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 ADCY5 111 broad.mit.edu 37 3 123010222 123010222 + Splice_Site SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:123010222G>T ENST00000462833.1 - 18 4277 c.3063_splice c.e18-1 p.A1022_splice ADCY5_ENST00000309879.5_Splice_Site_p.A672_splice|ADCY5_ENST00000491190.1_Splice_Site_p.A680_splice NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1022 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CTCCTCTGTGGCCTGAGAGAA 0.607000 5 35 0.0215528 0.0231692 0.021553 1 0 KIAA1551 55196 broad.mit.edu 37 12 32134631 32134631 + Nonsense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:32134631C>T ENST00000312561.4 + 4 1156 c.742C>T c.(742-744)Cag>Tag p.Q248* KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 TAAAAATAGTCAGCTTCTAAA 0.393000 6 60 0 0 0.001984 0 0 KCNB2 9312 broad.mit.edu 37 8 73848226 73848226 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr8:73848226C>A ENST00000523207.1 + 3 1224 c.636C>A c.(634-636)ctC>ctA p.L212L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 212 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTTTGTCTCTCAATACGCTGC 0.473000 62 178 6.5469e-37 1.13744e-36 0.014410 1 0 URGCP 55665 broad.mit.edu 37 7 43917298 43917298 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:43917298C>A ENST00000336086.6 - 4 3871 c.1635G>T c.(1633-1635)acG>acT p.T545T URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Silent_p.T545T|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000443736.1_Silent_p.T545T|URGCP_ENST00000402306.3_Silent_p.T579T|URGCP_ENST00000453200.1_Silent_p.T588T|URGCP_ENST00000223341.7_Silent_p.T545T Q8TCY9 URGCP_HUMAN upregulator of cell proliferation 588 cell cycle centrosome|nucleus GTP binding breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GGGTGAGAAGCGTCTCCGGAG 0.647000 12 67 0.00185496 0.00208531 0.016723 1 0 PTPRM 5797 broad.mit.edu 37 18 8384599 8384599 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:8384599A>T ENST00000332175.8 + 28 4957 c.3920A>T c.(3919-3921)cAc>cTc p.H1307L PTPRM_ENST00000400060.4_Missense_Mutation_p.H1321L|PTPRM_ENST00000400053.4_Missense_Mutation_p.H1245L|PTPRM_ENST00000444013.1_Missense_Mutation_p.H1094L|PTPRM_ENST00000580170.1_Missense_Mutation_p.H1320L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 1307 Tyrosine-protein phosphatase 2. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTACACAGACACGGCCCCATC 0.453000 19 87 0 0 0.014323 0 0 TRAK1 22906 broad.mit.edu 37 3 42201878 42201878 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:42201878G>A ENST00000396175.1 + 1 218 c.25G>A c.(25-27)Gaa>Aaa p.E9K TRAK1_ENST00000327628.5_Intron|TRAK1_ENST00000449246.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000341421.3_Missense_Mutation_p.E9K Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 0 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CAAGGGCGGGGAAGAAGAATG 0.552000 10 145 0 0 0.010729 0 0 PLK2 10769 broad.mit.edu 37 5 57750850 57750850 + Splice_Site SNP T T C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:57750850T>C ENST00000274289.3 - 13 2056 c.e13-2 PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) ATCTCCACCCTGGAAGAGATT 0.403000 16 103 0 0 0.004990 0 0 CHD8 57680 broad.mit.edu 37 14 21873479 21873479 + Nonsense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr14:21873479C>A ENST00000399982.2 - 15 3260 c.3196G>T c.(3196-3198)Gag>Tag p.E1066* CHD8_ENST00000557364.1_Nonsense_Mutation_p.E1066*|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Nonsense_Mutation_p.E787* NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1066 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AAATTCTTCTCCAAAATAGCC 0.408000 5 14 8.12818e-05 9.77656e-05 0.001984 1 0 SFSWAP 6433 broad.mit.edu 37 12 132281798 132281798 + Silent SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:132281798A>G ENST00000261674.4 + 16 2751 c.2610A>G c.(2608-2610)tcA>tcG p.S870S SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_Silent_p.S922S NM_004592.3 NP_004583.2 Q12872 SFSWA_HUMAN splicing factor, suppressor of white-apricot homolog (Drosophila) 870 Arg/Ser-rich (RS domain). mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 AGTCGGTGTCACCCAGCAAGC 0.672000 16 77 0 0 0.028581 0 0 SETX 23064 broad.mit.edu 37 9 135210025 135210025 + Missense_Mutation SNP T T A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr9:135210025T>A ENST00000372169.2 - 7 990 c.808A>T c.(808-810)Ata>Tta p.I270L SETX_ENST00000224140.5_Missense_Mutation_p.I270L|SETX_ENST00000393220.1_Missense_Mutation_p.I270L Q7Z333 SETX_HUMAN senataxin 270 cell death|double-strand break repair|RNA processing cytoplasm|nucleolus|nucleoplasm ATP binding|DNA helicase activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171) GTGTGAAGTATCGATTGCATA 0.373000 11 68 0 0 0.016723 0 0 HEATR1 55127 broad.mit.edu 37 1 236734872 236734872 + Silent SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:236734872G>T ENST00000366582.3 - 27 3936 c.3822C>A c.(3820-3822)ccC>ccA p.P1274P HEATR1_ENST00000366581.2_Silent_p.P1193P NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1274 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACCTACCTTTGGGTATTTTGC 0.393000 5 74 0.0215528 0.0231692 0.021553 1 0 CELSR1 9620 broad.mit.edu 37 22 46780486 46780486 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr22:46780486G>A ENST00000262738.3 - 20 6836 c.6837C>T c.(6835-6837)tcC>tcT p.S2279S NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2279 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGAGACGGAGGACTCCAGCT 0.552000 8 24 0 0 0.003080 0 0 LILRB5 10990 broad.mit.edu 37 19 54760503 54760503 + Silent SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:54760503G>T ENST00000450632.1 - 3 281 c.204C>A c.(202-204)gcC>gcA p.A68A LILRB5_ENST00000449561.2_Silent_p.A68A|LILRB5_ENST00000345866.6_Silent_p.A68A|LILRB5_ENST00000316219.5_Silent_p.A68A O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 68 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTCTCTTCCGGGCCCATGGGA 0.602000 33 189 5.43694e-19 8.90622e-19 0.023175 1 0 OR8H3 390152 broad.mit.edu 37 11 55890560 55890560 + Missense_Mutation SNP T T A rs143312423 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:55890560T>A ENST00000313472.3 + 1 712 c.712T>A c.(712-714)Ttc>Atc p.F238I NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) GCAGAAAGCTTTCTCTACTTG 0.403000 11 70 0 0 0.010729 0 0 TBC1D8 11138 broad.mit.edu 37 2 101706815 101706815 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:101706815C>G ENST00000409318.1 - 2 269 c.139G>C c.(139-141)Ggc>Cgc p.G47R TBC1D8_ENST00000376840.4_Missense_Mutation_p.G47R NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 47 blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 TCCAGAGCGCCGACCAGGCGA 0.547000 7 45 0 0 0.003080 0 0 DCPS 28960 broad.mit.edu 37 11 126174154 126174154 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:126174154A>T ENST00000263579.4 + 1 508 c.179A>T c.(178-180)aAa>aTa p.K60I RP11-712L6.5_ENST00000524964.1_Missense_Mutation_p.L3M NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 60 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) GCGCGGGACAAAATCATTTTC 0.537000 19 99 0 0 0.012319 0 0 NEDD4L 23327 broad.mit.edu 37 18 55996235 55996235 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:55996235C>T ENST00000456986.1 + 10 926 c.326C>T c.(325-327)tCc>tTc p.S109F NEDD4L_ENST00000435432.2_Missense_Mutation_p.S109F|NEDD4L_ENST00000357895.5_Missense_Mutation_p.S222F|NEDD4L_ENST00000400345.3_Missense_Mutation_p.S230F|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.S222F|NEDD4L_ENST00000256832.7_Missense_Mutation_p.S109F|NEDD4L_ENST00000431212.2_Missense_Mutation_p.S109F|NEDD4L_ENST00000456173.2_Missense_Mutation_p.S109F|NEDD4L_ENST00000356462.6_Missense_Mutation_p.S230F|NEDD4L_ENST00000382850.4_Missense_Mutation_p.S230F|NEDD4L_ENST00000256830.9_Missense_Mutation_p.S230F NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 230 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGGGACGTGTCCTCGGAGTCG 0.587000 5 65 0 0 0.014758 0 0 UPK1A 11045 broad.mit.edu 37 19 36159410 36159410 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:36159410C>T ENST00000222275.2 + 2 139 c.139C>T c.(139-141)Cgt>Tgt p.R47C UPK1A-AS1_ENST00000443196.1_RNA|UPK1A_ENST00000379013.2_Missense_Mutation_p.R47C NM_007000.2 NP_008931.1 O00322 UPK1A_HUMAN uroplakin 1A 47 epithelial cell differentiation|protein oligomerization endoplasmic reticulum|integral to membrane monosaccharide binding|protein homodimerization activity p.R47S(1) breast(1)|large_intestine(4)|lung(2)|stomach(2) 9 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGACCAGTACCGTGTATACCC 0.577000 8 96 0 0 0.006214 0 0 PSMA1 5682 broad.mit.edu 37 11 14526749 14526749 + Missense_Mutation SNP T T C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:14526749T>C ENST00000530457.1 - 10 1236 c.706A>G c.