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 ITPR2 3709 broad.mit.edu 37 12 26784902 26784902 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:26784902G>A ENST00000381340.3 - 22 3247 c.2831C>T c.(2830-2832)cCg>cTg p.P944L RP11-666F17.1_ENST00000414098.2_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 944 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) TGGCACATCCGGCACGCTCAT 0.542000 23 225 0 0 1 0 0 PDILT 204474 broad.mit.edu 37 16 20370764 20370764 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr16:20370764G>A ENST00000302451.4 - 12 1880 c.1632C>T c.(1630-1632)taC>taT p.Y544Y NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 544 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.Y544Y(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GCTTGGATACGTACTTGGTCA 0.512000 109 199 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802016 185802016 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:185802016G>A ENST00000302277.6 + 4 2487 c.1893G>A c.(1891-1893)ggG>ggA p.G631G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 631 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 AAAATGCTGGGAAATATCTAT 0.353000 99 158 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179542480 179542480 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:179542480C>T ENST00000589042.1 - 146 34383 c.34159G>A c.(34159-34161)Gaa>Aaa p.E11387K TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11070K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10143K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11070 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTCTTCTTCAGGTAGAACT 0.433000 26 190 0 0 1 0 0 FOXJ1 2302 broad.mit.edu 37 17 74136150 74136150 + Silent SNP G G A rs145296122 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr17:74136150G>A ENST00000322957.6 - 2 681 c.327C>T c.(325-327)ccC>ccT p.P109P NM_001454.3 NP_001445.2 Q92949 FOXJ1_HUMAN forkhead box J1 109 actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(1)|liver(1)|pancreas(1)|skin(1) 4 LUSC - Lung squamous cell carcinoma(166;0.187) CCACGTCGTCGGGGGGTGGGG 0.706000 7 46 0 0 1 0 0 ZFR 51663 broad.mit.edu 37 5 32407029 32407029 + Silent SNP A A T rs139769264 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr5:32407029A>T ENST00000265069.8 - 6 984 c.882T>A c.(880-882)gcT>gcA p.A294A NM_016107.3 NP_057191.2 Q96KR1 ZFR_HUMAN zinc finger RNA binding protein 294 Ala-rich. multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding p.A294A(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) cagcagcagcagctgctgctg 0.483000 4 148 0 0 1 0 0 SATB2 23314 broad.mit.edu 37 2 200137015 200137015 + Silent SNP G G A rs141424911 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:200137015G>A ENST00000443023.1 - 10 3409 c.1944C>T c.(1942-1944)tcC>tcT p.S648S SATB2_ENST00000417098.1_Silent_p.S707S|SATB2_ENST00000260926.5_Silent_p.S707S|SATB2_ENST00000457245.1_Silent_p.S707S|SATB2_ENST00000428695.1_Silent_p.S589S Q9UPW6 SATB2_HUMAN SATB homeobox 2 707 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 ACATCTCCTCGGAGCCTTCCT 0.537000 56 97 0 0 1 0 0 CDK11B 984 broad.mit.edu 37 1 1572077 1572077 + Missense_Mutation SNP C C A rs1059815 by1000genomes TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:1572077C>A ENST00000407249.3 - 18 1892 c.1893G>T c.(1891-1893)aaG>aaT p.K631N CDK11B_ENST00000317673.7_Missense_Mutation_p.K629N|CDK11B_ENST00000340677.5_Missense_Mutation_p.K618N|CDK11B_ENST00000341832.6_Missense_Mutation_p.K584N P21127 CD11B_HUMAN cyclin-dependent kinase 11B 641 Protein kinase. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 CGATTTCTGACTTCCCGGGGA 0.587000 18 50 2.37509e-13 2.54474e-13 1 1 0 KRT80 144501 broad.mit.edu 37 12 52567511 52567511 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:52567511G>A ENST00000313234.5 - 5 801 c.704C>T c.(703-705)tCg>tTg p.S235L KRT80_ENST00000394815.2_Missense_Mutation_p.S235L NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 235 Linker 12.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) GACGGTCACCGACACATCCTT 0.667000 21 76 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795745 69795745 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:69795745C>T ENST00000251566.4 - 6 1400 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q UGT2A3_ENST00000420231.2_Missense_Mutation_p.R168Q NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 457 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GAAGACTGCTCGATCTAGGGG 0.448000 6 218 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48391978 48391978 + Nonsense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:48391978C>T ENST00000435803.1 + 31 10606 c.10582C>T c.(10582-10584)Caa>Taa p.Q3528* NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3528 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TGCCCCACTGCAAGACATGAT 0.522000 13 47 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192882 132192882 + Missense_Mutation SNP C C G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:132192882C>G ENST00000359827.3 - 2 1533 c.571G>C c.(571-573)Ggg>Cgg p.G191R PLXNA4_ENST00000321063.4_Missense_Mutation_p.G191R|PLXNA4_ENST00000378539.5_Missense_Mutation_p.G191R|PLXNA4_ENST00000423507.2_Missense_Mutation_p.G191R Q9HCM2 PLXA4_HUMAN plexin A4 191 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCGGGCTTCCCATCCACTGCC 0.542000 9 104 0 0 1 0 0 IFNW1 3467 broad.mit.edu 37 9 21141434 21141434 + Nonsense_Mutation SNP T T A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr9:21141434T>A ENST00000380229.2 - 1 710 c.136A>T c.(136-138)Aga>Tga p.R46* NM_002177.1 NP_002168.1 P05000 IFNW1_HUMAN interferon, omega 1 46 cell cycle arrest|defense response|response to virus extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|lung(2)|ovary(1) 5 GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) GGGGAGATTCTCCTCATTTGG 0.517000 106 112 0 0 1 0 0 SSR2 6746 broad.mit.edu 37 1 155989934 155989934 + Silent SNP A A G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:155989934A>G ENST00000295702.4 - 2 96 c.25T>C c.(25-27)Ttg>Ctg p.L9L SSR2_ENST00000480567.1_Silent_p.L9L|SSR2_ENST00000496742.1_Silent_p.L9L|SSR2_ENST00000529008.1_Silent_p.L9L NM_003145.3 NP_003136.1 P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 9 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AATAGAGCCAACACCACAAAT 0.478000 24 39 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103481 53103481 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:53103481G>A ENST00000408890.4 + 1 133 c.117G>A c.(115-117)acG>acA p.T39T NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 39 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CACCCAGCACGCCCCAGACCA 0.687000 15 55 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57333292 57333292 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:57333292C>T ENST00000361249.3 + 2 184 c.88C>T c.