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 108 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.S108R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 gcttgcagcagctggacacac 0.662000 5 213 0 0 1 0 0 DPP3 10072 broad.mit.edu 37 11 66260292 66260292 + Missense_Mutation SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:66260292A>T ENST00000532677.1 + 10 1552 c.1151A>T c.(1150-1152)aAg>aTg p.K384M DPP3_ENST00000530165.1_Missense_Mutation_p.K335M|DPP3_ENST00000360510.2_Missense_Mutation_p.K365M|DPP3_ENST00000531863.1_Missense_Mutation_p.K385M|DPP3_ENST00000453114.1_Missense_Mutation_p.K365M|DPP3_ENST00000541961.1_Missense_Mutation_p.K365M|DPP3_ENST00000533799.1_3'UTR NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 365 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 ACCTTTGAGAAGGACAAGTTC 0.597000 6 566 0 0 1 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65822970 65822970 + Translation_Start_Site SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:65822970A>T ENST00000562901.1 + 0 215 PTPLAD1_ENST00000261875.5_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000568793.1_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000442729.2_Start_Codon_SNP_p.M1L|PTPLAD1_ENST00000565299.1_Start_Codon_SNP_p.M1L Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CAGTGTGGCCATGGAGAATCA 0.637000 14 19 0 0 1 0 0 MRPL34 64981 broad.mit.edu 37 19 17417119 17417119 + Nonstop_Mutation SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:17417119G>T ENST00000602206.1 + 2 131 c.110G>T c.(109-111)tGa>tTa p.*37L MRPL34_ENST00000594999.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L Q9BQ48 RM34_HUMAN mitochondrial ribosomal protein L34 0 translation structural constituent of ribosome endometrium(1)|lung(1) 2 TCCGGCGCCTGAGCACGCCGG 0.672000 18 63 1.9806e-07 2.05641e-07 1 1 0 SCML1 6322 broad.mit.edu 37 X 17770059 17770059 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:17770059C>T ENST00000380043.3 + 6 1075 c.747C>T c.(745-747)tgC>tgT p.C249C SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 276 anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) TTGCATTATGCCCTCTTGTCG 0.448000 7 1379 0 0 1 0 0 HIF3A 64344 broad.mit.edu 37 19 46825050 46825050 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:46825050A>G ENST00000339613.2 + 10 1249 c.994A>G c.(994-996)Atc>Gtc p.I332V HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000377670.4_Missense_Mutation_p.I388V|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TGGCCCCCGGATCCTTGCCTT 0.682000 211 560 0 0 1 0 0 PMFBP1 83449 broad.mit.edu 37 16 72170640 72170640 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:72170640G>A ENST00000537465.1 - 8 1155 c.997C>T c.(997-999)Cgc>Tgc p.R333C PMFBP1_ENST00000237353.10_Missense_Mutation_p.R333C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R188C Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 333 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AGTTCCACGCGCAGATCCTTC 0.552000 4 202 0 0 1 0 0 HERC2P3 0 broad.mit.edu 37 15 20644850 20644850 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:20644850G>A ENST00000428453.1 - 0 3097 p.A803V(4) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CATGTCCCTCGCCCTTTCGGT 0.463000 5 195 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3299648 3299648 + Missense_Mutation SNP C C T rs104895198 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3299648C>T ENST00000219596.1 - 3 1082 c.1043G>A c.(1042-1044)cGc>cAc p.R348H MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000339854.4_Missense_Mutation_p.R168H NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 348 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding p.R348H(1) 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) GCCAGGTGAGCGGCTGCCTGA 0.657000 40 138 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54872775 54872775 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:54872775C>T ENST00000391743.3 - 2 338 c.58G>A c.(58-60)Gtg>Atg p.V20M LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 38 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) AGGGGGATCACGGTGCCTGGC 0.582000 11 636 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74969572 74969572 + Missense_Mutation SNP G G A rs142182623 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:74969572G>A ENST00000261978.4 - 34 5340 c.4954C>T c.(4954-4956)Cgg>Tgg p.R1652W LTBP2_ENST00000556690.1_Missense_Mutation_p.R1608W NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 1652 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TAGCCTGGCCGGAAGTGGACC 0.632000 5 461 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661272 22661272 + RNA SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:22661272C>T ENST00000426066.1 + 0 360 NR_027293.1 CTGGGATGTACGTCTGCGTTG 0.488000 5 224 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111746 57111746 + Missense_Mutation SNP A A G rs2958150 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:57111746A>G ENST00000454682.1 - 3 3849 c.3568T>C c.(3568-3570)Tcc>Ccc p.S1190P NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTTTGGGGGATGGGGTAGCT 0.632000 T BCL6 NHL 8 687 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150715311 150715311 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:150715311G>A ENST00000344419.3 + 4 747 c.607G>A c.(607-609)Gca>Aca p.A203T IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 203 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) TGGTTTCGCCGCAAATGGCAA 0.433000 5 299 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 9 195 0 0 1 0 0 CCDC15 80071 broad.mit.edu 37 11 124857562 124857562 + Silent SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:124857562A>G ENST00000529051.1 + 8 1699 c.1440A>G c.(1438-1440)ttA>ttG p.L480L CCDC15_ENST00000344762.5_Silent_p.L480L Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 480 centrosome central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1) 23 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AGAATTTTTTATCTAGAGACC 0.408000 6 592 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3824628 3824628 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:3824628C>A ENST00000262367.5 - 12 3034 c.2225G>T c.(2224-2226)cGt>cTt p.R742L CREBBP_ENST00000382070.3_Missense_Mutation_p.R704L NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 742 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GGAGGCTGCACGAGGTCCCAT 0.522000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 350 1 1 1 1 0 NR2F1 7025 broad.mit.edu 37 5 92921011 92921011 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:92921011C>T ENST00000327111.3 + 1 1969 c.282C>T c.(280-282)agC>agT p.S94S NR2F1-AS1_ENST00000513055.1_RNA NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 94 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) ACAAGTCGAGCGGCAAGCACT 0.642000 4 51 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661478 22661478 + RNA SNP T T G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:22661478T>G ENST00000426066.1 + 0 368 NR_027293.1 CAGATGCGTCTGAAGAAACAT 0.488000 8 263 0 0 1 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182850872 182850872 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:182850872C>T ENST00000409137.3 + 1 278 c.35C>T c.(34-36)gCc>gTc p.A12V PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000280295.3_Missense_Mutation_p.A12V|PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V NM_001261424.1|NM_001261425.1 NP_001248353.1|NP_001248354.1 Q8WVI7 PPR1C_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1C 12 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) ATACAGTTTGCCGTGCCTGTA 0.448000 6 466 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16551706 16551706 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:16551706G>A ENST00000597937.1 - 4 184 c.180C>T c.(178-180)gcC>gcT p.A60A EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 60 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CTTCTGGATCGGCCAAGTCCC 0.522000 7 1323 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318330 3318330 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:3318330G>A ENST00000336727.3 + 2 1337 c.433G>A c.(433-435)Gga>Aga p.G145R RGS12_ENST00000382788.3_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000543385.1_Missense_Mutation_p.G145R NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 145 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCAGTCTGGTGGAATTTTCAA 0.468000 104 284 0 0 1 0 0 IL22RA1 58985 broad.mit.edu 37 1 24447351 24447351 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:24447351T>C ENST00000270800.1 - 7 1707 c.1669A>G c.(1669-1671)Aca>Gca p.T557A NM_021258.3 NP_067081.2 Q8N6P7 I22R1_HUMAN interleukin 22 receptor, alpha 1 557 integral to membrane interferon receptor activity breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148) TCCAGTTCTGTGGGCTGCTCC 0.607000 94 307 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147600759 147600759 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:147600759G>A ENST00000361727.3 + 14 2717 c.2201G>A c.(2200-2202)cGc>cAc p.R734H NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 734 Fibrinogen C-terminal. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCATCGAACGCAACTGCACA 0.582000 HNSCC(39;0.1) 4 118 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 5 279 0 0 1 0 0 NHP2L1 4809 broad.mit.edu 37 22 42071074 42071074 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:42071074G>A ENST00000401959.1 - 4 566 c.250C>T c.(250-252)Cgc>Tgc p.R84C NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 84 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 TGCTTGGAGCGCACAAACACG 0.577000 6 567 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144620690 144620690 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:144620690C>T ENST00000262577.5 - 2 878 c.847G>A c.(847-849)Gcc>Acc p.A283T NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 283 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) GCCGGTCTGGCGGGGCCCCCC 0.617000 6 772 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470968 92470968 + Missense_Mutation SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:92470968C>G ENST00000267622.4 - 11 3725 c.3352G>C c.