(706-708)Atg>Gtg p.M236V PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.M261V|PSMA1_ENST00000396393.1_Missense_Mutation_p.M261V|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000418988.2_Missense_Mutation_p.M267V P25786 PSA1_HUMAN proteasome (prosome, macropain) subunit, alpha type, 1 261 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 3 TAATGTTCCATTGGTTCATCA 0.333000 20 174 0 0 0.009535 0 0 TXNDC11 51061 broad.mit.edu 37 16 11785454 11785454 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:11785454G>A ENST00000356957.3 - 9 1780 c.1673C>T c.(1672-1674)aCt>aTt p.T558I TXNDC11_ENST00000283033.5_Missense_Mutation_p.T531I Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 558 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AAATGCAACAGTAGGGGCTTC 0.488000 4 133 0 0 0.014758 0 0 MYO15A 51168 broad.mit.edu 37 17 18023545 18023545 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:18023545C>A ENST00000205890.5 + 2 1769 c.1431C>A c.(1429-1431)ttC>ttA p.F477L NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 477 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCCGCAAGTTCCGCCTCTTCC 0.647000 19 36 1.55795e-14 2.45841e-14 0.012319 1 0 NAA60 79903 broad.mit.edu 37 16 3533551 3533551 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:3533551A>G ENST00000407558.4 + 6 829 c.526A>G c.(526-528)Acc>Gcc p.T176A NAA60_ENST00000360862.5_Missense_Mutation_p.T111A|NAA60_ENST00000570819.1_Intron|NAA60_ENST00000572584.1_Missense_Mutation_p.T176A|NAA60_ENST00000577013.1_Intron|LA16c-306E5.3_ENST00000574423.2_RNA|NAA60_ENST00000576916.1_Intron|NAA60_ENST00000570551.1_3'UTR|NAA60_ENST00000424546.2_Missense_Mutation_p.T183A|LA16c-306E5.2_ENST00000575785.1_RNA|NAA60_ENST00000421765.3_Intron|NAA60_ENST00000414063.2_Missense_Mutation_p.T176A|NAA60_ENST00000573580.1_Missense_Mutation_p.T111A|NAA60_ENST00000572942.1_Intron|NAA60_ENST00000575076.1_Missense_Mutation_p.T176A NM_001083601.1 NP_001077070.1 Q9H7X0 NAT15_HUMAN N(alpha)-acetyltransferase 60, NatF catalytic subunit 176 N-acetyltransferase. N-acetyltransferase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1) 7 AGATGGCTTCACCTATGTCCT 0.488000 6 65 0 0 0.004482 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997576 72997576 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:72997576G>T ENST00000322038.5 + 2 663 c.79G>T c.(79-81)Gcc>Tcc p.A27S TSHZ1_ENST00000580243.1_Missense_Mutation_p.A72S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 72 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) TAACCAGGACGCCGGCTACGG 0.562000 4 28 0.00909568 0.0100933 0.009096 1 0 LRRC24 441381 broad.mit.edu 37 8 145749504 145749504 + Silent SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr8:145749504C>T ENST00000529415.2 - 4 714 c.597G>A c.(595-597)ctG>ctA p.L199L LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Silent_p.L196L|LRRC14_ENST00000528528.1_Intron Q50LG9 LRC24_HUMAN leucine rich repeat containing 24 199 integral to membrane breast(2)|endometrium(1)|kidney(1)|lung(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTGTGAGGCGCAGGACTTGCA 0.637000 65 190 0 0 0.014410 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85638600 85638600 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:85638600G>C ENST00000393217.2 + 27 5111 c.5050G>C c.(5050-5052)Gac>Cac p.D1684H LRRIQ1_ENST00000528777.3_3'UTR NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1684 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) CACGGATTTAGACCTTTTTTC 0.398000 15 79 0 0 0.010504 0 0 RCC1 1104 broad.mit.edu 37 1 28863368 28863368 + Silent SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:28863368G>T ENST00000373833.6 + 12 1332 c.1047G>T c.(1045-1047)tcG>tcT p.S349S RCC1_ENST00000398958.2_Silent_p.S349S|RCC1_ENST00000373831.3_Silent_p.S380S|RCC1_ENST00000373832.1_Silent_p.S349S P18754 RCC1_HUMAN regulator of chromosome condensation 1 349 cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649) CTGTCTCCTCGGTGGCTTGTG 0.622000 39 226 4.65455e-14 7.21246e-14 0.014410 1 0 GPKOW 27238 broad.mit.edu 37 X 48978831 48978831 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:48978831C>A ENST00000156109.5 - 3 451 c.373G>T c.(373-375)Gac>Tac p.D125Y NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 125 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 AGCGTGGGGTCGACACCCGCA 0.567000 5 31 3.59834e-05 4.35855e-05 0.021553 1 0 LZTS1 11178 broad.mit.edu 37 8 20107693 20107693 + Missense_Mutation SNP C C A rs148039718 byFrequency TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr8:20107693C>A ENST00000381569.1 - 4 1688 c.1331G>T c.(1330-1332)gGc>gTc p.G444V LZTS1_ENST00000522290.1_Missense_Mutation_p.G444V|LZTS1_ENST00000265801.6_Missense_Mutation_p.G444V Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 444 cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1) 29 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) CAGCTCCAGGCCCTTGGTGCG 0.652000 21 112 7.41945e-09 1.03752e-08 0.027356 1 0 TAF6L 10629 broad.mit.edu 37 11 62554190 62554190 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:62554190C>T ENST00000294168.3 + 11 1492 c.1291C>T c.(1291-1293)Cct>Tct p.P431S RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 431 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 GCCGGAGGACCCTTCTCTTTC 0.677000 OREG0021030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 33 0 0 0.001984 0 0 CTSL 1514 broad.mit.edu 37 9 90343602 90343602 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr9:90343602G>C ENST00000343150.5 + 5 1389 c.499G>C c.(499-501)Gta>Cta p.V167L CTSL_ENST00000340342.6_Missense_Mutation_p.V167L|CTSL_ENST00000495822.1_Intron|CTSL_ENST00000342020.5_Missense_Mutation_p.V167L cathepsin L GCAGAATCTGGTAGACTGCTC 0.493000 5 115 0 0 0.014758 0 0 SETD3 84193 broad.mit.edu 37 14 99871602 99871602 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr14:99871602C>A ENST00000331768.5 - 10 1190 c.1031G>T c.(1030-1032)aGt>aTt p.S344I NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 344 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) GTCACTTTTACTCACTCCAAG 0.463000 26 85 7.33532e-06 9.34574e-06 0.021523 1 0 FRMPD4 9758 broad.mit.edu 37 X 12734352 12734352 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:12734352C>A ENST00000380682.1 + 15 2280 c.1774C>A c.(1774-1776)Cac>Aac p.H592N NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 592 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 TCCAAAAGAGCACCGGCACTT 0.507000 13 123 0.0285812 0.030534 0.028581 1 0 APOB 338 broad.mit.edu 37 2 21230012 21230012 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:21230012G>C ENST00000233242.1 - 26 9855 c.9728C>G c.(9727-9729)cCc>cGc p.P3243R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3243 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AAAGGTCCTGGGGAGCTCGTC 0.378000 3 35 0 0 0.009096 0 0 PACSIN1 29993 broad.mit.edu 37 6 34499392 34499392 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:34499392C>G ENST00000538621.1 + 9 1298 c.1053C>G c.(1051-1053)gaC>gaG p.D351E PACSIN1_ENST00000374043.2_Missense_Mutation_p.D309E|PACSIN1_ENST00000244458.2_Missense_Mutation_p.D351E NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 351 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 GCAGCTACGACAGAGGCCAGC 0.622000 11 138 0 0 0.016723 0 0 ZNF250 58500 broad.mit.edu 37 8 146112249 146112249 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr8:146112249G>C ENST00000292579.7 - 5 453 c.337C>G c.(337-339)Caa>Gaa p.Q113E ZNF250_ENST00000342660.6_Missense_Mutation_p.Q108E|ZNF250_ENST00000417550.2_Missense_Mutation_p.Q108E|ZNF250_ENST00000543949.1_Missense_Mutation_p.Q113E NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AAACTGTCTTGTTGTGTACAG 0.373000 16 138 0 0 0.010504 0 0 FCRL5 83416 broad.mit.edu 37 1 157514290 157514290 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:157514290G>A ENST00000361835.3 - 5 763 c.606C>T c.(604-606)atC>atT p.I202I FCRL5_ENST00000368189.3_Silent_p.I202I|FCRL5_ENST00000356953.4_Silent_p.I202I|FCRL5_ENST00000368191.3_Silent_p.I117I|FCRL5_ENST00000368190.3_Silent_p.I202I NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 202 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGTTCCCGCTGATGGGCTGGA 0.562000 5 117 0 0 0.021553 0 0 SCN7A 6332 broad.mit.edu 37 2 167262236 167262236 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:167262236C>A ENST00000409855.1 - 25 5029 c.4903G>T c.(4903-4905)Gct>Tct p.A1635S NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1635 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTTTTATAAGCACGTTGAATG 0.378000 15 109 1.3612e-06 1.78723e-06 0.024245 1 0 ANKS1B 56899 broad.mit.edu 37 12 100048885 100048885 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:100048885C>A ENST00000547776.2 - 9 1231 c.1232G>T c.(1231-1233)tGt>tTt p.C411F ANKS1B_ENST00000329257.7_Missense_Mutation_p.C411F|ANKS1B_ENST00000547010.1_5'UTR NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 411 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACATCCATTACACGGAGTTAA 0.403000 9 45 7.03913e-09 9.92401e-09 0.013537 1 0 ORAI3 93129 broad.mit.edu 37 16 30964750 30964750 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:30964750G>C ENST00000318663.4 + 2 697 c.473G>C c.