(88-90)Cgg>Tgg p.R30W NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 30 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GAGAGTAAGACGGGCAGCTAC 0.453000 4 100 0 0 1 0 0 THNSL1 79896 broad.mit.edu 37 10 25312444 25312444 + Missense_Mutation SNP A A G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr10:25312444A>G ENST00000524413.1 + 3 639 c.292A>G c.(292-294)Agt>Ggt p.S98G THNSL1_ENST00000376356.4_Missense_Mutation_p.S98G Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 98 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) CTGGAATATGAGTGTGTCTGA 0.383000 4 117 0 0 1 0 0 FAM98A 25940 broad.mit.edu 37 2 33810288 33810288 + Missense_Mutation SNP C C A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:33810288C>A ENST00000238823.8 - 8 1252 c.1112G>T c.(1111-1113)cGa>cTa p.R371L FAM98A_ENST00000441530.2_Missense_Mutation_p.R176L|FAM98A_ENST00000403368.1_3'UTR Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 372 Gly-rich. NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) TCCTCCCCCTCGGCCACCATG 0.562000 38 95 1.57019e-19 1.72338e-19 1 1 0 PCDHA7 56141 broad.mit.edu 37 5 140216232 140216232 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr5:140216232G>A ENST00000525929.1 + 1 2264 c.2264G>A c.(2263-2265)cGg>cAg p.R755Q PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R755Q|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018910.2 NP_061733.1 p.R755Q(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.617000 22 47 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791962 41791962 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr8:41791962T>C ENST00000396930.3 - 18 4319 c.3776A>G c.(3775-3777)aAt>aGt p.N1259S KAT6A_ENST00000265713.2_Missense_Mutation_p.N1259S|KAT6A_ENST00000406337.1_Missense_Mutation_p.N1259S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1259 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTCAGGACTATTGCTGCTGTC 0.582000 7 27 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53104173 53104173 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:53104173C>T ENST00000408890.4 + 1 825 c.809C>T c.(808-810)gCg>gTg p.A270V NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 270 p.A270V(2) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TTCTGGGAGGCGACAACGCCT 0.632000 29 79 0 0 1 0 0 OR2D2 120776 broad.mit.edu 37 11 6913228 6913228 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:6913228G>A ENST00000299459.2 - 1 602 c.504C>T c.(502-504)taC>taT p.Y168Y NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TACTGCCTCGGTAGGGTAGCC 0.493000 55 31 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55748070 55748070 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:55748070G>A ENST00000412770.2 - 17 2495 c.1929C>T c.(1927-1929)ggC>ggT p.G643G PPP6R1_ENST00000587283.1_Silent_p.G643G NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 643 Glu-rich. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 CCTGCCAGGCGCCATCTTCTC 0.622000 3 32 0 0 1 0 0 OR5L2 26338 broad.mit.edu 37 11 55595554 55595554 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:55595554C>T ENST00000378397.1 + 1 860 c.860C>T c.(859-861)cCc>cTc p.P287L NM_001004739.1 NP_001004739.1 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, member 2 287 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) ATGCTGAACCCCCTGATCTAC 0.438000 HNSCC(27;0.073) 15 73 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228584661 228584661 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:228584661C>T ENST00000493030.2 - 4 4180 c.471G>A c.(469-471)ctG>ctA p.L157L TRIM11_ENST00000366699.3_Silent_p.L282L|TRIM11_ENST00000284551.6_Silent_p.L282L|RP11-245P10.8_ENST00000602963.1_RNA|TRIM11_ENST00000460651.1_5'UTR Q96F44 TRI11_HUMAN tripartite motif containing 11 282 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GAAACCTCCGCAGTGTCTCTA 0.632000 4 94 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79479040 79479040 + Silent SNP C C T rs139059365 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr17:79479040C>T ENST00000575842.1 - 2 678 c.252G>A c.(250-252)aaG>aaA p.K84K ACTG1_ENST00000575087.1_Silent_p.K84K|ACTG1_ENST00000573283.1_Silent_p.K84K|ACTG1_ENST00000331925.2_Silent_p.K84K P63261 ACTG_HUMAN actin, gamma 1 84 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) GGTGCCAGATCTTCTCCATGT 0.622000 88 64 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714163 70714163 + RNA SNP T T G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:70714163T>G ENST00000530196.1 - 0 355 NR_003951.1 ATGAACAACATGTTTCTGGTC 0.517000 6 130 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525491 248525491 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:248525491C>T ENST00000366475.1 + 1 609 c.609C>T c.(607-609)tcC>tcT p.S203S NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCCGTGGATCCCGGGAGATTC 0.498000 86 190 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856761 53856761 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:53856761T>C ENST00000458035.1 + 4 2950 c.2833T>C c.(2833-2835)Tgt>Cgt p.C945R ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 945 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C945R(1) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 ACCTTACAAGTGTAATGAATG 0.348000 4 59 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581207 82581207 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:82581207G>A ENST00000423517.2 - 5 9399 c.9062C>T c.(9061-9063)aCa>aTa p.T3021I PCLO_ENST00000333891.8_Missense_Mutation_p.T3021I NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2952 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATCTACTGCTGTGTCAGTTCC 0.398000 27 68 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39859410 39859410 + Splice_Site SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr6:39859410G>A ENST00000538976.1 + 19 2435 c.2252_splice c.e19-1 p.R751_splice RP11-61I13.3_ENST00000420293.1_RNA|RP11-61I13.3_ENST00000606829.1_RNA|DAAM2_ENST00000274867.4_Splice_Site_p.R751_splice|DAAM2_ENST00000398904.2_Splice_Site_p.R751_splice|RP11-61I13.3_ENST00000430595.1_RNA NM_015345.3 NP_056160.2 Q86T65 DAAM2_HUMAN dishevelled associated activator of morphogenesis 2 751 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) TTGTCTACAGGATTGACCACT 0.577000 6 18 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971088 21971088 + Missense_Mutation SNP G G T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr9:21971088G>T ENST00000579755.1 - 2 605 c.313C>A c.(313-315)Cct>Act p.P105T CDKN2A_ENST00000578845.