(3352-3354)Gaa>Caa p.E1118Q NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1118 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTGTGATATTCTGTTTTTAGA 0.358000 T PDGFRB AML 4 186 0 0 1 0 0 RBFOX2 23543 broad.mit.edu 37 22 36205927 36205927 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:36205927G>A ENST00000405409.2 - 2 520 c.152C>T c.(151-153)gCc>gTc p.A51V RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2 NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1 O43251 RFOX2_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 2 61 estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing cytoplasm|nucleus nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding endometrium(4)|large_intestine(7)|lung(7) 18 GGTCTGGCCGGCATAGTCTTG 0.542000 7 1049 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345759 33345759 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:33345759C>T ENST00000374796.2 - 8 3362 c.792G>A c.(790-792)caG>caA p.Q264Q NCOA6_ENST00000359003.2_Silent_p.Q264Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 264 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q264Q(1) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gttgttgttgctgctgctgct 0.532000 5 264 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902292 1902292 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:1902292G>A ENST00000358771.4 + 3 840 c.688G>A c.(688-690)Gtg>Atg p.V230M SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M|SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 230 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V230M(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATCTGCGAGGTGGCCCACGT 0.612000 6 251 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593025 96593025 + Missense_Mutation SNP C C T rs75189823 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:96593025C>T ENST00000456556.1 - 28 1960 c.1876G>A c.(1876-1878)Gat>Aat p.D626N ankyrin repeat domain 36C p.D626N(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TCTTTCTCATCACTTGTAGCC 0.318000 11 197 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79026738 79026738 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:79026738G>A ENST00000446378.2 + 2 2181 c.2150G>A c.(2149-2151)cGt>cAt p.R717H NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 717 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACAATTGACCGTAAGTCCCCG 0.448000 4 197 0 0 1 0 0 ZNRD1-AS1 0 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 5 167 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110980099 110980099 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:110980099G>A ENST00000394780.3 + 23 2699 c.2687G>A c.(2686-2688)gGc>gAc p.G896D ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 896 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 CCTACACACGGCAGGCCAGGT 0.433000 6 819 0 0 1 0 0 VWC2 375567 broad.mit.edu 37 7 49815696 49815696 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:49815696G>A ENST00000340652.3 + 2 1221 c.665G>A c.(664-666)gGc>gAc p.G222D NM_198570.3 NP_940972.2 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 222 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1) 8 GAGTTCCGGGGCAAGACCTAT 0.617000 7 19 0 0 1 0 0 EXOSC5 56915 broad.mit.edu 37 19 41895788 41895788 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:41895788G>A ENST00000221233.4 - 4 557 c.407C>T c.(406-408)gCc>gTc p.A136V CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|BCKDHA_ENST00000595085.1_Intron NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 136 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 CATGCAGGCGGCATTCAGACA 0.552000 5 380 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22064900 22064900 + Missense_Mutation SNP C C T rs150161793 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:22064900C>T ENST00000306385.5 + 18 3116 c.2446C>T c.(2446-2448)Ccc>Tcc p.P816S BMP1_ENST00000354870.5_3'UTR NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 816 CUB 4. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CGCCAAGGCCCCCGTCCTCGG 0.627000 125 470 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105412407 105412407 + Silent SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:105412407C>A ENST00000333244.5 - 7 9500 c.9381G>T c.(9379-9381)ggG>ggT p.G3127G AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3127 nucleus p.G3127G(1) 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) GGGACAGGTCCCCCTCCAGCC 0.622000 6 520 0.00307968 0.00312285 1 1 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276936 71276936 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:71276936G>A ENST00000398531.1 + 1 328 c.303G>A c.(301-303)aaG>aaA p.K101K KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 101 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 GGGGCTCCAAGGGGGGCTGTG 0.692000 9 1184 0 0 1 0 0 KRTAP10-6 386674 broad.mit.edu 37 21 46011400 46011400 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr21:46011400G>A ENST00000400368.1 - 1 986 c.966C>T c.(964-966)tcC>tcT p.S322S TSPEAR_ENST00000323084.4_Intron NM_198688.2 NP_941961.2 P60371 KR106_HUMAN keratin associated protein 10-6 322 29 X 5 AA repeats of C-C-X(3). keratin filament p.S322S(5) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 AGGCACCACAGGAGGGGACGG 0.692000 5 541 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466799 56466799 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:56466799G>A ENST00000291971.3 + 3 1446 c.1375G>A c.(1375-1377)Gca>Aca p.A459T NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 459 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCACTTGGCCGCAGACAGCAT 0.498000 7 555 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97533539 97533539 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:97533539G>A ENST00000305476.5 - 2 217 c.85C>T c.(85-87)Ccg>Tcg p.P29S NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 29 muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GTCTTACGCGGCACAAGGTTC 0.642000 6 877 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51319018 51319018 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:51319018C>T ENST00000548553.1 + 2 1178 c.197C>T c.(196-198)gCg>gTg p.A66V METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V Q9H8H3 MET7A_HUMAN methyltransferase like 7A 66 endoplasmic reticulum|lipid particle|membrane methyltransferase activity p.A66V(1) endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CAGGAGTTTGCGGGCCCCTCC 0.552000 4 250 0 0 1 0 0 PHF17 0 broad.mit.edu 37 4 129783124 129783124 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:129783124G>A ENST00000226319.6 + 9 1527 c.1247G>A c.(1246-1248)cGt>cAt p.R416H PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 416 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GTGAGTGTCCGTAAGCAGAAG 0.607000 6 498 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 16 229 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 5 188 5.9392e-07 6.13717e-07 1 1 0 MMRN1 22915 broad.mit.edu 37 4 90872802 90872802 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:90872802G>A ENST00000394980.1 + 8 3484 c.3165G>A c.(3163-3165)acG>acA p.T1055T MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000508372.1_Silent_p.T797T|MMRN1_ENST00000394981.1_Silent_p.T358T Q13201 MMRN1_HUMAN multimerin 1 1055 EGF-like. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ATGGGGGCACGTGCATAAATG 0.433000 95 177 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135614834 135614834 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:135614834C>T ENST00000520727.1 - 7 1391 c.1092G>A c.(1090-1092)gcG>gcA p.A364A ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 376 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTGGGTCATGCGCGTCTCGGA 0.552000 7 648 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75457349 75457349 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:75457349G>A ENST00000443782.2 - 1 290 c.165C>T c.(163-165)acC>acT p.T55T RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Silent_p.T55T A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 55 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding p.T55T(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 CAACTTCAACGGTCACCTCAG 0.582000 7 720 0 0 1 0 0 KCNG4 93107 broad.mit.edu 37 16 84256037 84256037 + Missense_Mutation SNP G G A rs142742654 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:84256037G>A ENST00000308251.4 - 3 1414 c.1346C>T c.(1345-1347)cCg>cTg p.P449L NM_172347.2 NP_758857.1 Q8TDN1 KCNG4_HUMAN potassium voltage-gated channel, subfamily G, member 4 449 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 AGACGTGGCCGGGAAGGCCAT 0.627000 5 477 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117869572 117869572 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:117869572G>A ENST00000297338.2 - 6 909 c.622C>T c.(622-624)Cat>Tat p.H208Y RAD21_ENST00000523547.1_5'UTR NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 208 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) TATTCTAAATGGTTAATTTTC 0.358000 58 189 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55814225 55814225 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:55814225C>T ENST00000309383.1 + 10 1295 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C|BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000326848.7_Missense_Mutation_p.R35C NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 340 UBA. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) TCGCGAGCTGCGCAGTGAGGA 0.662000 67 188 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000496791.1_5'UTR|GPX1_ENST00000419349.1_Missense_Mutation_p.P77R NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 7 152 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629152 1629152 + Missense_Mutation SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:1629152C>G ENST00000399685.1 - 1 541 c.464G>C c.(463-465)tGc>tCc p.C155S NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 155 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GGACTGGGAGCAGCTGGGCTT 0.627000 8 1276 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420760 27420760 + Missense_Mutation SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:27420760A>T ENST00000211936.6 - 6 862 c.578T>A c.