(472-474)gGc>gCc p.G158A ORAI3_ENST00000566237.1_Missense_Mutation_p.G158A|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 158 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 ACTGCCCTGGGCACCTTTCTC 0.597000 OREG0023742 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 140 0 0 0.008361 0 0 OTOL1 131149 broad.mit.edu 37 3 161221658 161221658 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:161221658C>A ENST00000327928.4 + 4 1362 c.1362C>A c.(1360-1362)gtC>gtA p.V454V NM_001080440.1 NP_001073909.1 A6NHN0 OTOL1_HUMAN otolin 1 454 C1q. collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GGGTGTATGTCAGTGCTGAGG 0.438000 5 61 0.014758 0.016168 0.014758 1 0 DES 1674 broad.mit.edu 37 2 220286087 220286087 + Missense_Mutation SNP G G T rs57965306 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:220286087G>T ENST00000373960.3 + 6 1135 c.1049G>T c.(1048-1050)cGg>cTg p.R350L NM_001927.3 NP_001918.3 P17661 DESM_HUMAN desmin 350 Coil 2B.|Rod. R -> P (in Kaeser syndrome and MFM1; incapable of de novo formation of a desmin intermediate filaments network; exerts a dominant negative effect on the ordered lateral arrangement of desmin subunits; dbSNP:rs57965306). cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) AGGCAGATGCGGGAATTGGAG 0.587000 7 64 3.09899e-07 4.13198e-07 0.004482 1 0 DSG3 1830 broad.mit.edu 37 18 29056100 29056100 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:29056100G>A ENST00000257189.4 + 16 2960 c.2877G>A c.(2875-2877)gtG>gtA p.V959V NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 959 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CACAAAATGTGATAGTGACAG 0.498000 4 154 0 0 0.009096 0 0 IGLV3-16 28799 broad.mit.edu 37 22 23090380 23090380 + RNA SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr22:23090380C>T ENST00000390311.2 + 0 357 CTATTACTGTCTATCAGCAGA 0.517000 15 49 0 0 0.008871 0 0 CALCR 799 broad.mit.edu 37 7 93055880 93055880 + Nonsense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:93055880G>A ENST00000359558.2 - 16 1614 c.1315C>T c.(1315-1317)Caa>Taa p.Q439* CALCR_ENST00000421592.1_Nonsense_Mutation_p.Q421*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.Q421*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.Q405*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.Q405* NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor 421 activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) TGGGCCCATTGGCGCTTCACG 0.532000 11 32 0 0 0.008291 0 0 PBX4 80714 broad.mit.edu 37 19 19681537 19681537 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:19681537C>A ENST00000251203.8 - 3 585 c.299G>T c.(298-300)gGa>gTa p.G100V NM_025245.2 NP_079521.1 Q9BYU1 PBX4_HUMAN pre-B-cell leukemia homeobox 4 100 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(4)|ovary(1)|prostate(3) 9 TCCTCCTCTTCCTCTCTTCTC 0.602000 9 53 1.12685e-05 1.40448e-05 0.004482 1 0 FAM47A 158724 broad.mit.edu 37 X 34148985 34148985 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:34148985G>T ENST00000346193.3 - 1 1462 c.1411C>A c.(1411-1413)Ccc>Acc p.P471T NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 471 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGAGTCTCGGGAGGCTGCAGG 0.602000 11 68 2.27111e-07 3.07583e-07 0.013537 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106856830 106856830 + Missense_Mutation SNP T T A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:106856830T>A ENST00000526355.1 - 2 799 c.331A>T c.(331-333)Agg>Tgg p.R111W GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R111W|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R111W NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 111 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TGCAGTGTCCTCTTGAGAGTC 0.343000 15 75 0 0 0.028581 0 0 INPP5D 3635 broad.mit.edu 37 2 233995347 233995347 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:233995347G>A ENST00000359570.5 + 5 654 c.654G>A c.(652-654)aaG>aaA p.K218K INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Silent_p.K218K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 218 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGCTCTGCAAGGAGCTCTATG 0.577000 3 38 0 0 0.021553 0 0 RYR2 6262 broad.mit.edu 37 1 237813214 237813214 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:237813214A>T ENST00000366574.2 + 50 7867 c.7550A>T c.(7549-7551)aAt>aTt p.N2517I RYR2_ENST00000542537.1_Missense_Mutation_p.N2501I|RYR2_ENST00000360064.6_Missense_Mutation_p.N2515I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2517 4 X approximate repeats. 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) TTGGCCCTCAATCGGTACCTT 0.463000 28 132 0 0 0.019004 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769110 15769110 + Silent SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:15769110C>T ENST00000221307.7 + 10 1200 c.1152C>T c.(1150-1152)tgC>tgT p.C384C CYP4F3_ENST00000585846.1_Silent_p.C384C|CYP4F3_ENST00000591058.1_Silent_p.C384C|CYP4F3_ENST00000586182.1_Silent_p.C384C|CYP4F3_ENST00000592424.1_3'UTR NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 384 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding p.C384*(1) endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TGACCATGTGCATTAAGGAGA 0.592000 17 122 0 0 0.006122 0 0 VAPA 9218 broad.mit.edu 37 18 9914270 9914270 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:9914270G>T ENST00000400000.2 + 1 272 c.17G>T c.(16-18)gGg>gTg p.G6V VAPA_ENST00000340541.4_Missense_Mutation_p.G6V NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 6 cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 TCCGCCTCAGGGGCCATGGCG 0.721000 3 30 0.014758 0.016168 0.014758 1 0 BARX2 8538 broad.mit.edu 37 11 129246035 129246035 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:129246035C>A ENST00000281437.4 + 1 201 c.105C>A c.(103-105)acC>acA p.T35T NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 35 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCAAGGAGACCTGCGATTACT 0.602000 OREG0021508 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 165 1.42033e-22 2.41878e-22 0.019004 1 0 FAT4 79633 broad.mit.edu 37 4 126372962 126372962 + Silent SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr4:126372962A>T ENST00000394329.3 + 9 10804 c.10791A>T c.(10789-10791)acA>acT p.T3597T FAT4_ENST00000335110.5_Silent_p.T1895T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3597 Cadherin 34. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGTCTTCCACAGGAACTGTGC 0.428000 20 106 0 0 0.021523 0 0 RYR1 6261 broad.mit.edu 37 19 39034259 39034259 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:39034259G>T ENST00000355481.4 + 85 11982 c.11851G>T c.(11851-11853)Gtg>Ttg p.V3951L RYR1_ENST00000360985.3_Missense_Mutation_p.V3951L|RYR1_ENST00000359596.3_Missense_Mutation_p.V3956L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3956 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGCCATGTCGGTGGCTAAGCA 0.597000 17 105 5.3912e-06 6.92005e-06 0.006122 1 0 ASCC3 10973 broad.mit.edu 37 6 100965873 100965873 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:100965873A>G ENST00000369162.2 - 38 6265 c.5921T>C c.(5920-5922)cTt>cCt p.L1974P NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1974 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTACTTGAAAAGGTGAAGATG 0.308000 3 79 0 0 0.004672 0 0 IL12A 3592 broad.mit.edu 37 3 159713204 159713204 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:159713204A>G ENST00000305579.2 + 7 927 c.620A>G c.(619-621)aAc>aGc p.N207S IL12A_ENST00000480787.1_Missense_Mutation_p.N169S|IL12A_ENST00000466512.1_Missense_Mutation_p.N193S|CTD-2049J23.2_ENST00000497452.1_RNA NM_000882.3 NP_000873.2 P29459 IL12A_HUMAN interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) 173 cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus interleukin-12 complex cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity endometrium(3)|kidney(1)|large_intestine(1)|lung(4) 9 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CTGAATTTCAACAGTGAGACT 0.373000 8 74 0 0 0.004482 0 0 BEST2 54831 broad.mit.edu 37 19 12867072 12867072 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:12867072C>T ENST00000549706.1 + 9 1390 c.1066C>T c.(1066-1068)Cgg>Tgg p.R356W BEST2_ENST00000553030.1_Missense_Mutation_p.R356W|BEST2_ENST00000042931.1_Missense_Mutation_p.R356W Q8NFU1 BEST2_HUMAN bestrophin 2 356 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 CTTCCAGCTGCGGCAGCCTTC 0.627000 10 199 0 0 0.010729 0 0 SSR4 6748 broad.mit.edu 37 X 153062934 153062934 + Missense_Mutation SNP G G T rs149873632 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:153062934G>T ENST00000320857.3 + 4 1292 c.208G>T c.(208-210)Gtc>Ttc p.V70F SSR4_ENST00000370085.3_Intron|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370087.1_Missense_Mutation_p.V70F|SSR4_ENST00000370086.3_Missense_Mutation_p.V70F NM_001204526.1 NP_001191455.1 P51571 SSRD_HUMAN signal sequence receptor, delta 70 intracellular protein transport integral to membrane|Sec61 translocon complex calcium ion binding|protein binding central_nervous_system(1)|endometrium(1)|lung(2) 4 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) CTATGCTGACGTCGGTGGAAA 0.617000 12 96 2.5808e-16 4.14857e-16 0.006122 1 0 ANKMY1 51281 broad.mit.edu 37 2 241465685 241465685 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:241465685C>A ENST00000391987.1 - 6 1230 c.864G>T c.