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P105T|CDKN2A_ENST00000479692.2_Missense_Mutation_p.F39L|CDKN2A_ENST00000498124.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000497750.1_Missense_Mutation_p.F39L|CDKN2A_ENST00000579122.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.F90L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P146T|CDKN2A_ENST00000304494.5_Missense_Mutation_p.F90L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.F39L P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 Missing. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.F90F(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCGTGTCCAGGAAGCCCTCCC 0.751000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 19 22 4.96729e-08 5.23894e-08 1 1 0 PDE1C 5137 broad.mit.edu 37 7 31918738 31918738 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:31918738G>A ENST00000396184.3 - 5 500 c.296C>T c.(295-297)cCt>cTt p.P99L PDE1C_ENST00000396193.1_Missense_Mutation_p.P159L|PDE1C_ENST00000396191.1_Missense_Mutation_p.P99L|PDE1C_ENST00000321453.7_Missense_Mutation_p.P99L|PDE1C_ENST00000396182.2_Missense_Mutation_p.P99L NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 99 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GACCTCAGAAGGCACAGCATC 0.527000 17 87 0 0 1 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183053 102183053 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:102183053C>T ENST00000306176.1 + 7 867 c.767C>T c.(766-768)tCa>tTa p.S256L ZPLD1_ENST00000491959.1_Missense_Mutation_p.S240L|ZPLD1_ENST00000466937.1_Missense_Mutation_p.S240L NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 240 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ACTACCCCATCAGGAAACCCA 0.323000 47 117 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47853937 47853937 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:47853937C>T ENST00000507489.1 - 21 2620 c.2444G>A c.(2443-2445)cGt>cAt p.R815H NFXL1_ENST00000381538.3_Missense_Mutation_p.R815H NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 815 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.R815H(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 CTGATTTTCACGTACTTTGTT 0.358000 11 120 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431782 89431782 + RNA SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:89431782G>A ENST00000532352.1 + 0 2064 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 ATTCTTTAGAGACTCTGTATT 0.358000 12 35 0 0 1 0 0 PLTP 5360 broad.mit.edu 37 20 44538243 44538243 + Missense_Mutation SNP G G A rs138807551 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:44538243G>A ENST00000542937.1 - 4 991 c.457C>T c.(457-459)Cgg>Tgg p.R153W PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45W|PLTP_ENST00000372431.3_Missense_Mutation_p.R133W|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133W P55058 PLTP_HUMAN phospholipid transfer protein 133 cellular lipid metabolic process|lipid transport extracellular region lipid binding endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1) 21 Myeloproliferative disorder(115;0.0122) GCGGGATCCCGGGAGAGCTCC 0.597000 19 151 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16816136 16816136 + Missense_Mutation SNP A A T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:16816136A>T ENST00000355661.3 - 19 2654 c.2644T>A c.(2644-2646)Ttc>Atc p.F882I PLEKHA7_ENST00000531066.1_Missense_Mutation_p.F882I|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.F882I|PLEKHA7_ENST00000532079.1_Intron Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 882 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 AGCTGGGGGAAGAGTCGAACC 0.617000 11 141 0 0 1 0 0 HOXA5 3202 broad.mit.edu 37 7 27181546 27181546 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:27181546T>C ENST00000222726.3 - 2 781 c.721A>G c.(721-723)Atc>Gtc p.I241V HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA5_ENST00000520854.1_5'UTR NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 241 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 TGGAACCAGATTTTAATTTGT 0.493000 OREG0017911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 176 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42580325 42580325 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:42580325C>T ENST00000381668.5 - 12 1311 c.1080G>A c.(1078-1080)ttG>ttA p.L360L ATP8A1_ENST00000264449.10_Silent_p.L360L NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 360 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.L360F(2) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CTAATGTAACCAATAAGCTGA 0.358000 18 80 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52515327 52515327 + Missense_Mutation SNP C C A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr13:52515327C>A ENST00000242839.4 - 16 3602 c.3446G>T c.(3445-3447)gGa>gTa p.G1149V ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Missense_Mutation_p.G719V|ATP7B_ENST00000418097.2_Missense_Mutation_p.G1084V|ATP7B_ENST00000417240.2_Missense_Mutation_p.G360V|ATP7B_ENST00000400366.3_Missense_Mutation_p.G1038V|ATP7B_ENST00000448424.2_Missense_Mutation_p.G1071V|ATP7B_ENST00000344297.5_Missense_Mutation_p.G942V NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 1149 G -> A (in WD). ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) CTCACGGTTTCCAATCAGCAC 0.468000 Wilson disease 24 60 1.55469e-16 1.69261e-16 1 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142482229 142482229 + RNA SNP T T A rs145494190 by1000genomes TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:142482229T>A ENST00000603901.1 + 0 609 NR_001296.3 p.P203P(1) CTGGTGGCCCTGTGGTCTGCA 0.493000 4 70 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47776888 47776888 + Splice_Site SNP G G C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr21:47776888G>C ENST00000359568.5 + 13 2043 c.e13-1 PCNT_ENST00000480896.1_Splice_Site NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTTCCACACAGAGCTTCCCTG 0.607000 7 70 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19625862 19625862 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:19625862G>A ENST00000360913.3 - 1 976 c.375C>T c.(373-375)taC>taT p.Y125Y TSSK6_ENST00000585580.3_Silent_p.Y125Y Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 125 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GATCGTGCAGGTAGCGCACGG 0.692000 19 66 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64960317 64960317 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr10:64960317C>T ENST00000399262.2 - 11 5413 c.5195G>A c.