(577-579)cTt>cAt p.L193H ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTGTGTTACAAGGTTTGAACT 0.368000 73 566 0 0 1 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 10 209 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:35131480A>T ENST00000436258.1 - 0 1889 ATCTTCGTAAAGTGGATGATT 0.423000 5 261 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436628 436628 + Missense_Mutation SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:436628A>T ENST00000338977.5 - 2 1640 c.1592T>A c.(1591-1593)aTc>aAc p.I531N ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 TACATAAAGGATTGCGGACTG 0.403000 7 454 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92470905 92470905 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:92470905C>T ENST00000267622.4 - 11 3788 c.3415G>A c.(3415-3417)Gaa>Aaa p.E1139K NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1139 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) TTTTTATTTTCATCTTGCAGT 0.338000 T PDGFRB AML 4 113 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111554 57111554 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:57111554C>T ENST00000454682.1 - 3 4041 c.3760G>A c.(3760-3762)Ggc>Agc p.G1254S NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GTAGCTGGGCCTCCTTTTGGG 0.662000 T BCL6 NHL 6 790 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152082220 152082220 + Missense_Mutation SNP G G C rs113946258 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:152082220G>C ENST00000368804.1 - 2 3472 c.3473C>G c.(3472-3474)cCg>cGg p.P1158R NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1158 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTCTTCTCCGGTTCCTCTCT 0.592000 8 348 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195516676 195516676 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:195516676G>A ENST00000463781.3 - 2 2234 c.1775C>T c.(1774-1776)aCg>aTg p.T592M MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T592M NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 597 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 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) GGATGTGGCCGTTTTTATCAT 0.493000 8 1467 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73440202 73440202 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:73440202G>A ENST00000263666.4 - 6 1434 c.1320C>T c.(1318-1320)gaC>gaT p.D440D PDZRN3_ENST00000479530.1_Silent_p.D157D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000466780.1_Silent_p.D97D NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 440 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGTCTTCATCGTCCGTCCGGT 0.443000 27 835 0 0 1 0 0 EPS8L2 64787 broad.mit.edu 37 11 722431 722431 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:722431G>A ENST00000533256.1 + 14 1465 c.1090G>A c.(1090-1092)Gca>Aca p.A364T AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T Q9H6S3 ES8L2_HUMAN EPS8-like 2 364 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCCAGACATCGCACGCTCCGT 0.647000 5 258 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161159916 161159916 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:161159916T>C ENST00000348849.3 - 5 915 c.485A>G c.(484-486)aAa>aGa p.K162R RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 162 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) TCCAAATGGTTTGAGCATATT 0.413000 50 294 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50716129 50716129 + Missense_Mutation SNP G G C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:50716129G>C ENST00000449103.1 - 33 5227 c.5087C>G c.(5086-5088)cCc>cGc p.P1696R PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R O15031 PLXB2_HUMAN plexin B2 1696 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GATGAAGTGGGGGTTCTTGAG 0.627000 76 294 0 0 1 0 0 RP11-3P17.4 0 broad.mit.edu 37 3 161146937 161146937 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:161146937G>A ENST00000473595.1 + 0 1231 RP11-3P17.5_ENST00000602890.1_lincRNA NR_102265.1 AATTTTGTTGGCAACATCCAA 0.378000 5 350 0 0 1 0 0 GPR18 0 broad.mit.edu 37 13 99907388 99907388 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr13:99907388G>A ENST00000340807.3 - 3 1295 c.739C>T c.(739-741)Ccc>Tcc p.P247S UBAC2_ENST00000403766.3_Intron|GPR18_ENST00000397473.2_Missense_Mutation_p.P247S|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.P247S Q14330 GPR18_HUMAN G protein-coupled receptor 18 247 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) ATGTGGAAGGGCATAAAGCAG 0.527000 5 421 0 0 1 0 0 C4A 720 broad.mit.edu 37 6 31964274 31964274 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:31964274C>T ENST00000428956.2 + 28 3657 c.3573C>T c.(3571-3573)caC>caT p.H1191H C4A_ENST00000498271.1_Silent_p.H1191H NM_007293.2 NP_009224.2 complement component 4A (Rodgers blood group) TGGGTGCCCACGCAGCTGCCA 0.592000 18 517 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276981 186276981 + Silent SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:186276981A>G ENST00000445192.2 + 7 2175 c.2130A>G c.(2128-2130)aaA>aaG p.K710K PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.K669K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 710 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCTAAAGGGACTGCTC 0.582000 7 712 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2876088 2876088 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:2876088G>A ENST00000602557.1 - 53 8498 c.7943C>T c.(7942-7944)aCg>aTg p.T2648M CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648M|CSMD1_ENST00000400186.3_Intron Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2648 Sushi 17. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GGTGTTGCACGTAAATATAGC 0.488000 7 862 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186275982 186275982 + Silent SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:186275982C>T ENST00000445192.2 + 7 1176 c.1131C>T c.(1129-1131)acC>acT p.T377T PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 377 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACCCCCAAGGAGC 0.637000 8 739 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 99872865 99872865 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:99872865G>A ENST00000524871.1 + 9 1267 c.977G>A c.(976-978)gGc>gAc p.G326D CNTN5_ENST00000528682.1_Missense_Mutation_p.G326D|CNTN5_ENST00000279463.3_Missense_Mutation_p.G326D|CNTN5_ENST00000527185.1_Missense_Mutation_p.G326D|CNTN5_ENST00000418526.2_Missense_Mutation_p.G252D NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 326 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTTGCACTTGGCAAGTAAGTA 0.358000 3 40 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 6 772 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167343484 167343484 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:167343484C>A ENST00000367862.5 + 6 744 c.509C>A c.(508-510)gCc>gAc p.A170D POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.A158D|POU2F1_ENST00000452019.1_Missense_Mutation_p.A158D|POU2F1_ENST00000367866.2_Missense_Mutation_p.A181D|POU2F1_ENST00000429375.2_Intron|POU2F1_ENST00000420254.3_Missense_Mutation_p.A158D NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 158 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 GCCTCTGCTGCCACGCCCATG 0.617000 5 167 1 1 1 1 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 6 769 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196714957 196714957 + Silent SNP A A C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:196714957A>C ENST00000367429.4 + 21 3561 c.3321A>C c.(3319-3321)ggA>ggC p.G1107G NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 1107 Sushi 19. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATTCTACAGGAAAATGTGGGC 0.398000 138 417 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70603864 70603864 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:70603864G>A ENST00000449580.1 + 13 2048 c.1997G>A c.(1996-1998)cGc>cAc p.R666H TAF1_ENST00000373790.4_Missense_Mutation_p.R666H|TAF1_ENST00000423759.1_Missense_Mutation_p.R687H|TAF1_ENST00000276072.3_Missense_Mutation_p.R687H P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 666 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) TTTTTTATGCGCACACCTCAG 0.453000 5 557 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18858860 18858860 + Silent SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:18858860G>A ENST00000446231.2 - 38 6323 c.5911C>T c.(5911-5913)Ctg>Ttg p.L1971L SMG1_ENST00000389467.3_Silent_p.L1971L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 1971 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TGTTGTTGCAGCAAAACTCCC 0.493000 7 400 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211517 78211517 + RNA SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:78211517C>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA TTGCTCAGGACACTCAAGGCC 0.557000 6 759 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 5 425 0 0 1 0 0 FAM102A 399665 broad.mit.edu 37 9 130712784 130712784 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr9:130712784G>A ENST00000373095.1 - 4 707 c.332C>T c.(331-333)gCg>gTg p.A111V FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR NM_001035254.2 NP_001030331.1 Q5T9C2 F102A_HUMAN family with sequence similarity 102, member A 111 breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 GCCCGAGCCCGCAAACTCGGC 0.632000 7 383 0 0 1 0 0 HSFY1P1 0 broad.mit.edu 37 22 17308496 17308496 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:17308496G>A ENST00000425038.1 + 0 133 NR_003607.1 GAATCAACTGGTTCAAAAGCC 0.408000 17 42 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:72664015C>G ENST00000425256.1 - 0 885 NR_002164.1 ATACCACCCCCGGGGCATGCC 0.507000 5 83 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39395723 39395723 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:39395723G>A ENST00000392079.3 + 2 250 c.152G>A c.(151-153)gGc>gAc p.G51D NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D|NFKBIB_ENST00000572515.1_Missense_Mutation_p.G83D Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 83 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) TTCTCGGCCGGCACTGAGTAC 0.587000 6 913 0 0 1 0 0 GLDN 342035 broad.mit.edu 37 15 51696848 51696848 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:51696848C>T ENST00000335449.6 + 10 1609 c.1553C>T c.