(862-864)gtG>gtT p.V288V ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000272972.3_Silent_p.V288V|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Silent_p.V377V|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405523.3_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 288 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTGCGTCCGCCACGTCAGCAC 0.552000 7 90 0.000274275 0.000314502 0.004482 1 0 MUC5B 727897 broad.mit.edu 37 11 1263477 1263477 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:1263477G>A ENST00000447027.1 + 31 5434 c.5376G>A c.(5374-5376)gaG>gaA p.E1792E MUC5B_ENST00000529681.1_Silent_p.E1789E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1789 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGAAGTGTGAGTGGACAGAGT 0.587000 13 97 0 0 0.020292 0 0 MUC16 94025 broad.mit.edu 37 19 9087070 9087070 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:9087070G>T ENST00000397910.4 - 1 4948 c.4745C>A c.(4744-4746)tCc>tAc p.S1582Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1582 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGGAAGGGGATGCTGAGGC 0.498000 23 209 2.27525e-19 3.76292e-19 0.021523 1 0 ZNF668 79759 broad.mit.edu 37 16 31073432 31073432 + Missense_Mutation SNP T T A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:31073432T>A ENST00000538906.1 - 3 1601 c.817A>T c.(817-819)Acg>Tcg p.T273S ZNF668_ENST00000535577.1_Missense_Mutation_p.T273S|ZNF668_ENST00000300849.4_Missense_Mutation_p.T273S|ZNF668_ENST00000426488.2_Missense_Mutation_p.T296S|ZNF668_ENST00000417110.2_Missense_Mutation_p.V207E|ZNF668_ENST00000539836.3_Missense_Mutation_p.T296S|ZNF668_ENST00000394983.2_Missense_Mutation_p.T273S NM_001172668.1 NP_001166139.1 Q96K58 ZN668_HUMAN zinc finger protein 668 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 CCCGAGTGCGTGCGCTCGTGG 0.692000 5 59 0 0 0.021553 0 0 EIF3C 8663 broad.mit.edu 37 16 28734627 28734627 + Nonsense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:28734627G>T ENST00000331666.6 + 9 1105 c.919G>T c.(919-921)Gga>Tga p.G307* EIF3C_ENST00000566866.1_Nonsense_Mutation_p.G307*|EIF3C_ENST00000564243.1_Nonsense_Mutation_p.G297*|EIF3C_ENST00000395587.1_Nonsense_Mutation_p.G307*|EIF3C_ENST00000566501.1_Nonsense_Mutation_p.G307* Q99613 EIF3C_HUMAN eukaryotic translation initiation factor 3, subunit C 307 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity p.G307*(2) lung(5)|skin(1) 6 GGTCCGGGGCGGAGTGCCGTT 0.542000 39 534 1.38909e-20 2.3424e-20 0.014410 1 0 LINC00303 284573 broad.mit.edu 37 1 204009392 204009392 + RNA SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:204009392C>A ENST00000367207.3 - 0 304 CATATCCACACCAGTGAGAGC 0.448000 5 18 0.00198382 0.00221569 0.001984 1 0 TRIM21 6737 broad.mit.edu 37 11 4409573 4409573 + Missense_Mutation SNP T T A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:4409573T>A ENST00000254436.7 - 4 804 c.692A>T c.(691-693)gAg>gTg p.E231V TRIM21_ENST00000543625.1_Missense_Mutation_p.E231V NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 231 E -> K (in dbSNP:rs2554934). cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) TCGATCTAGCTCTGAGATGAG 0.557000 10 67 0 0 0.010729 0 0 EPG5 57724 broad.mit.edu 37 18 43437840 43437840 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr18:43437840G>A ENST00000282041.5 - 42 7454 c.7420C>T c.(7420-7422)Cgg>Tgg p.R2474W EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2474 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 GGCGACTTCCGGCCAAACCCA 0.488000 13 63 0 0 0.028581 0 0 SUPT16H 11198 broad.mit.edu 37 14 21836475 21836475 + Missense_Mutation SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr14:21836475T>G ENST00000216297.2 - 7 1246 c.908A>C c.(907-909)aAc>aCc p.N303T NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 303 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) GAGCAAAAAGTTATAATTTTC 0.408000 10 67 0 0 0.010729 0 0 HTR3B 9177 broad.mit.edu 37 11 113803729 113803729 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:113803729G>A ENST00000260191.2 + 6 867 c.610G>A c.(610-612)Gac>Aac p.D204N HTR3B_ENST00000537778.1_Missense_Mutation_p.D193N NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 204 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GTTTTTGAATGACAGTGAGTG 0.453000 6 42 0 0 0.021553 0 0 ADSS 159 broad.mit.edu 37 1 244580948 244580948 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:244580948A>G ENST00000366535.3 - 10 1368 c.1052T>C c.(1051-1053)aTg>aCg p.M351T NM_001126.3 NP_001117.2 P30520 PURA2_HUMAN adenylosuccinate synthase 351 AMP biosynthetic process|immune system process|purine base metabolic process cytosol|plasma membrane adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all_cancers(173;0.0896)|all_epithelial(177;0.172) all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014) L-Aspartic Acid(DB00128) TCCATTGATCATATGAGCATA 0.363000 9 65 0 0 0.010729 0 0 LPHN3 23284 broad.mit.edu 37 4 62800699 62800699 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr4:62800699C>G ENST00000512091.1 + 13 2797 c.2050C>G c.(2050-2052)Ctt>Gtt p.L684V LPHN3_ENST00000514157.1_Missense_Mutation_p.L684V|LPHN3_ENST00000508693.1_Missense_Mutation_p.L752V|LPHN3_ENST00000507625.1_Missense_Mutation_p.L752V|LPHN3_ENST00000504896.1_Missense_Mutation_p.L684V|LPHN3_ENST00000508946.1_Missense_Mutation_p.L684V|LPHN3_ENST00000509896.1_Missense_Mutation_p.L752V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.L752V|LPHN3_ENST00000507164.1_Missense_Mutation_p.L752V|LPHN3_ENST00000506746.1_Missense_Mutation_p.L752V|LPHN3_ENST00000514591.1_Missense_Mutation_p.L684V|LPHN3_ENST00000506700.1_Missense_Mutation_p.L684V|LPHN3_ENST00000511324.1_Missense_Mutation_p.L752V|LPHN3_ENST00000545650.1_Missense_Mutation_p.L684V|LPHN3_ENST00000514996.1_Missense_Mutation_p.L684V Q9HAR2 LPHN3_HUMAN latrophilin 3 671 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GGCTGATAACCTTTTGAAGAC 0.443000 5 60 0 0 0.021553 0 0 SLC9A3 6550 broad.mit.edu 37 5 491958 491958 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:491958G>A ENST00000264938.3 - 2 449 c.440C>T c.(439-441)gCc>gTc p.A147V SLC9A3_ENST00000514375.1_Missense_Mutation_p.A147V NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 147 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) ACCCACGACGGCGTACAACAG 0.642000 6 15 0 0 0.021553 0 0 LRP1 4035 broad.mit.edu 37 12 57587439 57587439 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:57587439G>T ENST00000243077.3 + 47 8241 c.7775G>T c.(7774-7776)gGg>gTg p.G2592V NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2592 LDL-receptor class A 12. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GACGACTGTGGGGATGGCTCT 0.602000 25 78 2.61193e-14 4.08411e-14 0.009535 1 0 TNR 7143 broad.mit.edu 37 1 175335167 175335167 + Missense_Mutation SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:175335167T>G ENST00000367674.1 - 11 2869 c.2161A>C c.(2161-2163)Acc>Ccc p.T721P TNR_ENST00000263525.2_Missense_Mutation_p.T721P NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 721 Fibronectin type-III 5. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAGGATGGGGTAAAGGTAATT 0.552000 7 95 0 0 0.004482 0 0 TRPM1 4308 broad.mit.edu 37 15 31294305 31294305 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr15:31294305A>T ENST00000542188.1 - 27 4962 c.4649T>A c.(4648-4650)gTc>gAc p.V1550D TRPM1_ENST00000256552.6_Missense_Mutation_p.V1533D|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.V1511D NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1511 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGCTTCAGCGACATGGTGTTC 0.458000 12 311 0 0 0.016723 0 0 SLC6A8 6535 broad.mit.edu 37 X 152960251 152960251 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:152960251G>T ENST00000253122.5 + 12 2150 c.1674G>T c.(1672-1674)gaG>gaT p.E558D SLC6A8_ENST00000430077.2_Missense_Mutation_p.E443D|SLC6A8_ENST00000485324.1_3'UTR NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 558 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) GGTGGGGTGAGGCCATGGGCT 0.617000 11 62 1.61879e-10 2.37976e-10 0.013537 1 0 PTPRK 5796 broad.mit.edu 37 6 128643394 128643394 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:128643394C>A ENST00000368227.3 - 3 651 c.285G>T c.(283-285)ctG>ctT p.L95L PTPRK_ENST00000368215.3_Silent_p.L95L|PTPRK_ENST00000532331.1_Silent_p.L95L|PTPRK_ENST00000525459.1_Silent_p.L95L|PTPRK_ENST00000368213.5_Silent_p.L95L|PTPRK_ENST00000368207.3_Silent_p.L95L|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368226.4_Silent_p.L95L|PTPRK_ENST00000368210.3_Silent_p.L95L Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 95 MAM. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TCATTGTAGGCAGCTGAAGTC 0.388000 11 128 4.36969e-10 6.36938e-10 0.016723 1 0 HIPK2 28996 broad.mit.edu 37 7 139416071 139416071 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:139416071C>A ENST00000406875.3 - 2 857 c.763G>T c.