(5194-5196)cGa>cAa p.R1732Q JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R1550Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R1513Q NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1732 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TCTACATTCTCGACACTTTTG 0.383000 35 70 0 0 1 0 0 C3orf55 152078 broad.mit.edu 37 3 157289047 157289047 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:157289047C>T ENST00000449199.2 + 3 306 c.165C>T c.(163-165)gaC>gaT p.D55D C3orf55_ENST00000459838.1_Silent_p.D55D|C3orf55_ENST00000426338.2_Silent_p.D55D|C3orf55_ENST00000312275.5_Silent_p.D55D|C3orf55_ENST00000461040.1_Intron NM_001130002.2 NP_001123474.1 A1A4F0 CC055_HUMAN chromosome 3 open reading frame 55 55 breast(1)|lung(1) 2 Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037) TAGGTGGAGACCTGACAAATT 0.428000 8 39 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713760 70713760 + RNA SNP A A C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:70713760A>C ENST00000530196.1 - 0 758 NR_003951.1 GAAACCATGCATGAGTCCACC 0.438000 19 108 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39797211 39797211 + Missense_Mutation SNP A A G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:39797211A>G ENST00000564288.1 + 37 5728 c.4951A>G c.(4951-4953)Atc>Gtc p.I1651V MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.I91V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.I1688V|MACF1_ENST00000372915.3_Missense_Mutation_p.I1656V Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 1656 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TGGACTGAAAATCTTAGAAGC 0.458000 34 121 0 0 1 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107113751 107113751 + RNA SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:107113751T>C ENST00000454421.2 - 0 420 TCTCGCACAGTAATACACAGC 0.537000 48 270 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656194 40656194 + Silent SNP G G T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:40656194G>T ENST00000406785.1 - 2 1416 c.1227C>A c.(1225-1227)atC>atA p.I409I SLC8A1_ENST00000406391.2_Silent_p.I409I|SLC8A1_ENST00000405901.3_Silent_p.I409I|SLC8A1_ENST00000405269.1_Silent_p.I409I|SLC8A1_ENST00000403092.1_Silent_p.I409I|SLC8A1_ENST00000332839.4_Silent_p.I409I|SLC8A1_ENST00000542756.1_Silent_p.I409I|SLC8A1_ENST00000402441.1_Silent_p.I409I|SLC8A1_ENST00000408028.2_Silent_p.I409I|SLC8A1_ENST00000542024.1_Silent_p.I409I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 409 Calx-beta 1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTTCAAAGAAGATCTTACTAA 0.458000 24 192 1.42536e-11 1.51514e-11 1 1 0 EYA4 2070 broad.mit.edu 37 6 133769265 133769265 + Silent SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr6:133769265T>C ENST00000367895.5 + 5 689 c.225T>C c.(223-225)gtT>gtC p.V75V EYA4_ENST00000431403.2_Silent_p.V75V|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000531901.1_Silent_p.V75V|EYA4_ENST00000355286.6_Intron|EYA4_ENST00000452339.2_Intron|EYA4_ENST00000525849.1_Intron|EYA4_ENST00000355167.3_Silent_p.V75V NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 75 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ACATGACTGTTTTAAACACAG 0.438000 19 63 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105609257 105609257 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:105609257C>T ENST00000331782.3 - 26 3895 c.3492G>A c.(3490-3492)gcG>gcA p.A1164A JAG2_ENST00000347004.2_Silent_p.A1126A NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 1164 auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) gcccgggcagcgcctcgtccg 0.706000 12 44 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200869306 200869306 + Silent SNP C C T rs34596202 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:200869306C>T ENST00000367342.4 + 4 710 c.510C>T c.(508-510)atC>atT p.I170I C1orf106_ENST00000413687.2_Silent_p.I85I NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 170 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCCGCAGGATCGGAGCGGCTT 0.607000 18 47 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23316091 23316091 + RNA SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr15:23316091G>A ENST00000560464.1 - 0 2848 ATCTCAGCATGAACTCCAGCA 0.453000 21 120 0 0 1 0 0 LIG1 3978 broad.mit.edu 37 19 48643366 48643366 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:48643366G>A ENST00000263274.7 - 12 1368 c.949C>T c.(949-951)Cgc>Tgc p.R317C LIG1_ENST00000427526.2_Missense_Mutation_p.R286C|LIG1_ENST00000536218.1_Missense_Mutation_p.R249C NM_000234.1 NP_000225.1 P18858 DNLI1_HUMAN ligase I, DNA, ATP-dependent 317 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1) 44 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) ACCACGGAGCGCAGCAAGTTG 0.657000 Nucleotide excision repair (NER) 31 29 0 0 1 0 0 MOSPD3 64598 broad.mit.edu 37 7 100211107 100211107 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:100211107C>T ENST00000393950.2 + 3 571 c.289C>T c.(289-291)Cgc>Tgc p.R97C MOSPD3_ENST00000424091.2_Intron|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R97C|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R97C NM_023948.4 NP_076438.1 O75425 MSPD3_HUMAN motile sperm domain containing 3 97 MSP. integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) CAGTGTGATTCGCCATGTGGC 0.582000 12 58 0 0 1 0 0 PDCD10 11235 broad.mit.edu 37 3 167422683 167422683 + Splice_Site SNP G G C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:167422683G>C ENST00000392750.2 - 4 514 c.96_splice c.e4-1 p.L33_splice PDCD10_ENST00000487947.2_Splice_Site_p.L33_splice|PDCD10_ENST00000497056.2_Splice_Site_p.L33_splice|PDCD10_ENST00000461494.1_Splice_Site_p.L33_splice|PDCD10_ENST00000473645.2_Splice_Site_p.L33_splice|PDCD10_ENST00000471885.1_Splice_Site_p.L33_splice|PDCD10_ENST00000492396.1_5'UTR|PDCD10_ENST00000470131.1_Splice_Site_p.L33_splice NM_007217.3 NP_009148.2 Q9BUL8 PDC10_HUMAN programmed cell death 10 33 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2) 12 ACTCGTTCTAGCTGCaataaa 0.333000 13 62 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417689 25417689 + RNA SNP C C G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr15:25417689C>G ENST00000549301.1 + 0 467 SNHG14_ENST00000553149.1_RNA TGAAGCTCAGCCCTCCCTGGC 0.637000 5 77 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111988789 111988789 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:111988789G>A ENST00000305815.5 - 7 1001 c.749C>T c.(748-750)tCa>tTa p.S250L SLC9C1_ENST00000487372.1_Missense_Mutation_p.S250L NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 250 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATACAGAATTGAAAAGATGAG 0.284000 52 142 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41009498 41009498 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr5:41009498T>C ENST00000399564.4 - 32 3754 c.3304A>G c.