(1552-1554)gCc>gTc p.A518V GLDN_ENST00000396399.2_Missense_Mutation_p.A394V NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 518 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TCTGTTCTTGCCATGTTAGCA 0.378000 5 598 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 25 73 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110438 29110438 + RNA SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:29110438T>C ENST00000564580.1 + 0 1111 p.L368P(6) TTGCAGTATCTTCAGAGTCTG 0.328000 6 264 0 0 1 0 0 PRSS3P2 0 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 6 290 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 13 136 0 0 1 0 0 WASH3P 0 broad.mit.edu 37 15 102515299 102515299 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:102515299G>A ENST00000557932.1 + 0 1145 p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 6 124 0 0 1 0 0 CPT1B 1375 broad.mit.edu 37 22 51015372 51015372 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr22:51015372G>A ENST00000360719.2 - 4 510 c.373C>T c.(373-375)Cgc>Tgc p.R125C CPT1B_ENST00000312108.7_Missense_Mutation_p.R125C|CPT1B_ENST00000395650.2_Missense_Mutation_p.R125C|CPT1B_ENST00000457250.1_Missense_Mutation_p.R125C|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_5'UTR|CPT1B_ENST00000405237.3_Missense_Mutation_p.R125C|CPT1B_ENST00000440709.1_Missense_Mutation_p.R125C NM_001145135.1|NM_152245.2 NP_001138607.1|NP_689451.1 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B (muscle) 125 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) AGGGTTTGGCGGAAGAAGAAG 0.587000 OREG0026685 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 615 0 0 1 0 0 FAM3C 10447 broad.mit.edu 37 7 120991269 120991269 + Silent SNP A A T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:120991269A>T ENST00000359943.3 - 9 735 c.522T>A c.(520-522)acT>acA p.T174T NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 174 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) AACCAAGATTAGTAATAGATG 0.428000 51 190 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131548 35131548 + RNA SNP G G A rs144021252 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:35131548G>A ENST00000436258.1 - 0 1821 TGGCACCTGCGAAGACAGCAT 0.388000 7 250 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96780765 96780765 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:96780765C>T ENST00000409345.3 - 1 1219 c.1124G>A c.(1123-1125)gGc>gAc p.G375D NM_000682.5 NP_000673.2 P18089 ADA2B_HUMAN adrenoceptor alpha 2B 378 activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CACAAAAACGCCAATGACCAC 0.622000 27 85 0 0 1 0 0 ZFP82 284406 broad.mit.edu 37 19 36884698 36884698 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:36884698G>A ENST00000392161.3 - 5 786 c.544C>T c.(544-546)Cgc>Tgc p.R182C ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AGCTGTTGGCGCACTCTGAAC 0.438000 5 286 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45246062 45246062 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:45246062C>A ENST00000263765.4 + 8 1388 c.1139C>A c.(1138-1140)gCa>gAa p.A380E PRDM11_ENST00000424263.2_Missense_Mutation_p.A346E|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron Q9NQV5 PRD11_HUMAN PR domain containing 11 380 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 AGTCAGTGTGCAACAACAATG 0.582000 6 657 0.00307968 0.00312285 1 1 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_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 5 244 2.7689e-08 2.91675e-08 1 1 0 FBXW12 285231 broad.mit.edu 37 3 48436086 48436086 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:48436086G>A ENST00000296438.5 + 11 1543 c.1357G>A c.(1357-1359)Gac>Aac p.D453N FBXW12_ENST00000445170.1_Missense_Mutation_p.D434N|FBXW12_ENST00000436231.1_Missense_Mutation_p.D296N|FBXW12_ENST00000415155.1_Missense_Mutation_p.D383N|FBXW12_ENST00000468158.1_Intron NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 453 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAAGTAAGTGACTCCAGCAT 0.358000 5 387 0 0 1 0 0 GGTLC1 92086 broad.mit.edu 37 20 23967157 23967157 + Missense_Mutation SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:23967157A>G ENST00000335694.4 - 2 296 c.92T>C c.(91-93)aTg>aCg p.M31T GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T NM_178311.2 NP_842563.1 Q9BX51 GGTL1_HUMAN gamma-glutamyltransferase light chain 1 31 gamma-glutamyltransferase activity p.M31T(6) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 GTCATCCGGCATGTAGAACTC 0.622000 5 342 0 0 1 0 0 CNOT3 4849 broad.mit.edu 37 19 54646728 54646728 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:54646728G>A ENST00000406403.1 + 1 1617 c.14G>A c.(13-15)cGc>cAc p.R5H CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 5 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCGGACAAGCGCAAACTCCAA 0.527000 6 523 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10315769 10315769 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:10315769C>T ENST00000403437.2 - 14 1428 c.1334G>A c.(1333-1335)cGc>cAc p.R445H CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 445 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle p.R445H(1) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CTGGTTGATGCGGGTGACCAT 0.483000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 6 811 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84642125 84642125 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:84642125T>C ENST00000284136.6 - 15 1784 c.1741A>G c.(1741-1743)Atc>Gtc p.I581V SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 581 PSI. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 CACTGGGTGATTGGGTCGCCA 0.393000 7 306 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43622039 43622039 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:43622039C>T ENST00000355710.3 + 19 3288 c.3056C>T c.(3055-3057)gCg>gTg p.A1019V RET_ENST00000340058.5_Missense_Mutation_p.A1019V NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 1019 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TTGGACCTTGCGGCGTCCACT 0.557000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 7 1196 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175899048 175899048 + Missense_Mutation SNP C C T rs151303907 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:175899048C>T ENST00000359240.3 + 5 3042 c.2372C>T c.(2371-2373)aCg>aTg p.T791M ADAM29_ENST00000514159.1_Missense_Mutation_p.T791M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T791M|ADAM29_ENST00000445694.1_Missense_Mutation_p.T791M|RP13-577H12.2_ENST00000507525.1_RNA NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 791 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CCTCAGTTGACGCCTTCCCAG 0.572000 6 655 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242035431 242035431 + Silent SNP G G A rs114631297 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:242035431G>A ENST00000391980.2 - 4 1186 c.1128C>T c.(1126-1128)gaC>gaT p.D376D MTERFD2_ENST00000488567.1_5'UTR|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Silent_p.D188D NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 376 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) CCtcgtcgtcgtcctcatcct 0.483000 5 458 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38049624 38049624 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:38049624G>A ENST00000463876.1 - 14 2482 c.2129C>T c.(2128-2130)gCg>gTg p.A710V PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 689 C2. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) TACCTCAAACGCAAACTCCGT 0.557000 5 434 0 0 1 0 0 HLA-DRB6 0 broad.mit.edu 37 6 32521155 32521155 + RNA SNP G G C rs79811264 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:32521155G>C ENST00000411500.1 - 0 872 NR_001298.1 GGTATTACCTGTTGGCTGAAG 0.403000 4 30 0 0 1 0 0 DPY19L2P1 0 broad.mit.edu 37 7 35131521 35131521 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:35131521G>A ENST00000436258.1 - 0 1848 ACAGCTTGACGCTTGCCATTG 0.398000 6 288 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30955025 30955025 + Missense_Mutation SNP G G A rs55763085 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:30955025G>A ENST00000376296.3 + 2 1314 c.1073G>A c.(1072-1074)aGc>aAc p.S358N MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 358 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane p.S358N(1) NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGTGGGGCCAGCACAGCCACC 0.642000 10 988 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:55035844T>C ENST00000417545.2 + 4 660 c.574T>C c.(574-576)Tac>Cac p.Y192H NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 176 intracellular zinc ion binding p.Y192H(11)|p.Y176H(11) endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGACATATTATACAGGTGAGT 0.338000 5 305 0 0 1 0 0 RYBP 23429 broad.mit.edu 37 3 72428210 72428210 + Missense_Mutation SNP C C A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:72428210C>A ENST00000477973.1 - 3 679 c.680G>T c.(679-681)cGa>cTa p.R227L NM_012234.5 NP_036366.3 Q8N488 RYBP_HUMAN RING1 and YY1 binding protein 0 apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding prostate(1)|upper_aerodigestive_tract(1) 2 Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232) TGATTTGTTTCGCTGGTCTTT 0.393000 63 151 1.03115e-12 1.10227e-12 1 1 0 SNX29P2 0 broad.mit.edu 37 16 29376097 29376097 + RNA SNP A A G TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:29376097A>G ENST00000398878.3 + 0 1525 SNX29P2_ENST00000507381.1_RNA p.M128V(2) CTCTGGGGACATGTTTAAAAA 0.478000 4 359 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714436 65714436 + RNA SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:65714436G>A ENST00000532620.1 + 0 464 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 AAGAAGGACCGCAAGCCCAGG 0.597000 4 250 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59919929 59919929 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr18:59919929C>T ENST00000256858.6 + 12 2014 c.1766C>T c.(1765-1767)gCg>gTg p.A589V KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V Q9P260 K1468_HUMAN KIAA1468 589 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) GTGGCATTTGCGCGTCATGTT 0.388000 5 259 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17720864 17720864 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:17720864G>A ENST00000428389.2 - 44 4959 c.4960C>T c.