(763-765)Gcc>Tcc p.A255S HIPK2_ENST00000342645.6_Missense_Mutation_p.A255S|HIPK2_ENST00000428878.2_Missense_Mutation_p.A255S NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 255 Interaction with DAXX.|Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) TAGTCATCGGCACTCTCCGTG 0.517000 9 38 1.12685e-05 1.40448e-05 0.004482 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 3 33 0.000602214 0.000685966 0.014758 1 0 FAM47B 170062 broad.mit.edu 37 X 34961812 34961812 + Silent SNP C C G rs142684131 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:34961812C>G ENST00000329357.5 + 1 900 c.864C>G c.(862-864)ccC>ccG p.P288P NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 288 Pro-rich. breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CGGAGCCTCCCGAGACTCGCG 0.627000 10 71 0 0 0.010729 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764800 109764800 + RNA SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:109764800G>T ENST00000602699.1 + 0 1261 NR_002718.2 TTTCTACCCGGCTGTGATGGC 0.562000 11 73 1.08611e-07 1.48262e-07 0.010729 1 0 SIX6 4990 broad.mit.edu 37 14 60976318 60976318 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr14:60976318C>A ENST00000327720.5 + 1 650 c.202C>A c.(202-204)Cgc>Agc p.R68S NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 68 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R68S(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) TGGCAACTACCGCGAGCTCTA 0.607000 6 22 3.59834e-05 4.35855e-05 0.021553 1 0 GPA33 10223 broad.mit.edu 37 1 167032927 167032927 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:167032927C>A ENST00000367868.3 - 4 806 c.463G>T c.(463-465)Ggg>Tgg p.G155W GPA33_ENST00000527955.1_5'UTR NM_005814.1 NP_005805.1 Q99795 GPA33_HUMAN glycoprotein A33 (transmembrane) 155 Ig-like C2-type. integral to plasma membrane receptor activity endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 ATGTTGTTCCCAATTATGGTC 0.547000 21 145 6.32553e-13 9.54378e-13 0.024334 1 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374412 95374412 + RNA SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:95374412G>T ENST00000494840.1 - 0 1449 NR_077228.1 ATCCTTGTCTGGAGAAAAAGC 0.428000 14 71 1.05317e-09 1.50954e-09 0.020292 1 0 SLC25A38 54977 broad.mit.edu 37 3 39432934 39432934 + Silent SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:39432934C>T ENST00000273158.4 + 4 656 c.279C>T c.(277-279)tcC>tcT p.S93S NM_017875.2 NP_060345.2 Q96DW6 S2538_HUMAN solute carrier family 25, member 38 93 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTCTGCAGTCCATTGTGAGAT 0.468000 79 543 0 0 0.014410 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122466 32122466 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:32122466A>G ENST00000422437.1 + 2 286 c.95A>G c.(94-96)cAc>cGc p.H32R PPT2_ENST00000324816.6_Missense_Mutation_p.H32R|PPT2_ENST00000375143.2_Missense_Mutation_p.H32R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000395523.1_Missense_Mutation_p.H32R|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.H32R|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.H32R|PPT2_ENST00000361568.2_Missense_Mutation_p.H38R CCCGCGCCCCACCGCGCGTCC 0.672000 7 66 0 0 0.001984 0 0 OR51V1 283111 broad.mit.edu 37 11 5221240 5221240 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:5221240G>A ENST00000321255.1 - 1 690 c.691C>T c.(691-693)Ctt>Ttt p.L231F NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGACTTAAGAATCAGGATG 0.433000 8 53 0 0 0.003080 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948601 2948601 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:2948601G>A ENST00000380520.1 - 6 3056 c.1062C>T c.(1060-1062)ccC>ccT p.P354P SERPINB6_ENST00000380539.1_Silent_p.P354P|SERPINB6_ENST00000335686.5_Silent_p.P354P|SERPINB6_ENST00000380529.1_Silent_p.P354P|SERPINB6_ENST00000380546.3_Silent_p.P354P|SERPINB6_ENST00000380524.1_Silent_p.P354P P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 354 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGAAAAGGAAGGGGTGGTCGG 0.602000 3 38 0 0 0.004672 0 0 BICD1 636 broad.mit.edu 37 12 32458919 32458919 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr12:32458919C>T ENST00000548411.1 + 4 1049 c.868C>T c.(868-870)Cat>Tat p.H290Y BICD1_ENST00000281474.5_Missense_Mutation_p.H290Y NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 290 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CGGTCATATCCATGGGCCTCT 0.448000 5 51 0 0 0.021553 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926638 22926638 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:22926638C>A ENST00000261374.3 + 2 1293 c.859C>A c.(859-861)Cga>Aga p.R287R NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 287 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) CGAGATGGGGCGAGTCCAGGA 0.532000 28 218 1.08312e-15 1.72497e-15 0.009535 1 0 KIAA1210 57481 broad.mit.edu 37 X 118238956 118238956 + Splice_Site SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:118238956T>G ENST00000402510.2 - 7 1066 c.1068_splice c.e7+1 p.Q356_splice NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 356 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TATACTCACCTGAGTCGCTGT 0.428000 29 184 0 0 0.025465 0 0 MPRIP 23164 broad.mit.edu 37 17 17057722 17057722 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:17057722G>T ENST00000395811.5 + 13 1557 c.1468G>T c.(1468-1470)Gtg>Ttg p.V490L MPRIP_ENST00000444976.1_Missense_Mutation_p.V452L|MPRIP_ENST00000341712.4_Missense_Mutation_p.V490L|MPRIP_ENST00000395804.3_Missense_Mutation_p.V490L NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 490 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TGCCCCGGATGTGACCAGGTA 0.592000 12 60 6.31663e-08 8.69168e-08 0.024245 1 0 HYDIN 54768 broad.mit.edu 37 16 70889125 70889125 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:70889125C>G ENST00000393567.2 - 73 12499 c.12349G>C c.(12349-12351)Gat>Cat p.D4117H NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4117 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGGAAAAATCGAACCCCTGC 0.547000 3 110 0 0 0.014758 0 0 TTC3 7267 broad.mit.edu 37 21 38459593 38459593 + Silent SNP G G T rs73201925 by1000genomes TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr21:38459593G>T ENST00000399017.2 + 2 2783 c.36G>T c.(34-36)gcG>gcT p.A12A TTC3_ENST00000540756.1_Intron|TTC3_ENST00000355666.1_Silent_p.A12A|TTC3_ENST00000354749.2_Silent_p.A12A|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000399010.1_Silent_p.A12A NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 12 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TCACTGTGGCGGATTATGCCT 0.403000 40 232 1.31962e-36 2.26974e-36 0.008740 1 0 IL16 3603 broad.mit.edu 37 15 81593853 81593853 + Splice_Site SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr15:81593853G>T ENST00000394660.2 + 15 3678 c.3318_splice c.e15+1 p.K1106_splice IL16_ENST00000302987.4_Splice_Site_p.K1106_splice|IL16_ENST00000394652.2_Splice_Site_p.K405_splice NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 1106 Interaction with HTLV-1 tax.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 CAACATTAAAGGTAGGTTTCC 0.473000 9 52 3.07112e-06 3.97167e-06 0.010729 1 0 OR8J3 81168 broad.mit.edu 37 11 55904714 55904714 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:55904714G>T ENST00000301529.1 - 1 480 c.481C>A c.(481-483)Cct>Act p.P161T NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AATATACAAGGTGAAACCACA 0.423000 13 74 0.00010058 0.000119309 0.013537 1 0 OR4C15 81309 broad.mit.edu 37 11 55321821 55321821 + Silent SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:55321821A>T ENST00000314644.2 + 1 39 c.39A>T c.(37-39)gcA>gcT p.A13A NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ATAATTTTGCACTTGGATGTA 0.323000 HNSCC(20;0.049) 16 84 0 0 0.006122 0 0 FLI1 2313 broad.mit.edu 37 11 128680399 128680399 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:128680399C>T ENST00000344954.6 + 9 1164 c.776C>T c.(775-777)tCc>tTc p.S259F FLI1_ENST00000429175.2_Missense_Mutation_p.S292F|FLI1_ENST00000281428.8_Missense_Mutation_p.S226F|FLI1_ENST00000534087.1_Missense_Mutation_p.S259F|FLI1_ENST00000525560.1_Missense_Mutation_p.S99F Q01543 FLI1_HUMAN Fli-1 proto-oncogene, ETS transcription factor 292 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) GAGCTGCTCTCCGACAGCGCC 0.627000 T EWSR1 Ewing sarcoma 5 11 0 0 0.014758 0 0 C19orf44 84167 broad.mit.edu 37 19 16612013 16612013 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:16612013G>T ENST00000221671.3 + 2 566 c.410G>T c.(409-411)gGg>gTg p.G137V CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.G137V NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 137 endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 ATCCTCTCTGGGGGTGCACTC 0.507000 12 60 1.05317e-09 1.50954e-09 0.020292 1 0 ERN2 10595 broad.mit.edu 37 16 23702633 23702633 + Silent SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:23702633C>T ENST00000256797.4 - 20 2802 c.2634G>A c.(2632-2634)ccG>ccA p.P878P ERN2_ENST00000457008.2_Silent_p.P778P NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 830 KEN. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CTGTCTGCAGCGGCATGGAGA 0.672000 3 51 0 0 0.009096 0 0 GOLGB1 2804 broad.mit.edu 37 3 121383793 121383793 + Missense_Mutation SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:121383793T>G ENST00000393667.3 - 21 9765 c.9655A>C c.(9655-9657)Aca>Cca p.T3219P GOLGB1_ENST00000340645.5_Missense_Mutation_p.T3209P NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3209 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) CTGTTGCTTGTAAGATCTATT 0.478000 8 66 0 0 0.006214 0 0 FAM71B 153745 broad.mit.edu 37 5 156589684 156589684 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:156589684G>T ENST00000302938.4 - 2 1687 c.1592C>A c.(1591-1593)gCc>gAc p.A531D NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 531 nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATCTTACTGGCTTTCTTTTG 0.473000 13 44 1.5842e-08 2.19744e-08 0.016723 1 0 PIPSL 266971 broad.mit.edu 37 10 95720433 95720433 + RNA SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr10:95720433G>T ENST00000480546.1 - 0 864 NR_002319.2 TCCAAAAAAAGACCATCAGGG 0.488000 9 46 1.58986e-06 2.07164e-06 0.008291 1 0 MUS81 80198 broad.mit.edu 37 11 65631311 65631311 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:65631311A>T ENST00000308110.4 + 10 1347 c.998A>T c.(997-999)gAg>gTg p.E333V MUS81_ENST00000533035.1_Missense_Mutation_p.E258V NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 333 ERCC4. DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) CACATTGTGGAGCGCAAGCGA 0.607000 Homologous recombination 24 92 0 0 0.009535 0 0 AIM1 202 broad.mit.edu 37 6 106967686 106967686 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:106967686C>T ENST00000369066.3 + 2 1866 c.1379C>T c.(1378-1380)tCa>tTa p.S460L NM_001624.2 NP_001615.1 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 460 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) CCTGCTGAGTCATCTCCTGGG 0.512000 9 108 0 0 0.010729 0 0 ZNF534 147658 broad.mit.edu 37 19 52941209 52941209 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:52941209G>T ENST00000332323.6 + 4 596 c.535G>T c.(535-537)Gat>Tat p.D179Y ZNF534_ENST00000433050.1_Missense_Mutation_p.D166Y|ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron NM_001143939.1 NP_001137411.1 Q76KX8 ZN534_HUMAN zinc finger protein 534 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 CTACAGAAATGATTTTCTTTT 0.333000 7 52 1.12685e-05 1.40448e-05 0.004482 1 0 ANKMY1 51281 broad.mit.edu 37 2 241465684 241465684 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:241465684C>A ENST00000391987.1 - 6 1231 c.865G>T c.(865-867)Gcg>Tcg p.A289S ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.A289S|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.A378S|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405523.3_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 289 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTTGCGTCCGCCACGTCAGCA 0.552000 7 90 0.000274275 0.000314502 0.004482 1 0 ANKRD13B 124930 broad.mit.edu 37 17 27939023 27939023 + Splice_Site SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:27939023A>G ENST00000394859.3 + 10 1253 c.1100_splice c.e10+1 p.K367_splice RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 367 cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 CAAGACACAGAAGTGAGGCCC 0.612000 7 45 0 0 0.004482 0 0 ZNF98 148198 broad.mit.edu 37 19 22585642 22585642 + Nonsense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:22585642C>A ENST00000357774.5 - 3 323 c.202G>T c.(202-204)Gga>Tga p.G68* ZNF98_ENST00000601553.1_Nonsense_Mutation_p.G68* NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 68 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GGTTCTTTTCCTTGCTCCAGA 0.423000 18 99 3.32936e-07 4.405e-07 0.006122 1 0 ISPD 729920 broad.mit.edu 37 7 16348241 16348241 + Silent SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:16348241A>G ENST00000407010.2 - 4 695 c.696T>C c.(694-696)taT>taC p.Y232Y ISPD_ENST00000399310.3_Silent_p.Y182Y NM_001101426.3 NP_001094896.1 A4D126 ISPD_HUMAN isoprenoid synthase domain containing 232 isoprenoid biosynthetic process nucleotidyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1) 9 ATTCCAAGTCATAGTCACTAC 0.373000 Multiple Myeloma(15;0.18) 4 15 0 0 0.009096 0 0 CDH8 1006 broad.mit.edu 37 16 61689518 61689518 + Missense_Mutation SNP T T A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:61689518T>A ENST00000577390.1 - 11 2716 c.1762A>T c.(1762-1764)Agc>Tgc p.S588C CDH8_ENST00000299345.6_Missense_Mutation_p.S588C|CDH8_ENST00000577730.1_Missense_Mutation_p.S588C NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 588 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GTGCTAGTGCTGCTCAGTGGA 0.453000 14 77 0 0 0.006122 0 0 CACNG8 59283 broad.mit.edu 37 19 54483188 54483188 + Nonsense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:54483188C>A ENST00000270458.2 + 3 538 c.435C>A c.(433-435)tgC>tgA p.C145* NM_031895.5 NP_114101.4 Q8WXS5 CCG8_HUMAN calcium channel, voltage-dependent, gamma subunit 8 145 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1) 13 all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.162) GGGGTGTGTGCGTGGCGGCCT 0.642000 11 28 0.00010058 0.000119309 0.013537 1 0 SHCBP1 79801 broad.mit.edu 37 16 46649880 46649880 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:46649880C>A ENST00000303383.3 - 4 840 c.574G>T c.(574-576)Gcc>Tcc p.A192S NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 192 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) ATTGCAAGGGCTGTCTGGTCA 0.463000 27 180 8.4185e-14 1.29284e-13 0.012213 1 0 ASTN2 23245 broad.mit.edu 37 9 119567928 119567928 + Silent SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr9:119567928G>T ENST00000313400.4 - 13 2479 c.2379C>A c.(2377-2379)gtC>gtA p.V793V ASTN2_ENST00000373996.3_Silent_p.V789V|ASTN2_ENST00000361209.2_Silent_p.V742V|ASTN2_ENST00000361477.3_5'UTR O75129 ASTN2_HUMAN astrotactin 2 793 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 TCATCTGGAAGACTTGGCCTT 0.488000 20 114 3.73988e-18 6.06849e-18 0.006320 1 0 GPR27 2850 broad.mit.edu 37 3 71804119 71804119 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:71804119C>T ENST00000304411.2 + 1 919 c.919C>T c.(919-921)Cgg>Tgg p.R307W NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 307 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CAGCTACCTGCGGGTCCTGGT 0.662000 5 44 0 0 0.014758 0 0 LRP1B 53353 broad.mit.edu 37 2 141299476 141299476 + Nonsense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:141299476C>T ENST00000389484.3 - 44 8230 c.7259G>A c.(7258-7260)tGg>tAg p.W2420* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2420 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCAGTCCGACCAGAATATATA 0.388000 TSP Lung(27;0.18) 13 62 0 0 0.020292 0 0 FAM65A 79567 broad.mit.edu 37 16 67579635 67579635 + Missense_Mutation SNP G G A rs139937481 TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:67579635G>A ENST00000540839.3 + 20 3536 c.3316G>A c.(3316-3318)Gag>Aag p.E1106K FAM65A_ENST00000428437.2_Missense_Mutation_p.E1101K|FAM65A_ENST00000042381.4_Missense_Mutation_p.E1087K|FAM65A_ENST00000422602.2_Missense_Mutation_p.E1107K|FAM65A_ENST00000379312.3_Missense_Mutation_p.E1091K Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 1091 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) ATTGGCGCCCGAGGGGCGTCT 0.622000 8 95 0 0 0.003080 0 0 ATOH8 84913 broad.mit.edu 37 2 85981354 85981354 + Silent SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:85981354C>T ENST00000306279.3 + 1 338 c.42C>T c.(40-42)acC>acT p.T14T NM_032827.6 NP_116216.2 Q96SQ7 ATOH8_HUMAN atonal homolog 8 (Drosophila) 14 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CGTGGAAGACCGTGTGCGTGA 0.692000 4 16 0 0 0.021553 0 0 RPL36A 6173 broad.mit.edu 37 X 100646034 100646034 + Splice_Site SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:100646034G>A ENST00000427805.2 + 1 223 c.111_splice c.e1+1 p.M37_splice RPL36A_ENST00000553110.3_Splice_Site_p.M1_splice|RPL36A-HNRNPH2_ENST00000409170.3_Splice_Site_p.W12_splice NM_021029.5 NP_066357.2 ribosomal protein L36a liver(4)|lung(1)|prostate(1) 6 ACGCAAGCATGGTAGGACTTG 0.582000 OREG0019892 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 112 0 0 0.013537 0 0 PLB1 151056 broad.mit.edu 37 2 28840597 28840597 + Missense_Mutation SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:28840597T>G ENST00000422425.2 + 44 3210 c.3166T>G c.(3166-3168)Tgg>Ggg p.W1056G PLB1_ENST00000541605.1_Missense_Mutation_p.W32G|PLB1_ENST00000327757.5_Missense_Mutation_p.W1067G NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1067 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GATTTAGAACTGGGGCAGTGA 0.463000 25 99 0 0 0.012213 0 0 AFF2 2334 broad.mit.edu 37 X 148037640 148037640 + Missense_Mutation SNP C C A rs140525796 byFrequency TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:148037640C>A ENST00000370460.2 + 11 2544 c.2065C>A c.(2065-2067)Cct>Act p.P689T AFF2_ENST00000370457.5_Missense_Mutation_p.P656T|AFF2_ENST00000342251.3_Missense_Mutation_p.P656T|AFF2_ENST00000286437.5_Missense_Mutation_p.P330T NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 689 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) ACCTAACATCCCTTTGGCTCC 0.488000 15 101 8.60227e-14 1.30937e-13 0.028581 1 0 PTPN5 84867 broad.mit.edu 37 11 18755170 18755170 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:18755170C>G ENST00000396170.1 - 10 2181 c.917G>C c.