(3304-3306)Aca>Gca p.T1102A MROH2B_ENST00000506092.2_Missense_Mutation_p.T657A NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TTCCACAATGTCTTTGTGTCC 0.478000 32 274 0 0 1 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157128 26157128 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chrX:26157128T>C ENST00000325250.1 + 2 213 c.26T>C c.(25-27)cTc>cCc p.L9P NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 9 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 AAGAGTAAGCTCCGTGCCCGT 0.542000 3 24 0 0 1 0 0 ATXN2L 11273 broad.mit.edu 37 16 28848065 28848065 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr16:28848065C>T ENST00000340394.8 + 23 3314 c.3102C>T c.(3100-3102)tcC>tcT p.S1034S ATXN2L_ENST00000564304.1_Silent_p.S1058S|ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000382686.4_Intron|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000336783.4_3'UTR|ATXN2L_ENST00000570200.1_Silent_p.S1052S|ATXN2L_ENST00000325215.6_Intron NM_148415.2|NM_148416.2 NP_680781.1|NP_680782.1 Q8WWM7 ATX2L_HUMAN ataxin 2-like 1032 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CTCATCCCTCCCAGCAGCTCC 0.587000 19 87 0 0 1 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981080 61981080 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:61981080C>T ENST00000370263.4 - 5 1904 c.1683G>A c.(1681-1683)tcG>tcA p.S561S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 561 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) TCAGGGCCGGCGACAGGGGCA 0.657000 14 136 0 0 1 0 0 TMOD4 29765 broad.mit.edu 37 1 151146953 151146953 + Missense_Mutation SNP C C A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:151146953C>A ENST00000416280.2 - 3 293 c.194G>T c.(193-195)cGa>cTa p.R65L Q9NZQ9 TMOD4_HUMAN tropomodulin 4 (muscle) 117 muscle contraction cytoplasm|cytoskeleton actin binding|tropomyosin binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 7 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AAGGGCCTCTCGGTCCAGTGG 0.547000 58 221 5.82089e-37 6.49438e-37 1 1 0 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr17:7578275G>A ENST00000420246.2 - 6 706 c.574C>T c.(574-576)Cag>Tag p.Q192* TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 192 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) 37 32 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795744 69795744 + Silent SNP T T C rs112675774 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:69795744T>C ENST00000251566.4 - 6 1401 c.1371A>G c.(1369-1371)cgA>cgG p.R457R UGT2A3_ENST00000420231.2_Silent_p.R168R NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 457 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGAAGACTGCTCGATCTAGGG 0.453000 6 217 0 0 1 0 0 ZBTB11 27107 broad.mit.edu 37 3 101395454 101395454 + Nonsense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:101395454C>T ENST00000312938.4 - 1 885 c.305G>A c.(304-306)tGg>tAg p.W102* ZBTB11-AS1_ENST00000536865.1_5'UTR|ZBTB11_ENST00000461821.1_Nonsense_Mutation_p.W102* NM_014415.3 NP_055230.2 O95625 ZBT11_HUMAN zinc finger and BTB domain containing 11 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CTCACCTCGCCACCAGTACGT 0.697000 9 12 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115398159 115398159 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:115398159C>T ENST00000369522.3 + 2 314 c.74C>T c.(73-75)cCt>cTt p.P25L SYCP1_ENST00000369518.1_Missense_Mutation_p.P25L NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 25 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGTGAAACCTCAGACCCTG 0.418000 12 21 0 0 1 0 0 SETD7 80854 broad.mit.edu 37 4 140454503 140454503 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:140454503T>C ENST00000274031.3 - 3 824 c.188A>G c.(187-189)tAt>tGt p.Y63C SETD7_ENST00000406354.1_Missense_Mutation_p.M46V|SETD7_ENST00000506866.2_Missense_Mutation_p.Y63C|SETD7_ENST00000404104.3_Missense_Mutation_p.Y63C NM_030648.2 NP_085151.1 Q8WTS6 SETD7_HUMAN SET domain containing (lysine methyltransferase) 7 63 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 8 all_hematologic(180;0.156) ATCATCCACATAATACCCCTC 0.498000 29 20 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2593924 2593924 + Missense_Mutation SNP C C T rs138165699 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:2593924C>T ENST00000358864.1 + 14 1843 c.1828C>T c.(1828-1830)Cgg>Tgg p.R610W TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 610 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTGTTTTGTGCGGTTCATGAA 0.498000 4 127 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060899 12060899 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:12060899C>T ENST00000482090.1 + 3 2424 c.2006C>T c.(2005-2007)tCt>tTt p.S669F CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S687F|ZNF763_ENST00000590798.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 687 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GGATTCACATCTGCCAAGATT 0.363000 22 79 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102586776 102586776 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr10:102586776C>T ENST00000370296.2 + 11 1734 c.1184C>T c.(1183-1185)tCt>tTt p.S395F PAX2_ENST00000428433.1_Silent_p.F367F|PAX2_ENST00000361791.3_Missense_Mutation_p.S372F|PAX2_ENST00000355243.3_Silent_p.F344F|PAX2_ENST00000556085.1_Silent_p.F343F Q02962 PAX2_HUMAN paired box 2 0 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) GGAGCGAGTTCTCCGGCAACC 0.677000 16 39 0 0 1 0 0 TMEM183A 92703 broad.mit.edu 37 1 202977833 202977833 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:202977833G>A ENST00000367242.3 + 3 342 c.262G>A c.(262-264)Ggt>Agt p.G88S TMEM183A_ENST00000468449.1_3'UTR NM_001079809.1|NM_138391.4 NP_001073277.1|NP_612400.3 transmembrane protein 183A endometrium(1)|large_intestine(2)|lung(1)|skin(3) 7 BRCA - Breast invasive adenocarcinoma(75;0.18) TTCTGGGGCTGGTGAGCCCTG 0.473000 9 96 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427983 49427983 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:49427983C>T ENST00000301067.7 - 38 10606 c.10607G>A c.(10606-10608)cGc>cAc p.R3536H NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCGGGACTTGCGGTGTACACC 0.557000 5 171 0 0 1 0 0 ESCO1 114799 broad.mit.edu 37 18 19153390 19153390 + Missense_Mutation SNP A A T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr18:19153390A>T ENST00000269214.5 - 4 2352 c.1415T>A c.(1414-1416)aTt>aAt p.I472N NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 472 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 GGTTTTATTAATTTCTACTGT 0.318000 62 130 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91456856 91456856 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr15:91456856C>T ENST00000360468.3 + 18 2749 c.2731C>T c.