(4960-4962)Cgg>Tgg p.R1654W UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R1566W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1566 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 ATGAACGGCCGGAAGATGCCA 0.517000 8 642 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109806332 109806332 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:109806332G>A ENST00000271332.3 + 9 4995 c.4934G>A c.(4933-4935)cGc>cAc p.R1645H NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1645 Laminin G-like 2. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CTCATGTTCCGCACGCGCCAG 0.662000 OREG0013632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 524 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124953158 124953158 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:124953158C>T ENST00000360647.4 - 8 1168 c.683G>A c.(682-684)cGc>cAc p.R228H ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 228 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TTCATCACAGCGAAATGGTTT 0.294000 58 288 0 0 1 0 0 AIRE 326 broad.mit.edu 37 21 45710997 45710997 + Missense_Mutation SNP C C T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr21:45710997C>T ENST00000291582.5 + 8 1026 c.899C>T c.(898-900)gCc>gTc p.A300V AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V NM_000383.3 NP_000374.1 O43918 AIRE_HUMAN autoimmune regulator 300 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding p.A103V(1)|p.A300V(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1) 14 Colorectal(79;0.0806) GACGAGTGTGCCGTGTGTCGG 0.657000 Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy 7 487 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902713 40902713 + Missense_Mutation SNP G G A rs144305922 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:40902713G>A ENST00000324001.7 - 7 1816 c.1546C>T c.(1546-1548)Cgg>Tgg p.R516W PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 516 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTGGAAGCCGCACCTCCGGC 0.592000 8 1083 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6380234 6380234 + Silent SNP C C T rs147944662 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:6380234C>T ENST00000335585.5 - 3 257 c.234G>A c.(232-234)ccG>ccA p.P78P PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000507294.1_Silent_p.P71P NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 78 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 AGTCAAACTCCGGCTCGTGGC 0.572000 12 600 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92599977 92599977 + Missense_Mutation SNP G G A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:92599977G>A ENST00000298047.6 + 21 11746 c.11729G>A c.(11728-11730)cGt>cAt p.R3910H FAT3_ENST00000525166.1_Missense_Mutation_p.R3760H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3910 Laminin G-like. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.R3910L(2)|p.R485L(1) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCTCGGGCCGTGCTGTCAAC 0.627000 TCGA Ovarian(4;0.039) 45 131 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4772583 4772585 + In_Frame_Del DEL CCA CCA - rs141981296 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 9 129 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 8 863 --- --- --- --- AADACL3 126767 broad.mit.edu 37 1 12785492 12785493 + Frame_Shift_Ins INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:12785492_12785493insT ENST00000332530.3 + 3 598_599 c.372_373insT c.(370-375)tagtttfs p.*F124fs AADACL3_ENST00000359318.5_Frame_Shift_Ins_p.*F194fs NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 194 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) TCATCTGCTACTGTTTTTTTCA 0.455 7 934 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44447007 44447009 + In_Frame_Del DEL AGC AGC - rs72406230 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:44447007_44447009delAGC ENST00000356836.6 + 2 965_967 c.175_177delAGC c.(175-177)del p.S65del B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 65 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) CCCAGCTGCTagcagcagcagca 0.685 7 418 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325282 47325282 + RNA DEL A A - rs10712628 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:47325282delA ENST00000505841.1 - 0 1204 NR_002788.2 ATTTCAATCCAAACATAGCTG 0.393 7 157 --- --- --- --- CYP4Z2P 0 broad.mit.edu 37 1 47325313 47325315 + RNA DEL GTT GTT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:47325313_47325315delGTT ENST00000505841.1 - 0 1204 NR_002788.2 AAAAAAAAAAGTTGTTTTAAGAC 0.409 8 326 --- --- --- --- ST6GALNAC5 81849 broad.mit.edu 37 1 77334277 77334279 + In_Frame_Del DEL GCA GCA - rs113832855 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:77334277_77334279delGCA ENST00000477717.1 + 2 346_348 c.111_113delGCA c.(109-114)ccg>cc p.PQ37del ST6GALNAC5_ENST00000496845.1_3'UTR NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 37 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AGCGGCCCCCgcagcagcagcag 0.700 8 267 --- --- --- --- RP11-782C8.2 0 broad.mit.edu 37 1 143210446 143210446 + RNA DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:143210446delT ENST00000412204.2 - 0 624 RP11-782C8.1_ENST00000438000.1_lincRNA GTCCATATACTAAAAAGGTTA 0.284 8 49 --- --- --- --- HFE2 148738 broad.mit.edu 37 1 145415369 145415371 + In_Frame_Del DEL GAG GAG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:145415369_145415371delGAG ENST00000336751.5 + 3 426_428 c.188_190delGAG c.(187-192)cga>c p.RG63del HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 63 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAGCACTTCGAGGAGGAGGAGG 0.626 8 414 --- --- --- --- KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT CT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr1:155886422_155886423delCT ENST00000368320.3 - 12 1571_1572 c.1546_1547delAG c.(1546-1548)gfs p.R516fs KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs Q7Z7F0 K0907_HUMAN KIAA0907 516 p.R516fs*21(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 11 808 --- --- --- --- SLC5A6 8884 broad.mit.edu 37 2 27427649 27427685 + Splice_Site DEL CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA CTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA - rs151071040 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:27427649_27427685delCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAA ENST00000310574.3 - 8 1322_1349 c.875_splice c.e8+1 p.283_splice SLC5A6_ENST00000408041.1_Splice_Site_p.283_splice NM_021095.2 NP_066918.2 Q9Y289 SC5A6_HUMAN solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6 283 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity p.T286M(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CTTCCTGTCCCTGCACTCACAGCACAGCAGCCTTCTCCGTGCGGGAACTGAGGTACC 0.591 10 207 --- --- --- --- DHX57 90957 broad.mit.edu 37 2 39095411 39095413 + In_Frame_Del DEL CCA CCA - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:39095411_39095413delCCA ENST00000295373.6 - 2 261_263 c.135_137delTGG c.(133-138)gga>gg p.GG47del NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 47 Gly-rich. ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) Gccgccacctccaccaccaccac 0.532 7 480 --- --- --- --- USP34 9736 broad.mit.edu 37 2 61575023 61575025 + In_Frame_Del DEL TGG TGG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:61575023_61575025delTGG ENST00000398571.2 - 15 2341_2343 c.2265_2267delCCA c.(2263-2268)cat>ca p.HH759del NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 759 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) gtggtggtgatggtggtggtggt 0.389 8 321 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687542 74687543 + Frame_Shift_Ins INS - - C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:74687542_74687543insC ENST00000393972.3 + 5 849_850 c.646_647insC c.(646-648)cccfs p.P216fs WBP1_ENST00000409737.1_Frame_Shift_Ins_p.P179fs|WBP1_ENST00000233615.2_Frame_Shift_Ins_p.P182fs|WBP1_ENST00000494741.1_3'UTR Q96G27 WBP1_HUMAN WW domain binding protein 1 182 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 CCACCAGAGTGCCCCCCCTCAT 0.604 8 738 --- --- --- --- WBP1 23559 broad.mit.edu 37 2 74687550 74687550 + Frame_Shift_Del DEL T T - rs8469 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:74687550delT ENST00000393972.3 + 5 857 c.654delT c.(652-654)ccfs p.P218fs WBP1_ENST00000409737.1_Frame_Shift_Del_p.P181fs|WBP1_ENST00000233615.2_Frame_Shift_Del_p.P184fs|WBP1_ENST00000494741.1_3'UTR Q96G27 WBP1_HUMAN WW domain binding protein 1 184 WW domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1) 8 GTGCCCCCCCTCATCAGGAGG 0.612 8 760 --- --- --- --- CHMP3 51652 broad.mit.edu 37 2 86732976 86732978 + In_Frame_Del DEL TCC TCC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:86732976_86732978delTCC ENST00000263856.4 - 6 746_748 c.618_620delGGA c.(616-621)gaa>ga p.EE206del CHMP3_ENST00000439940.2_In_Frame_Del_p.EE235del|RNF103-CHMP3_ENST00000604011.1_In_Frame_Del_p.EE235del|CHMP3_ENST00000409225.2_In_Frame_Del_p.EE140del|CHMP3_ENST00000409727.1_In_Frame_Del_p.EE166del NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 CAGAGCCTCTTCCTCCTCCTCCT 0.616 7 388 --- --- --- --- SCN9A 6335 broad.mit.edu 37 2 167055992 167055992 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:167055992delT ENST00000375387.4 - 27 5500 c.5160delA c.(5158-5160)aafs p.K1720fs SCN9A_ENST00000409435.1_Frame_Shift_Del_p.K1719fs|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.K1708fs|SCN9A_ENST00000303354.6_Frame_Shift_Del_p.K1720fs|AC010127.3_ENST00000447809.2_RNA Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1719 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CAGGATGAACTTTTTTTGGGT 0.423 9 1232 --- --- --- --- ANKRD44 91526 broad.mit.edu 37 2 197943383 197943384 + Frame_Shift_Del DEL TG TG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:197943383_197943384delTG ENST00000409153.1 - 16 1875_1876 c.1693_1694delCA c.(1693-1695)tfs p.H565fs ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 811 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) ATTTGGGGTATGTGTGTGTGTG 0.411 7 62 --- --- --- --- CCDC108 255101 broad.mit.edu 37 2 219892687 219892687 + Frame_Shift_Del DEL G G - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr2:219892687delG ENST00000341552.5 - 13 1979 c.1896delC c.