(916-918)aGa>aCa p.R306T PTPN5_ENST00000396168.1_Missense_Mutation_p.R314T|PTPN5_ENST00000358540.2_Missense_Mutation_p.R338T|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.R306T|PTPN5_ENST00000477854.1_Missense_Mutation_p.R142T|PTPN5_ENST00000396171.4_Missense_Mutation_p.R338T NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 338 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 CAGACACACTCTGCTGTGAGG 0.572000 5 116 0 0 0.014758 0 0 CDH23 64072 broad.mit.edu 37 10 73406352 73406352 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr10:73406352G>T ENST00000224721.6 + 13 1447 c.1442G>T c.(1441-1443)gGg>gTg p.G481V CDH23_ENST00000299366.7_Missense_Mutation_p.G521V|CDH23_ENST00000461841.3_Missense_Mutation_p.G521V|CDH23_ENST00000398842.3_Missense_Mutation_p.G476V|CDH23_ENST00000398809.4_Missense_Mutation_p.G476V NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 476 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTCACCGTGGGGACCTCTGTG 0.562000 24 167 1.99505e-19 3.33154e-19 0.012213 1 0 SP4 6671 broad.mit.edu 37 7 21469643 21469643 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:21469643C>T ENST00000222584.3 + 3 1078 c.860C>T c.(859-861)gCt>gTt p.A287V NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 287 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GGCCAGCCTGCTGCTACTGCT 0.517000 6 87 0 0 0.001984 0 0 OR6Q1 219952 broad.mit.edu 37 11 57799060 57799060 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr11:57799060G>A ENST00000302622.3 + 1 659 c.636G>A c.(634-636)ctG>ctA p.L212L OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) CTGTGCTACTGGCCTCCTCTA 0.547000 16 73 0 0 0.006122 0 0 ITPR1 3708 broad.mit.edu 37 3 4558210 4558210 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr3:4558210G>T ENST00000302640.8 + 3 385 c.35G>T c.(34-36)gGa>gTa p.G12V ITPR1_ENST00000544951.1_Missense_Mutation_p.G12V|ITPR1_ENST00000443694.2_Missense_Mutation_p.G12V|ITPR1_ENST00000357086.4_Missense_Mutation_p.G12V|ITPR1_ENST00000354582.6_Missense_Mutation_p.G12V|ITPR1_ENST00000456211.2_Missense_Mutation_p.G12V|ITPR1_ENST00000423119.2_Missense_Mutation_p.G12V NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 12 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTACATATTGGAGACATTTGT 0.383000 10 117 2.80697e-09 3.99008e-09 0.010729 1 0 PSENEN 55851 broad.mit.edu 37 19 36237385 36237385 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:36237385C>G ENST00000587708.2 + 3 810 c.127C>G c.(127-129)Ctt>Gtt p.L43V PSENEN_ENST00000222266.2_Missense_Mutation_p.L43V|PSENEN_ENST00000591949.1_Missense_Mutation_p.L43V|AC002398.9_ENST00000591613.2_Missense_Mutation_p.L43V Q9NZ42 PEN2_HUMAN presenilin enhancer gamma secretase subunit 43 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane aspartic-type endopeptidase activity|protein binding central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGAGGCCTTCCTTGTCCCAGC 0.527000 15 128 0 0 0.008871 0 0 CDC25C 995 broad.mit.edu 37 5 137622942 137622942 + Silent SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:137622942C>A ENST00000323760.6 - 11 1220 c.942G>T c.(940-942)ctG>ctT p.L314L CDC25C_ENST00000348983.3_Silent_p.L241L|CDC25C_ENST00000415130.2_Silent_p.L241L|CDC25C_ENST00000513970.1_Silent_p.L314L|CDC25C_ENST00000514555.1_Silent_p.L284L|CDC25C_ENST00000357274.3_Silent_p.L271L|CDC25C_ENST00000356505.3_Silent_p.L284L NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 314 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTTCCCCGACAGTAAGGCAG 0.468000 7 78 5.68852e-11 8.43471e-11 0.004482 1 0 AFP 174 broad.mit.edu 37 4 74306346 74306346 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr4:74306346C>A ENST00000395792.2 + 4 398 c.298C>A c.(298-300)Cat>Aat p.H100N AFP_ENST00000226359.2_Missense_Mutation_p.H100N NM_001134.1 NP_001125.1 P02771 FETA_HUMAN alpha-fetoprotein 100 Albumin 1. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAACTTTGCCATGAGAAAGA 0.373000 Alpha-Fetoprotein, Hereditary Persistence of 5 58 0.00116845 0.00132219 0.021553 1 0 RELN 5649 broad.mit.edu 37 7 103202036 103202036 + Missense_Mutation SNP C C G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:103202036C>G ENST00000424685.2 - 36 5631 c.5472G>C c.(5470-5472)gaG>gaC p.E1824D RELN_ENST00000428762.1_Missense_Mutation_p.E1824D|RELN_ENST00000343529.5_Missense_Mutation_p.E1824D P78509 RELN_HUMAN reelin 1824 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GATTCCCCCTCTCTGCACCAT 0.418000 21 152 0 0 0.006320 0 0 XIST 7503 broad.mit.edu 37 X 73062976 73062976 + RNA SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:73062976C>A ENST00000429829.1 - 0 9612 NR_001564.2 TGATAACTGCCATTGTGCCTA 0.463000 7 41 0.000274275 0.000314502 0.004482 1 0 DNASE2B 58511 broad.mit.edu 37 1 84867698 84867698 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:84867698G>A ENST00000370665.3 + 2 273 c.240G>A c.(238-240)atG>atA p.M80I NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 80 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) AGCAACTAATGAATGACACCA 0.373000 5 50 0 0 0.001984 0 0 STK10 6793 broad.mit.edu 37 5 171520788 171520788 + Silent SNP T T G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:171520788T>G ENST00000176763.5 - 9 1525 c.1182A>C c.(1180-1182)ccA>ccC p.P394P NM_005990.3 NP_005981.3 O94804 STK10_HUMAN serine/threonine kinase 10 394 ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GGGCCACGACTGGGGGACTGG 0.632000 10 75 0 0 0.010729 0 0 ZNF783 100289678 broad.mit.edu 37 7 148963690 148963690 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr7:148963690G>T ENST00000434415.1 + 2 452 c.289G>T c.(289-291)Gcc>Tcc p.A97S NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 97 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) GGGCAAGTGGGCCGTGCTGGG 0.627000 14 99 2.31682e-05 2.84638e-05 0.024245 1 0 CSMD2 114784 broad.mit.edu 37 1 34003151 34003151 + Silent SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:34003151G>A ENST00000373381.4 - 61 9866 c.9690C>T c.(9688-9690)ttC>ttT p.F3230F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3209 Sushi 26. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACCTGTAGGAGAAGCCTCGGT 0.602000 4 65 0 0 0.009096 0 0 SH3YL1 26751 broad.mit.edu 37 2 233146 233146 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:233146G>C ENST00000403657.1 - 9 2395 c.200C>G c.(199-201)tCt>tGt p.S67C SH3YL1_ENST00000468321.1_5'UTR|SH3YL1_ENST00000415006.2_Missense_Mutation_p.S67C|SH3YL1_ENST00000405430.1_Missense_Mutation_p.S163C|SH3YL1_ENST00000403712.2_Missense_Mutation_p.S163C|SH3YL1_ENST00000403658.1_Missense_Mutation_p.S67C|SH3YL1_ENST00000356150.5_Missense_Mutation_p.S163C Q96HL8 SH3Y1_HUMAN SH3 and SYLF domain containing 1 163 large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 7 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.034) all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148) CCCTTCTAAAGACACGCCTGC 0.423000 6 38 0 0 0.006214 0 0 NES 10763 broad.mit.edu 37 1 156641024 156641024 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:156641024C>T ENST00000368223.3 - 4 3088 c.2956G>A c.(2956-2958)Gat>Aat p.D986N NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 986 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTGAAGCCATCCTGCTCCCTC 0.592000 11 525 0 0 0.028581 0 0 NALCN 259232 broad.mit.edu 37 13 101712256 101712256 + Missense_Mutation SNP G G A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr13:101712256G>A ENST00000251127.6 - 42 4900 c.4819C>T c.(4819-4821)Cgg>Tgg p.R1607W NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1607 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTCAGAAACCGGCTCAGCTCT 0.532000 8 133 0 0 0.004482 0 0 RGN 9104 broad.mit.edu 37 X 46951083 46951083 + Missense_Mutation SNP G G A rs147490967 byFrequency TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:46951083G>A ENST00000397180.1 + 6 1538 c.569G>A c.(568-570)cGc>cAc p.R190H RGN_ENST00000352078.4_Missense_Mutation_p.R190H|RGN_ENST00000457380.1_Missense_Mutation_p.R118H|RGN_ENST00000336169.3_Missense_Mutation_p.R190H NM_152869.2 NP_690608.1 Q15493 RGN_HUMAN regucalcin 190 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 9 ATAGCCAACCGCAGAAGTGTT 0.428000 11 64 0 0 0.028581 0 0 PIK3R6 146850 broad.mit.edu 37 17 8731998 8731998 + Missense_Mutation SNP G G T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:8731998G>T ENST00000311434.9 - 11 1438 c.1199C>A c.(1198-1200)cCc>cAc p.P400H PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 400 platelet activation cytosol ATCCCCACTGGGCCGGCCTGT 0.692000 5 20 0.0215528 0.0231692 0.021553 1 0 PLEC 5339 broad.mit.edu 37 8 144993590 144993590 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr8:144993590C>A ENST00000322810.4 - 32 10979 c.10810G>T c.