(2731-2733)Cgg>Tgg p.R911W MAN2A2_ENST00000430376.2_Missense_Mutation_p.R101W|MAN2A2_ENST00000431652.2_Missense_Mutation_p.R419W|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R911W NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 911 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GCAGCCCCGACGGTATCTGAA 0.627000 8 16 0 0 1 0 0 CALB1 793 broad.mit.edu 37 8 91094274 91094274 + Missense_Mutation SNP C C A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr8:91094274C>A ENST00000265431.3 - 2 317 c.136G>T c.(136-138)Gcg>Tcg p.A46S NM_004929.2 NP_004920.1 P05937 CALB1_HUMAN calbindin 1, 28kDa 46 EF-hand 1. nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) TTCTTTCGCGCCTGCTGGAGC 0.443000 10 317 5.50884e-06 5.72072e-06 1 1 0 ASPSCR1 79058 broad.mit.edu 37 17 79973059 79973059 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr17:79973059G>A ENST00000306729.7 + 13 1559 c.1462G>A c.(1462-1464)Gtg>Atg p.V488M ASPSCR1_ENST00000580534.1_Intron|ASPSCR1_ENST00000306739.4_Intron NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 488 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) TGGAGGCGACGTGGACTCTGG 0.627000 T TFE3 alveolar soft part sarcoma 20 93 0 0 1 0 0 LHFPL1 340596 broad.mit.edu 37 X 111914239 111914239 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chrX:111914239C>T ENST00000371968.3 - 2 619 c.380G>A c.(379-381)gGa>gAa p.G127E LHFPL1_ENST00000536453.1_Missense_Mutation_p.G127E|LHFPL1_ENST00000478229.1_Intron NM_178175.3 NP_835469.1 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 127 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6) 13 AGTCTTACCTCCAACAAACTG 0.572000 7 54 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51175091 51175091 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr16:51175091C>T ENST00000440970.1 - 2 1182 c.751G>A c.(751-753)Gtt>Att p.V251I SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.V348I NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 348 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GGGGTGGTAACTGCCGCTGCC 0.532000 29 130 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90168949 90168949 + Silent SNP C C A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:90168949C>A ENST00000333209.3 - 2 2831 c.2313G>T c.(2311-2313)ccG>ccT p.P771P NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 771 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) ACACAGAAGACGGGGCAGGAC 0.453000 6 134 0.000157383 0.000162189 1 1 0 CHPT1 56994 broad.mit.edu 37 12 102117511 102117511 + Missense_Mutation SNP G G T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:102117511G>T ENST00000549872.1 + 7 1141 c.951G>T c.(949-951)atG>atT p.M317I CHPT1_ENST00000229266.3_Missense_Mutation_p.M317I Q8WUD6 CHPT1_HUMAN choline phosphotransferase 1 317 platelet activating factor biosynthetic process|regulation of cell growth Golgi membrane|integral to membrane|microsome diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 TAGCTCACATGACCAAAAGTG 0.274000 4 37 0.00024832 0.000253964 1 1 0 BPIFB2 80341 broad.mit.edu 37 20 31607497 31607497 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:31607497G>A ENST00000170150.3 + 11 1216 c.1021G>A c.(1021-1023)Gtg>Atg p.V341M NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 341 extracellular region lipid binding GCAGCCCTTCGTGGAGGTCCT 0.642000 8 38 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37418911 37418911 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr10:37418911C>T ENST00000374660.1 + 2 243 c.144C>T c.(142-144)ggC>ggT p.G48G ANKRD30A_ENST00000602533.1_Silent_p.G48G|ANKRD30A_ENST00000361713.1_Silent_p.G48G Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 104 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 TCCTTGATGGCGAACACAGGA 0.418000 13 54 0 0 1 0 0 CHMP3 51652 broad.mit.edu 37 2 86756512 86756512 + Missense_Mutation SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:86756512T>C ENST00000263856.4 - 3 243 c.115A>G c.(115-117)Aga>Gga p.R39G RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.R68G|CHMP3_ENST00000439940.2_Missense_Mutation_p.R68G|CHMP3_ENST00000409727.1_Missense_Mutation_p.R39G|CHMP3_ENST00000409225.2_5'UTR NM_001193517.1|NM_016079.3 NP_001180446.1|NP_057163.1 charged multivesicular body protein 3 TCTTCTTCTCTTTGGATATCT 0.373000 24 54 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 5 92 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 15995643 15995643 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr4:15995643G>A ENST00000505450.1 - 15 2319 c.1707C>T c.(1705-1707)agC>agT p.S569S PROM1_ENST00000539194.1_Silent_p.S578S|PROM1_ENST00000543373.1_Silent_p.S569S|PROM1_ENST00000508167.1_Silent_p.S569S|PROM1_ENST00000510224.1_Silent_p.S578S|PROM1_ENST00000540805.1_Silent_p.S578S|PROM1_ENST00000447510.2_Silent_p.S578S NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 578 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TGATATTGAAGCTGTTCTGCA 0.398000 4 121 0 0 1 0 0 SYTL5 94122 broad.mit.edu 37 X 37965888 37965888 + Missense_Mutation SNP G G C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chrX:37965888G>C ENST00000357972.5 + 11 1744 c.1198G>C c.(1198-1200)Gac>Cac p.D400H SYTL5_ENST00000456733.2_Missense_Mutation_p.D422H|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.D400H Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 400 intracellular protein transport membrane metal ion binding|Rab GTPase binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TGAAACGGGAGACTATGGCAA 0.413000 27 26 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80085145 80085145 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:80085145C>T ENST00000466387.1 + 8 1029 c.305C>T c.(304-306)aCg>aTg p.T102M CTNNA2_ENST00000496558.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T136M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T102M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T102M P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 102 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CCAGGTGAGACGATGCGGATC 0.547000 68 120 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135431039 135431039 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chrX:135431039C>T ENST00000394143.1 + 6 5465 c.5174C>T c.(5173-5175)tCc>tTc p.S1725F GPR112_ENST00000412101.1_Missense_Mutation_p.S1520F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1520F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1725F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1662F NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1725 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACTAACAGGTCCCTATCTACT 0.418000 42 90 0 0 1 0 0 ABCB11 8647 broad.mit.edu 37 2 169801270 169801270 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:169801270C>T ENST00000263817.6 - 21 2579 c.2455G>A c.