(1894-1896)ccfs p.P632fs CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 632 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTCGGTCATGGGGGGGATAT 0.597 7 670 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723112 49723112 + Frame_Shift_Del DEL T T - rs11288337 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:49723112delT ENST00000449682.2 - 11 1665 c.1304delA c.(1303-1305)acfs p.N435fs MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 421 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCCATCTGGGTTCCGGCAGAA 0.587 9 292 --- --- --- --- PARP3 10039 broad.mit.edu 37 3 51978150 51978152 + In_Frame_Del DEL AAC AAC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:51978150_51978152delAAC ENST00000417220.2 + 4 717_719 c.229_231delAAC c.(229-231)del p.N80del PARP3_ENST00000431474.1_In_Frame_Del_p.N80del|PARP3_ENST00000398755.3_In_Frame_Del_p.N87del Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 80 N -> K (in Ref. 2; AAD29855). DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CAACATCGAGAACAACAACAACA 0.596 7 990 --- --- --- --- FILIP1L 11259 broad.mit.edu 37 3 99568273 99568273 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:99568273delT ENST00000331335.5 - 5 2717 c.2247delA c.(2245-2247)aafs p.K749fs FILIP1L_ENST00000471562.1_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Del_p.K749fs|FILIP1L_ENST00000383694.2_Frame_Shift_Del_p.K509fs|FILIP1L_ENST00000487087.1_Frame_Shift_Del_p.K325fs|CMSS1_ENST00000496116.1_Intron NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 749 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GTTGATTTAGTTTTTTTTGCA 0.403 8 607 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 12 1040 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 9 413 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs NM_014375.2 NP_055190.2 Q9UGM5 FETUB_HUMAN fetuin B 143 extracellular space cysteine-type endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1) 20 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) CAACAGTTTCAAAAAAAAAGA 0.418 14 527 --- --- --- --- FIP1L1 81608 broad.mit.edu 37 4 54319248 54319249 + Frame_Shift_Del DEL AG AG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:54319248_54319249delAG ENST00000337488.6 + 16 1641_1642 c.1447_1448delAG c.(1447-1449)afs p.R483fs FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 483 Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3. mRNA processing nucleus RNA binding p.R487fs*3(2) large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) agaACGCACCAGAGAGAGAGAG 0.470 T PDGFRA idiopathic hypereosinophilic syndrome 29 337 --- --- --- --- CDKL2 8999 broad.mit.edu 37 4 76539579 76539580 + Frame_Shift_Ins INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:76539579_76539580insT ENST00000429927.2 - 3 925_926 c.222_223insA c.(220-225)aagatgfs p.M75fs CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 75 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGTACCATCGTTTTTTTTTCT 0.322 10 246 --- --- --- --- SCLT1 132320 broad.mit.edu 37 4 129864163 129864163 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:129864163delT ENST00000281142.5 - 17 2123 c.1620delA c.(1618-1620)aafs p.K540fs SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 540 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTACTTTGGCTTTTTTTTGAG 0.353 7 375 --- --- --- --- MAML3 55534 broad.mit.edu 37 4 140811064 140811069 + In_Frame_Del DEL TGCTGC TGCTGC - rs71855026 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr4:140811064_140811069delTGCTGC ENST00000509479.2 - 2 2377_2382 c.1521_1526delGCAGCA c.(1519-1527)caa>ca p.QQQ507del MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 506 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGAGtgctgttgctgctgctgctgct 0.515 14 365 --- --- --- --- EGR1 1958 broad.mit.edu 37 5 137801684 137801686 + In_Frame_Del DEL CAG CAG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:137801684_137801686delCAG ENST00000239938.4 + 1 506_508 c.234_236delCAG c.(232-237)aac>aa p.NS78del NM_001964.2 NP_001955.1 P18146 EGR1_HUMAN early growth response 1 78 Gly/Ser-rich. cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) gcggcagcaacagcagcagcagc 0.724 7 81 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 7 45 --- --- --- --- CYP21A1P 0 broad.mit.edu 37 6 31975223 31975224 + RNA INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:31975223_31975224insT ENST00000342991.6 + 0 1346_1347 NR_040090.1 Q5ST44 Q5ST44_HUMAN electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen CTGGGCCGTGGTTTTTTTTGCT 0.614 8 840 --- --- --- --- HLA-DRB6 0 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 7 89 --- --- --- --- TMEM184A 202915 broad.mit.edu 37 7 1586662 1586663 + In_Frame_Ins INS - - GCC rs3837151 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:1586662_1586663insGCC ENST00000297477.5 - 9 1483_1484 c.1167_1168insGGC c.(1165-1170)ccgcgg>ccGGCgcgg p.389_390PR>PAR NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 389 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) GAGCCGCCGCTGGGGTGGGTGC 0.703 8 186 --- --- --- --- BBS9 27241 broad.mit.edu 37 7 33312723 33312723 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:33312723delT ENST00000242067.6 + 8 1323 c.802delT c.(802-804)ttfs p.F269fs BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 269 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGAGAGAAACTTTTTTTGCCT 0.393 Bardet-Biedl syndrome 8 660 --- --- --- --- PSPH 5723 broad.mit.edu 37 7 56087292 56087292 + Splice_Site DEL C C - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:56087292delC ENST00000395471.3 - 5 1081 c.e5+1 PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site P78330 SERB_HUMAN phosphoserine phosphatase L-serine biosynthetic process cytoplasm calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1) 11 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTCCTCTTACCTTATGCCGG 0.577 14 299 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 8 338 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112249 76112249 + Frame_Shift_Del DEL A A - rs147779783 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:76112249delA ENST00000324432.5 + 5 1203 c.693delA c.(691-693)ccfs p.P231fs DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs 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 9 1586 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133160181 133160181 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr7:133160181delT ENST00000253861.4 + 8 1311 c.1282delT c.(1282-1284)ttfs p.F429fs EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 429 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTTTGCAGCCTTTTTTGCCAA 0.378 7 735 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 12957611 12957613 + In_Frame_Del DEL GCT GCT - rs137989738 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:12957611_12957613delGCT ENST00000276297.4 - 9 2642_2644 c.2233_2235delAGC c.(2233-2235)del p.S745del DLC1_ENST00000520226.1_In_Frame_Del_p.S234del|DLC1_ENST00000358919.2_In_Frame_Del_p.S308del|DLC1_ENST00000512044.2_In_Frame_Del_p.S342del NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 745 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TCTCCGACTGGCTGCTGCTGCTG 0.621 7 309 --- --- --- --- SFTPC 6440 broad.mit.edu 37 8 22020159 22020161 + In_Frame_Del DEL GTG GTG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:22020159_22020161delGTG ENST00000521315.1 + 2 147_149 c.115_117delGTG c.(115-117)del p.V44del SFTPC_ENST00000520605.1_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|SFTPC_ENST00000524255.1_Intron 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 11 662 --- --- --- --- CDCA2 157313 broad.mit.edu 37 8 25365019 25365019 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:25365019delA ENST00000330560.3 + 15 3314 c.2837delA c.(2836-2838)cafs p.Q946fs CDCA2_ENST00000380665.3_Frame_Shift_Del_p.Q931fs|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 946 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TCCTCCAGACAAAAACCGCAG 0.468 7 1031 --- --- --- --- RP11-513H8.1 0 broad.mit.edu 37 8 135331910 135331935 + RNA DEL CCAGGGAGAGGGTGTGAGGGGTCAAT CCAGGGAGAGGGTGTGAGGGGTCAAT - rs13271339 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:135331910_135331935delCCAGGGAGAGGGTGTGAGGGGTCAAT ENST00000523317.1 - 0 84 CCACAGCAGCCCAGGGAGAGGGTGTGAGGGGTCAATCCAGGGAGAG 0.544 2 4 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142444235 142444238 + RNA DEL GGGT GGGT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:142444235_142444238delGGGT ENST00000430863.1 - 0 3937 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 GGTGTTGGGGGGGTGGGGGGTGGG 0.637 7 14 --- --- --- --- TSNARE1 203062 broad.mit.edu 37 8 143310866 143310868 + In_Frame_Del DEL GAT GAT - rs142964918 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr8:143310866_143310868delGAT ENST00000524325.1 - 13 1691_1693 c.1516_1518delATC c.(1516-1518)del p.I506del TSNARE1_ENST00000520166.1_In_Frame_Del_p.I507del|TSNARE1_ENST00000307180.3_In_Frame_Del_p.I507del Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 507 Poly-Ile. vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CAGAGGTGGCGATGATGATGATG 0.512 9 569 --- --- --- --- ZMYND19 116225 broad.mit.edu 37 9 140481542 140481542 + Frame_Shift_Del DEL C C - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr9:140481542delC ENST00000298585.2 - 4 462 c.236delG c.(235-237)gcfs p.G79fs ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 79 Golgi apparatus|plasma membrane zinc ion binding p.V80fs*34(2) endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CGGGGCCACGCCCCCCCGGTG 0.632 9 810 --- --- --- --- DIP2C 22982 broad.mit.edu 37 10 412274 412275 + Frame_Shift_Del DEL CA CA - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:412274_412275delCA ENST00000280886.6 - 19 2295_2296 c.2208_2209delTG c.(2206-2211)tgcafs p.CA736fs DIP2C_ENST00000381496.3_Frame_Shift_Del_p.CA629fs|DIP2C_ENST00000540204.1_Frame_Shift_Del_p.CA57fs NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 736 nucleus catalytic activity|transcription factor binding p.A737fs*15(1) breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GTCGCAACTGCACACACACACA 0.540 7 179 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81072446 81072446 + Frame_Shift_Del DEL C C - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:81072446delC ENST00000334512.5 + 25 3716 c.3144delC c.