(10810-10812)Gcc>Tcc p.A3604S PLEC_ENST00000354589.3_Missense_Mutation_p.A3467S|PLEC_ENST00000354958.2_Missense_Mutation_p.A3445S|PLEC_ENST00000436759.2_Missense_Mutation_p.A3494S|PLEC_ENST00000398774.2_Missense_Mutation_p.A3435S|PLEC_ENST00000345136.3_Missense_Mutation_p.A3467S|PLEC_ENST00000527096.1_Missense_Mutation_p.A3490S|PLEC_ENST00000357649.2_Missense_Mutation_p.A3471S|PLEC_ENST00000356346.3_Missense_Mutation_p.A3453S NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 3604 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GCGATCTGGGCCTCCAGCAGG 0.667000 9 60 3.09899e-07 4.13198e-07 0.004482 1 0 AP1B1 162 broad.mit.edu 37 22 29754807 29754807 + Missense_Mutation SNP C C A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr22:29754807C>A ENST00000357586.2 - 5 619 c.433G>T c.(433-435)Gtg>Ttg p.V145L AP1B1_ENST00000317368.7_Missense_Mutation_p.V145L|AP1B1_ENST00000405198.1_Missense_Mutation_p.V145L|AP1B1_ENST00000402502.1_Missense_Mutation_p.V145L|AP1B1_ENST00000356015.2_Missense_Mutation_p.V145L|AP1B1_ENST00000415447.1_Missense_Mutation_p.V145L|AP1B1_ENST00000432560.2_Missense_Mutation_p.V145L NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 145 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 AGCTTGGCCACGCACACAGCT 0.577000 7 48 2.17888e-05 2.69616e-05 0.006214 1 0 MDH1B 130752 broad.mit.edu 37 2 207621963 207621963 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:207621963G>C ENST00000374412.3 - 3 543 c.268C>G c.(268-270)Cag>Gag p.Q90E MDH1B_ENST00000392214.2_Missense_Mutation_p.Q90E|MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Missense_Mutation_p.Q90E NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 90 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TTATATACCTGAGCATGCTCC 0.368000 20 87 0 0 0.016522 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999372 27999372 + Missense_Mutation SNP G G C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chrX:27999372G>C ENST00000441525.1 - 1 194 c.80C>G c.(79-81)tCt>tGt p.S27C NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 27 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 TGCTACTCCAGACTGCTCCTC 0.567000 10 45 0 0 0.013537 0 0 CELF3 11189 broad.mit.edu 37 1 151681551 151681551 + Missense_Mutation SNP A A T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:151681551A>T ENST00000290583.4 - 5 1202 c.409T>A c.(409-411)Tgc>Agc p.C137S CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.C137S NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 137 RRM 2. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 ACGAAGGCGCAGCCTGGAGAG 0.667000 17 115 0 0 0.014323 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822805 26822805 + Missense_Mutation SNP A A G TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:26822805A>G ENST00000444914.3 + 10 2008 c.1588A>G c.(1588-1590)Acg>Gcg p.T530A SLC13A2_ENST00000537681.1_Missense_Mutation_p.T410A|SLC13A2_ENST00000545060.1_Missense_Mutation_p.T438A|SLC13A2_ENST00000314669.5_Missense_Mutation_p.T481A NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 481 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GGCCACCACTACGATCTTCCT 0.637000 29 185 0 0 0.021022 0 0 VNN2 8875 broad.mit.edu 37 6 133078815 133078815 + Missense_Mutation SNP C C T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr6:133078815C>T ENST00000326499.6 - 1 332 c.208G>A c.(208-210)Gag>Aag p.E70K VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.E70K|VNN2_ENST00000525270.1_Missense_Mutation_p.E17K NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 70 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) AATACCTGCTCAGCTGCCTGC 0.433000 4 78 0 0 0.009096 0 0 RSPO1 284654 broad.mit.edu 37 1 38078467 38078469 + In_Frame_Del DEL TGC TGC - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:38078467_38078469delTGC ENST00000356545.2 - 8 1537_1539 c.750_752delGCA c.(748-753)caa>ca p.QQ250del RSPO1_ENST00000401070.1_In_Frame_Del_p.QQ187del|RSPO1_ENST00000373059.1_In_Frame_Del_p.QQ223del|RSPO1_ENST00000401068.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401069.1_In_Frame_Del_p.QQ250del|RSPO1_ENST00000401071.2_In_Frame_Del_p.QQ187del NM_001038633.3 NP_001033722.1 Q2MKA7 RSPO1_HUMAN R-spondin 1 250 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACTGTCCCTTGCTGCTGCTGCT 0.621 7 243 --- --- --- --- SLAMF6 114836 broad.mit.edu 37 1 160458940 160458940 + Frame_Shift_Del DEL C C - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr1:160458940delC ENST00000368059.3 - 6 883 c.814delG c.(814-816)agfs p.E272fs SLAMF6_ENST00000368057.3_Frame_Shift_Del_p.E273fs|SLAMF6_ENST00000368055.1_Frame_Shift_Del_p.E162fs NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 273 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GAAACATACTCTAGGTTCCTT 0.473 19 167 --- --- --- --- LOC728730 728730 broad.mit.edu 37 2 39791858 39791860 + RNA DEL TGC TGC - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr2:39791858_39791860delTGC ENST00000449569.1 + 0 538 AC007246.3_ENST00000451547.1_RNA|AC007246.3_ENST00000446698.1_RNA|AC007246.3_ENST00000415640.1_RNA|AC007246.3_ENST00000438649.1_RNA|AC007246.3_ENST00000425775.1_RNA|AC007246.3_ENST00000426083.1_RNA|AC007246.3_ENST00000422128.1_RNA NR_037875.1 tatagaagggtgctgctgctgct 0.601 2 4 --- --- --- --- RICTOR 253260 broad.mit.edu 37 5 38942422 38942423 + Frame_Shift_Ins INS - - T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:38942422_38942423insT ENST00000357387.3 - 38 5140_5141 c.5110_5111insA c.(5110-5112)atcfs p.I1704fs RICTOR_ENST00000296782.5_Frame_Shift_Ins_p.I1728fs NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1704 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTCAGCAGATGTATCAACTATA 0.347 14 209 --- --- --- --- C6 729 broad.mit.edu 37 5 41201800 41201801 + Frame_Shift_Ins INS - - A TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr5:41201800_41201801insA ENST00000263413.3 - 3 423_424 c.159_160insT c.(157-162)gaagtafs p.EV53fs C6_ENST00000337836.5_Frame_Shift_Ins_p.EV53fs NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 53 TSP type-1 1. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TGGTAGTACTTATCTACTACTA 0.391 41 94 --- --- --- --- MTAP 4507 broad.mit.edu 37 9 21816764 21816765 + Frame_Shift_Ins INS - - T TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr9:21816764_21816765insT ENST00000380172.4 + 3 378_379 c.172_173insT c.(172-174)tgcfs p.C58fs RP11-145E5.5_ENST00000404796.2_Frame_Shift_Ins_p.C58fs|MTAP_ENST00000427788.2_3'UTR|MTAP_ENST00000580900.1_Frame_Shift_Ins_p.C58fs|MTAP_ENST00000460874.2_Frame_Shift_Ins_p.C75fs NM_002451.3 NP_002442.2 Q13126 MTAP_HUMAN methylthioadenosine phosphorylase 58 nucleoside metabolic process cytoplasm phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity p.0(1)|p.0?(1) central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1) 10 all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173) GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15) Adenine(DB00173) TTGCGTCCTCCTTGCAAGGTAT 0.322 57 218 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396277 + RNA DEL G G - rs148140777 by1000genomes TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr10:118396277delG ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTT 0.423 3 5 --- --- --- --- DHX32 55760 broad.mit.edu 37 10 127548457 127548461 + Frame_Shift_Del DEL ATGAA ATGAA - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr10:127548457_127548461delATGAA ENST00000284690.3 - 3 1050_1054 c.560_564delTTCAT c.(559-564)afs p.IH187fs DHX32_ENST00000284688.6_Frame_Shift_Del_p.IH187fs NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 187 Helicase ATP-binding. mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGCTTCTTTCATGAATATCATCTAA 0.366 9 65 --- --- --- --- HSF4 3299 broad.mit.edu 37 16 67201666 67201666 + Frame_Shift_Del DEL G G - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr16:67201666delG ENST00000264009.8 + 11 1863 c.898delG c.(898-900)ggfs p.G301fs HSF4_ENST00000584272.1_Intron|HSF4_ENST00000521374.1_Frame_Shift_Del_p.G301fs|HSF4_ENST00000421453.1_Intron NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 301 Interactions with DUSP26, MAPK1 and MAPK2. response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.D302fs*14(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GGCCAGTCCAGGGGGGGATGG 0.647 2 4 --- --- --- --- MSL1 339287 broad.mit.edu 37 17 38290535 38290535 + Frame_Shift_Del DEL T T - TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr17:38290535delT ENST00000398532.3 + 9 2073 c.1758delT c.(1756-1758)aafs p.N586fs MSL1_ENST00000579565.1_Frame_Shift_Del_p.N323fs|MSL1_ENST00000578648.1_Frame_Shift_Del_p.N570fs Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) 586 histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 TTGCCAGGAATTTTGAGCTAC 0.463 2 4 --- --- --- --- PRR12 57479 broad.mit.edu 37 19 50098807 50098808 + Frame_Shift_Ins INS - - C TCGA-93-7347-01A-11D-2184-08 TCGA-93-7347-10A-01D-2184-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98ed5f8c-bc0b-47ac-aee7-456fda144cb2 4b1d71f3-ddc2-47c7-9b49-4c92b6cfb713 g.chr19:50098807_50098808insC ENST00000418929.2 + 4 1227_1228 c.1215_1216insC c.(1213-1218)agccccfs p.SP405fs NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 145 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GTGCCACCAGGCCCCCCCCACC 0.688 2 4 --- --- --- ---