(2455-2457)Gcc>Acc p.A819T NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 819 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTAGCAAAGGCATATCCCTAA 0.363000 5 72 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142482242 142482242 + RNA SNP G G A rs143538588 by1000genomes TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:142482242G>A ENST00000603901.1 + 0 622 NR_001296.3 GGTCTGCAATGGACAGCTTCA 0.493000 4 69 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130275912 130275912 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:130275912C>T ENST00000257359.6 - 9 2917 c.2211G>A c.(2209-2211)acG>acA p.T737T NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 737 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCCCATCAGCCGTCTTCAGCG 0.572000 33 139 0 0 1 0 0 MMS22L 253714 broad.mit.edu 37 6 97621033 97621033 + Silent SNP G G A rs139062728 by1000genomes TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr6:97621033G>A ENST00000275053.4 - 19 3010 c.2745C>T c.(2743-2745)tcC>tcT p.S915S MMS22L_ENST00000369251.2_Silent_p.S875S NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 915 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGTATTCCAAGGACTTTGTGA 0.368000 20 76 0 0 1 0 0 PDK4 5166 broad.mit.edu 37 7 95221315 95221315 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr7:95221315G>A ENST00000005178.5 - 6 876 c.679C>T c.(679-681)Ctt>Ttt p.L227F NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 227 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ACTTGTGTAAGCTTTAATTCT 0.289000 9 171 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23905610 23905610 + Missense_Mutation SNP T T A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr13:23905610T>A ENST00000382298.3 - 10 12993 c.12405A>T c.(12403-12405)aaA>aaT p.K4135N SACS_ENST00000402364.1_Missense_Mutation_p.K3385N|SACS_ENST00000382292.3_Missense_Mutation_p.K4135N NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4135 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AACTGTCAAGTTTCTCACCAA 0.388000 17 166 0 0 1 0 0 APOL4 80832 broad.mit.edu 37 22 36587488 36587488 + Missense_Mutation SNP A A G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr22:36587488A>G ENST00000332987.1 - 7 1101 c.679T>C c.(679-681)Tct>Cct p.S227P APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000479929.1_5'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Missense_Mutation_p.S230P Q9BPW4 APOL4_HUMAN apolipoprotein L, 4 231 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding lung(1) 1 AGTGCAAAAGAAAGCACATTG 0.473000 28 86 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511638 195511638 + Silent SNP G G C rs71634713 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:195511638G>C ENST00000463781.3 - 2 7272 c.6813C>G c.(6811-6813)acC>acG p.T2271T MUC4_ENST00000475231.1_Silent_p.T2271T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 40 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) CAGGAAGAGAGGTGGCGTGAC 0.592000 4 5 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27369064 27369064 + Silent SNP C C T rs141811950 by1000genomes TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr6:27369064C>T ENST00000244576.4 + 3 1460 c.915C>T c.(913-915)caC>caT p.H305H NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 AAAAGCCTCACGAGTGTAGAG 0.478000 20 57 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103471441 103471441 + Missense_Mutation SNP G G C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:103471441G>C ENST00000358392.2 - 18 2151 c.1834C>G c.(1834-1836)Cga>Gga p.R612G COL11A1_ENST00000512756.1_Missense_Mutation_p.R484G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R600G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R561G|COL11A1_ENST00000461720.1_5'UTR NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 600 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCAAACCCTCGATCTCCCTGT 0.373000 33 120 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206646649 206646649 + Missense_Mutation SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:206646649C>T ENST00000367120.3 + 3 452 c.79C>T c.(79-81)Cgc>Tgc p.R27C IKBKE_ENST00000537984.1_Intron|IKBKE_ENST00000462698.1_Intron NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 27 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GTACAAGGCCCGCAACAAGGT 0.637000 5 15 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237865278 237865278 + Splice_Site SNP T T C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr1:237865278T>C ENST00000366574.2 + 66 9685 c.9367_splice c.e66-1 p.L3123_splice RYR2_ENST00000360064.6_Splice_Site_p.L3121_splice|RYR2_ENST00000542537.1_Splice_Site_p.L3107_splice NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3123 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTTCCTTAGTGGAAGATGTC 0.348000 7 27 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185190929 185190929 + Missense_Mutation SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:185190929G>A ENST00000265026.3 + 11 2144 c.1810G>A c.(1810-1812)Gca>Aca p.A604T MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 604 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) TGACTTTGCCGCAATCTTGAA 0.507000 6 618 0 0 1 0 0 FZD10 11211 broad.mit.edu 37 12 130649199 130649199 + Missense_Mutation SNP A A G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:130649199A>G ENST00000229030.4 + 1 2196 c.1712A>G c.(1711-1713)tAt>tGt p.Y571C FZD10_ENST00000539839.1_3'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 571 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CACGGGAAATATGAGATCCCT 0.557000 9 39 0 0 1 0 0 CASKIN1 57524 broad.mit.edu 37 16 2237366 2237366 + Silent SNP C C T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr16:2237366C>T ENST00000343516.6 - 7 806 c.714G>A c.(712-714)cgG>cgA p.R238R NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 238 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 CCAGCAGCAGCCGCACCACCT 0.652000 52 92 0 0 1 0 0 ZNF845 91664 broad.mit.edu 37 19 53856730 53856730 + Silent SNP G G A TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr19:53856730G>A ENST00000458035.1 + 4 2919 c.2802G>A c.(2800-2802)aaG>aaA p.K934K ZNF845_ENST00000595091.1_Silent_p.K934K NM_138374.1 NP_612383.1 Q96IR2 ZN845_HUMAN zinc finger protein 845 934 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K934K(3) endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 26 TAATTCATAAGACAATTCATA 0.368000 4 56 0 0 1 0 0 IGHV1-58 28464 broad.mit.edu 37 14 107078787 107078787 + RNA SNP G G T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:107078787G>T ENST00000390628.2 - 0 82 ACCAAGAAGAGGACCCTCCAA 0.542000 20 110 6.33239e-15 6.83898e-15 1 1 0 MGAT5 4249 broad.mit.edu 37 2 135095943 135095943 + Missense_Mutation SNP C C G TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:135095943C>G ENST00000409645.1 + 7 1011 c.759C>G c.