(3142-3144)gafs p.D1048fs ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CTTATCTGGACCCCCCCGACC 0.557 8 1204 --- --- --- --- TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 7 489 --- --- --- --- NOLC1 9221 broad.mit.edu 37 10 103919000 103919002 + In_Frame_Del DEL AGC AGC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:103919000_103919002delAGC ENST00000405356.1 + 6 893_895 c.658_660delAGC c.(658-660)del p.S227del NOLC1_ENST00000603742.1_5'UTR|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 227 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) tagcagcagtagcagcagcagca 0.517 8 779 --- --- --- --- KNDC1 85442 broad.mit.edu 37 10 135027504 135027504 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr10:135027504delA ENST00000304613.3 + 26 4576 c.4555delA c.(4555-4557)aafs p.K1519fs KNDC1_ENST00000368572.2_Frame_Shift_Del_p.K1521fs Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1519 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TCTTTCGGCCAAAACCTGCAG 0.547 8 817 --- --- --- --- CDHR5 53841 broad.mit.edu 37 11 618994 618994 + Frame_Shift_Del DEL G G - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:618994delG ENST00000358353.3 - 14 1887 c.1565delC c.(1564-1566)cgfs p.P522fs CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P522fs|CDHR5_ENST00000349570.7_Intron Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 522 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TTCTGCACCCGGGGGCCCCCC 0.677 13 1078 --- --- --- --- OR10A5 144124 broad.mit.edu 37 11 6867223 6867225 + In_Frame_Del DEL TTC TTC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:6867223_6867225delTTC ENST00000299454.4 + 1 341_343 c.310_312delTTC c.(310-312)del p.F108del OR10A5_ENST00000379831.2_In_Frame_Del_p.F112del Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCAGATGTATTTCTTCTTCTTCT 0.517 7 588 --- --- --- --- FNBP4 23360 broad.mit.edu 37 11 47788664 47788669 + In_Frame_Del DEL GGTGGT GGTGGT - rs59413596 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:47788664_47788669delGGTGGT ENST00000263773.5 - 1 184_189 c.172_177delACCACC c.(172-177)del p.TT58del FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 58 p.T58_T59delTT(3) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CAGTCACCGCGGTGGTGGTGGTCGTC 0.748 10 18 --- --- --- --- DDX10 1662 broad.mit.edu 37 11 108788635 108788637 + In_Frame_Del DEL TGA TGA - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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* 8 319 --- --- --- --- CBL 867 broad.mit.edu 37 11 119149356 119149358 + In_Frame_Del DEL ATG ATG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr11:119149356_119149358delATG ENST00000264033.4 + 9 1740_1742 c.1364_1366delATG c.(1363-1368)tat>t p.YD455del NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 455 Asp/Glu-rich (acidic). epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding p.E366_K477del(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) TCCCCAAATTATGATGATGATGA 0.473 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 9 321 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)cca>cc p.PP238del IFFO1_ENST00000396840.2_In_Frame_Del_p.PP541del|IFFO1_ENST00000465801.1_In_Frame_Del_p.PP237del|IFFO1_ENST00000356896.4_In_Frame_Del_p.PP545del|IFFO1_ENST00000336604.4_In_Frame_Del_p.PP544del Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 7 525 --- --- --- --- MYO1A 4640 broad.mit.edu 37 12 57422572 57422573 + Frame_Shift_Ins INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:57422572_57422573insT ENST00000442789.2 - 29 3385_3386 c.3098_3099insA c.(3097-3099)aggfs p.R1033fs MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 AATGACTCCCCTTTTTTTTGTA 0.559 7 539 --- --- --- --- R3HDM2 22864 broad.mit.edu 37 12 57674205 57674207 + In_Frame_Del DEL TGC TGC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:57674205_57674207delTGC ENST00000402412.1 - 14 1668_1670 c.1278_1280delGCA c.(1276-1281)caa>ca p.QQ426del RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000413953.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000358907.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000393811.2_In_Frame_Del_p.QQ139del|R3HDM2_ENST00000441731.2_In_Frame_Del_p.QQ73del|R3HDM2_ENST00000403821.2_In_Frame_Del_p.QQ412del|R3HDM2_ENST00000347140.3_In_Frame_Del_p.QQ412del Q9Y2K5 R3HD2_HUMAN R3H domain containing 2 412 Gln-rich. nucleus nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 22 AGCAGGAAGTtgctgctgctgct 0.576 8 364 --- --- --- --- ARHGEF25 115557 broad.mit.edu 37 12 58010623 58010623 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:58010623delA ENST00000286494.4 + 15 2149 c.1689delA c.(1687-1689)ccfs p.P563fs ARHGEF25_ENST00000333972.7_Frame_Shift_Del_p.P602fs|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA NM_182947.3 NP_891992.2 Q86VW2 ARHGP_HUMAN Rho guanine nucleotide exchange factor (GEF) 25 563 regulation of Rho protein signal transduction cytosol|plasma membrane|sarcomere Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 28 CTCCAACTCCAAAAACCCCTC 0.537 7 985 --- --- --- --- DPY19L2 283417 broad.mit.edu 37 12 64061890 64061890 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr12:64061890delT ENST00000324472.4 - 1 467 c.284delA c.(283-285)agfs p.K95fs RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 95 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TTCCTGCACCTTTTCCCGGAG 0.612 8 603 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 8 27 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 9 104 --- --- --- --- TSC22D1 8848 broad.mit.edu 37 13 45148691 45148693 + In_Frame_Del DEL TGT TGT - rs148625973 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr13:45148691_45148693delTGT ENST00000458659.2 - 1 2008_2010 c.1518_1520delACA c.(1516-1521)cag>ca p.QQ508del TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 508 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) TGgttgttgctgttgttgttgtt 0.502 7 595 --- --- --- --- ABCC4 10257 broad.mit.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 7 339 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23341527 23341529 + In_Frame_Del DEL CCT CCT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:23341527_23341529delCCT ENST00000359591.4 + 1 706_708 c.15_17delCCT c.(13-18)acc>ac p.TL5del LRP10_ENST00000546834.1_In_Frame_Del_p.TL5del NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 5 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) TGTTGGCCACCCTCCTCCTCCTC 0.670 10 614 --- --- --- --- IL25 0 broad.mit.edu 37 14 23845057 23845058 + Frame_Shift_Del DEL TG TG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:23845057_23845058delTG ENST00000329715.2 + 2 760_761 c.502_503delTG c.(502-504)tfs p.C168fs IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 168 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) TTCCTTAGCTTGTGTGTGTGTG 0.604 7 624 --- --- --- --- OTX2-AS1 0 broad.mit.edu 37 14 57509058 57509064 + RNA DEL TCCAAGC TCCAAGC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:57509058_57509064delTCCAAGC ENST00000554725.1 + 0 344 CCAGAAGCCTTCCAAGCTCCAAGCCCT 0.483 10 62 --- --- --- --- MLH3 27030 broad.mit.edu 37 14 75514603 75514604 + Frame_Shift_Ins INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:75514603_75514604insT ENST00000355774.2 - 2 1970_1971 c.1755_1756insA c.(1753-1758)aaaatcfs p.I586fs MLH3_ENST00000556257.1_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Frame_Shift_Ins_p.I586fs|MLH3_ENST00000556740.1_Frame_Shift_Ins_p.I586fs NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 586 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding p.A577_S588delAQTEKEKKKESS(2)|p.E586*(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTGCTAGATTCTTTTTTTTTCT 0.356 Mismatch excision repair (MMR) 13 450 --- --- --- --- IGHV3-21 0 broad.mit.edu 37 14 106691799 106691801 + RNA DEL ACT ACT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:106691799_106691801delACT ENST00000390607.2 - 0 301_303 AGTATATGTAACTACTACTACTA 0.517 9 973 --- --- --- --- IGHV3-48 0 broad.mit.edu 37 14 106993939 106993941 + RNA DEL TAC TAC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr14:106993939_106993941delTAC ENST00000390624.2 - 0 302_304 TAGTATATGGTACTACTACTACT 0.502 12 1449 --- --- --- --- SPINT1 6692 broad.mit.edu 37 15 41149075 41149077 + In_Frame_Del DEL CAC CAC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:41149075_41149077delCAC ENST00000344051.4 + 11 1726_1728 c.1492_1494delCAC c.(1492-1494)del p.H501del SPINT1_ENST00000562057.1_In_Frame_Del_p.H485del|SPINT1_ENST00000431806.1_In_Frame_Del_p.H485del O43278 SPIT1_HUMAN serine peptidase inhibitor, Kunitz type 1 501 extracellular region|membrane fraction protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 16 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTTCCACGGACACCACCACCACC 0.586 7 1220 --- --- --- --- EIF3J 8669 broad.mit.edu 37 15 44829395 44829397 + Translation_Start_Site DEL GGC GGC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:44829395_44829397delGGC ENST00000261868.5 + 0 141_143 EIF3J_ENST00000535391.1_Start_Codon_Del|EIF3J_ENST00000424492.3_Start_Codon_Del NM_003758.2 NP_003749.2 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, subunit J cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|large_intestine(5)|liver(2)|skin(1) 9 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) GGCTCGAGATggcggcggcggcg 0.719 7 133 --- --- --- --- KIAA1024 23251 broad.mit.edu 37 15 79750585 79750586 + Frame_Shift_Ins INS - - A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:79750585_79750586insA ENST00000305428.3 + 2 2171_2172 c.2096_2097insA c.(2095-2097)taafs p.*699fs NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 699 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 GTCAAGGCCTTAAAAAAAAGCC 0.545 8 661 --- --- --- --- MESP2 145873 broad.mit.edu 37 15 90320135 90320146 + In_Frame_Del DEL GGGCAGGGGCAG GGGCAGGGGCAG - rs56192595 by1000genomes TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr15:90320135_90320146delGGGCAGGGGCAG ENST00000341735.3 + 1 547_558 c.547_558delGGGCAGGGGCAG c.