(757-759)atC>atG p.I253M MGAT5_ENST00000281923.2_Missense_Mutation_p.I253M Q09328 MGT5A_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase 253 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3) 36 BRCA - Breast invasive adenocarcinoma(221;0.0964) TCCAAGCAATCAAGTCCCTGG 0.403000 28 102 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384456 25384457 + In_Frame_Ins INS - - GCCGCTGCT rs10654394 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr2:25384456_25384457insGCCGCTGCT ENST00000405623.1 - 3 752_753 c.297_298insAGCAGCGGC c.(295-300)ggcagg>ggAGCAGCGGCcagg p.99_100GR>GAAAR POMC_ENST00000380794.1_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000264708.3_In_Frame_Ins_p.99_100GR>GAAAR|POMC_ENST00000395826.2_In_Frame_Ins_p.99_100GR>GAAAR P01189 COLI_HUMAN proopiomelanocortin 99 Missing. cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) TTCTGCCCTGCgccgctgctgc 0.728 5 7 --- --- --- --- FETUB 26998 broad.mit.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr3:186362544delA ENST00000265029.3 + 4 530 c.429delA c.(427-429)tcfs p.S143fs FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs 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 8 202 --- --- --- --- IRX2 153572 broad.mit.edu 37 5 2749007 2749018 + In_Frame_Del DEL TCCTCGTCGTCG TCCTCGTCGTCG - rs111614286 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr5:2749007_2749018delTCCTCGTCGTCG ENST00000382611.6 - 3 1052_1063 c.804_815delCGACGACGAGGA c.(802-816)gag>ga p.DDDEE268del IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_In_Frame_Del_p.DDDEE268del NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 268 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CCGCTCGCCCTCCTCGTCGTCGTCCTCGTCGT 0.736 13 106 --- --- --- --- GABRR1 2569 broad.mit.edu 37 6 89891719 89891721 + In_Frame_Del DEL AAG AAG - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr6:89891719_89891721delAAG ENST00000435811.1 - 7 1255_1257 c.801_803delCTT c.(799-804)ttg>tt p.FL267del GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del|GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 284 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AGTTTGGAGCAAGAAGAAGAAGA 0.522 7 161 --- --- --- --- GRID1 2894 broad.mit.edu 37 10 87373264 87373265 + Frame_Shift_Ins INS - - T TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr10:87373264_87373265insT ENST00000327946.7 - 15 2585_2586 c.2500_2501insA c.(2500-2502)cttfs p.L834fs GRID1_ENST00000536331.1_Frame_Shift_Ins_p.L405fs NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 834 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GATGCAGAAGACCCCGGCGAAG 0.658 Multiple Myeloma(13;0.14) 17 69 --- --- --- --- APBB1 322 broad.mit.edu 37 11 6432090 6432092 + In_Frame_Del DEL TCC TCC - rs145320037 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr11:6432090_6432092delTCC ENST00000389906.2 - 2 585_587 c.486_488delGGA c.(484-489)gat>ga p.ED162del APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_In_Frame_Del_p.ED162del|APBB1_ENST00000299402.6_In_Frame_Del_p.ED162del NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 162 Glu-rich. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding p.E162D(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) atcatcatcatcctcctcctcct 0.635 7 58 --- --- --- --- PIK3C2G 5288 broad.mit.edu 37 12 18699269 18699269 + Frame_Shift_Del DEL G G - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr12:18699269delG ENST00000433979.1 + 25 3486 c.3370delG c.(3370-3372)gafs p.G1124fs PIK3C2G_ENST00000266497.5_Frame_Shift_Del_p.G1124fs|PIK3C2G_ENST00000538779.1_Frame_Shift_Del_p.G1165fs NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1124 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GCTGTATGCAGGACTGCCTGA 0.378 19 9 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41704634 41704636 + In_Frame_Del DEL CTA CTA - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr13:41704634_41704636delCTA ENST00000379485.1 - 1 2246_2248 c.2012_2014delTAG c.(2011-2016)gcg>g p.VA671del KBTBD6_ENST00000499385.2_In_Frame_Del_p.VA605del NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 671 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) CACTGAGGCGCTACACGCACCCA 0.394 19 44 --- --- --- --- TPTE2P2 644623 broad.mit.edu 37 13 52803642 52803643 + RNA DEL TT TT - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr13:52803642_52803643delTT ENST00000451298.1 - 0 938 RP11-64P12.8_ENST00000606031.1_RNA CAGTTTTCCCTTTTTTTTTTTT 0.332 2 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 5 --- --- --- --- IRF2BPL 64207 broad.mit.edu 37 14 77493648 77493650 + In_Frame_Del DEL GCG GCG - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr14:77493648_77493650delGCG ENST00000238647.3 - 1 1384_1386 c.486_488delCGC c.(484-489)gct>gc p.AA162del NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 162 Poly-Ala. nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 TTCCACCgcagcggcggcggcgg 0.749 6 3 --- --- --- --- PPL 5493 broad.mit.edu 37 16 4954018 4954019 + Frame_Shift_Ins INS - - C TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr16:4954018_4954019insC ENST00000345988.2 - 3 274_275 c.185_186insG c.(184-186)gcgfs p.A62fs PPL_ENST00000590782.2_Frame_Shift_Ins_p.A62fs NM_002705.4 NP_002696.3 O60437 PEPL_HUMAN periplakin 62 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CAGGCTGCCGACCCTCCTGCAG 0.619 20 32 --- --- --- --- GFRA4 64096 broad.mit.edu 37 20 3641501 3641501 + Frame_Shift_Del DEL G G - TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:3641501delG ENST00000290417.2 - 3 402 c.403delC c.(403-405)tgfs p.L135fs GFRA4_ENST00000319242.3_Frame_Shift_Del_p.P161fs NM_022139.3|NM_145762.2 NP_071422.1|NP_665705.1 Q9GZZ7 GFRA4_HUMAN GDNF family receptor alpha 4 135 anchored to membrane|extracellular region|plasma membrane receptor activity large_intestine(1)|lung(2) 3 TGAAAGGCCAGGAGGCGAGGC 0.801 2 4 --- --- --- --- NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs140426729 byFrequency TCGA-IQ-A6SH-01A-12D-A34J-08 TCGA-IQ-A6SH-10A-01D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0a20796c-e49a-4f29-9c07-c9bea6207383 17f81a2e-2b6c-418f-a3d7-ca63149209a7 g.chr20:33330968_33330970delTGC ENST00000374796.2 - 12 5660_5662 c.3090_3092delGCA c.(3088-3093)caa>ca p.QQ1030del NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030 CREBBP-binding region.|Gln-rich.|NCOA1-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 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 CATCATTtgttgctgctgctgct 0.576 7 198 --- --- --- ---