(547-558)del p.GQGQ199del MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 199 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(1) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) gcaggggcaagggcaggggcaggggcaggggc 0.783 8 20 --- --- --- --- RP11-44F14.1 0 broad.mit.edu 37 16 53404542 53404543 + RNA INS - - A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr16:53404542_53404543insA ENST00000565421.1 - 0 410 TCTCCTTTCTCAAACTTAACCT 0.327 21 144 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89349640 89349641 + Frame_Shift_Ins INS - - T TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 12 709 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7495872 7495874 + In_Frame_Del DEL CGG CGG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:7495872_7495874delCGG ENST00000250113.7 - 15 2107_2109 c.1773_1775delCCG c.(1771-1776)cgt>cg p.RR591del MPDU1_ENST00000423172.2_3'UTR NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 591 Poly-Arg. R -> P (in dbSNP:rs36013555). cytosolic large ribosomal subunit protein binding|RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) ACCACGGTTACGGCGGCGGCGGC 0.547 8 1110 --- --- --- --- FXR2 9513 broad.mit.edu 37 17 7496122 7496122 + Frame_Shift_Del DEL G G - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:7496122delG ENST00000250113.7 - 14 1953 c.1619delC c.(1618-1620)cafs p.P540fs NM_004860.3 NP_004851.2 P51116 FXR2_HUMAN fragile X mental retardation, autosomal homolog 2 540 cytosolic large ribosomal subunit protein binding|RNA binding p.P540fs*32(1)|p.A541fs*14(1) NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1) 26 READ - Rectum adenocarcinoma(115;0.17) GGCACTTGCTGGGGGGGGTTC 0.612 7 300 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578373 7578373 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:7578373delT ENST00000420246.2 - 5 689 c.557delA c.(556-558)gtfs p.D186fs TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 186 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(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) CTGCTCACCATCGCTATCTGA 0.642 111 """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) 111 115 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27001303 27001305 + In_Frame_Del DEL GAG GAG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:27001303_27001305delGAG ENST00000314616.6 + 3 395_397 c.112_114delGAG c.(112-114)del p.E43del SUPT6H_ENST00000347486.4_In_Frame_Del_p.E43del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 43 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TCTTCCAGATGAGGAGGAGGAGG 0.453 8 197 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27027202 27027204 + In_Frame_Del DEL AGC AGC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:27027202_27027204delAGC ENST00000314616.6 + 34 4856_4858 c.4573_4575delAGC c.(4573-4575)del p.S1528del SUPT6H_ENST00000347486.4_In_Frame_Del_p.S1528del NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1528 Poly-Ser. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CATCACCCCTAGCAGCAGCAGCA 0.537 14 1232 --- --- --- --- SRP68 6730 broad.mit.edu 37 17 74068528 74068530 + In_Frame_Del DEL GCC GCC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr17:74068528_74068530delGCC ENST00000307877.2 - 1 204_206 c.43_45delGGC c.(43-45)del p.G15del SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR NM_014230.3 NP_055045.2 Q9UHB9 SRP68_HUMAN signal recognition particle 68kDa 15 Poly-Gly. Missing (in Ref. 1). response to drug cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting RNA binding|signal recognition particle binding NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3) 23 cgccgccactgccgccgccgccg 0.709 8 256 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr18:54358513delG ENST00000254442.3 + 8 995 c.784delG c.(784-786)ggfs p.G263fs WDR7_ENST00000357574.3_Frame_Shift_Del_p.G263fs|WDR7_ENST00000589935.1_Intron NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 263 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GACATGGACCGGGGGGGACTT 0.418 7 468 --- --- --- --- ZNF236 7776 broad.mit.edu 37 18 74593429 74593430 + Frame_Shift_Ins INS - - A TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr18:74593429_74593430insA ENST00000253159.8 + 9 1570_1571 c.1372_1373insA c.(1372-1374)aaafs p.K458fs ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 458 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GGATAAAAAAGAAAAAAAAATG 0.381 8 280 --- --- --- --- YIPF2 78992 broad.mit.edu 37 19 11038362 11038364 + In_Frame_Del DEL GCT GCT - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:11038362_11038364delGCT ENST00000586748.1 - 4 393_395 c.221_223delAGC c.(220-225)ccg>c p.QP74del YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del Q9BWQ6 YIPF2_HUMAN Yip1 domain family, member 2 74 integral to membrane|transport vesicle cervix(1)|endometrium(1)|lung(3)|ovary(2) 7 CAGAATCCCGgctgctgctgctg 0.621 8 312 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461741 12461741 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:12461741delA ENST00000242804.4 - 6 1240 c.658delT c.(658-660)ggfs p.W220fs ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 220 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 AAACTAGGCCAAAAAAAGGCT 0.403 7 695 --- --- --- --- BRD4 23476 broad.mit.edu 37 19 15355552 15355552 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:15355552delT ENST00000263377.2 - 12 2401 c.2180delA c.(2179-2181)agfs p.K728fs NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 728 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GTGCCCCTTCTTTTTTGACTT 0.572 T C15orf55 lethal midline carcinoma of young people 7 960 --- --- --- --- LSM14A 26065 broad.mit.edu 37 19 34710340 34710340 + Frame_Shift_Del DEL C C - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:34710340delC ENST00000544216.3 + 7 903 c.826delC c.(826-828)ggfs p.R276fs LSM14A_ENST00000540746.2_Frame_Shift_Del_p.R235fs|LSM14A_ENST00000433627.5_Frame_Shift_Del_p.R276fs NM_015578.2 NP_056393.2 Q8ND56 LS14A_HUMAN LSM14A, SCD6 homolog A (S. cerevisiae) 276 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TGGGGGTCATCGGGGTGGCAG 0.438 7 601 --- --- --- --- C19orf55 148137 broad.mit.edu 37 19 36255947 36255949 + In_Frame_Del DEL CTC CTC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:36255947_36255949delCTC ENST00000544099.1 + 7 702_704 c.639_641delCTC c.(637-642)atc>at p.IS213del C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del Q2NL68 CS055_HUMAN chromosome 19 open reading frame 55 213 Ser-rich. cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AAGCCTCCATCTCCTCCTCCTCC 0.631 14 1371 --- --- --- --- FLT3LG 0 broad.mit.edu 37 19 49978960 49978962 + In_Frame_Del DEL CTG CTG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:49978960_49978962delCTG ENST00000594009.1 + 2 125_127 c.46_48delCTG c.(46-48)del p.L20del FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR NM_001204503.1 NP_001191432.1 P49771 FLT3L_HUMAN fms-related tyrosine kinase 3 ligand 20 positive regulation of cell proliferation|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 10 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) CTATCTCCTCCTGCTGCTGCTGC 0.621 10 460 --- --- --- --- ZNF880 400713 broad.mit.edu 37 19 52877717 52877717 + Frame_Shift_Del DEL T T - rs77187934 TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr19:52877717delT ENST00000597976.1 + 3 325 c.305delT c.(304-306)atfs p.I102fs ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron Q6PDB4 ZN880_HUMAN zinc finger protein 880 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 GGCCCCATAAttttttttttt 0.473 9 45 --- --- --- --- BFSP1 631 broad.mit.edu 37 20 17474884 17474884 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr20:17474884delT ENST00000377873.3 - 8 1872 c.1833delA c.(1831-1833)aafs p.K611fs BFSP1_ENST00000544874.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000536626.1_Frame_Shift_Del_p.K472fs|BFSP1_ENST00000377868.2_Frame_Shift_Del_p.K486fs NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 611 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 TGGGAGGGCCTTTTTCTGGCA 0.527 7 775 --- --- --- --- KIF3B 9371 broad.mit.edu 37 20 30898763 30898765 + In_Frame_Del DEL GAG GAG - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 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 7 220 --- --- --- --- CBR3 874 broad.mit.edu 37 21 37510175 37510175 + Frame_Shift_Del DEL T T - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chr21:37510175delT ENST00000290354.5 + 2 623 c.342delT c.(340-342)aafs p.N114fs CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA NM_001236.3 NP_001227.1 O75828 CBR3_HUMAN carbonyl reductase 3 114 cytosol|nucleus carbonyl reductase (NADPH) activity|NADPH binding kidney(1)|large_intestine(1)|lung(1) 3 TGAAGACAAATTTTTTTGCCA 0.408 7 631 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44929370 44929371 + Frame_Shift_Ins INS - - C TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:44929370_44929371insC ENST00000377967.4 + 17 2511_2512 c.2470_2471insC c.(2470-2472)aacfs p.N824fs KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.N831fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.N745fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.N779fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 824 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTCAGCCATTTCAACAGCAACA 0.450 """D, N, F, S""" """renal, oesophageal SCC, MM""" 28 147 --- --- --- --- FAM155B 27112 broad.mit.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:68725672delA ENST00000252338.4 + 1 589 c.547delA c.(547-549)aafs p.K184fs NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 184 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 CCCCTCCGCCAAAAAAAACTT 0.592 10 457 --- --- --- --- TSIX 0 broad.mit.edu 37 X 73047124 73047125 + RNA DEL AC AC - TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:73047124_73047125delAC ENST00000604411.1 + 0 35085_35086 XIST_ENST00000429829.1_lincRNA NR_003255.2 GCCACACATGACACACACACAC 0.470 12 547 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149937526 149937528 + In_Frame_Del DEL GGC GGC - rs7877654 byFrequency TCGA-US-A779-01A-11D-A32N-08 TCGA-US-A779-11A-11D-A32N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce 1b04dc15-eff1-4be8-a22d-75f22e9b0cb8 g.chrX:149937526_149937528delGGC ENST00000370377.3 - 11 885_887 c.768_770delGCC c.(766-771)ccc>cc p.PP256del CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 256 Poly-Pro. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGGTTCGGGCGGCGGCGGCG 0.611 7 1221 --- --- --- ---