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 PTPRO 5800 broad.mit.edu 37 12 15742420 15742420 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:15742420G>A ENST00000281171.4 + 25 3772 c.3442G>A c.(3442-3444)Gcc>Acc p.A1148T PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1148 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AACATTCATTGCCCTGGACAG 0.468000 47 105 0 0 1 0 0 PNLIP 5406 broad.mit.edu 37 10 118307881 118307881 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr10:118307881G>A ENST00000369221.2 + 4 239 c.211G>A c.(211-213)Gca>Aca p.A71T PNLIP_ENST00000470562.1_3'UTR NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 71 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GGAAGTTGCCGCAGATTCATC 0.403000 35 71 0 0 1 0 0 CNOT2 4848 broad.mit.edu 37 12 70735908 70735908 + Silent SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:70735908G>T ENST00000551483.1 + 3 4308 c.153G>T c.(151-153)gcG>gcT p.A51A CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000418359.3_Silent_p.A400A Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 400 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1) 20 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CCAAATTTGCGTCACCCTGGG 0.338000 4 102 1.23904e-05 1.34375e-05 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846020 18846020 + RNA SNP T T C rs1064861 TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr22:18846020T>C ENST00000412938.1 + 0 3378 TCACTGACGTTGAAGGCTGCC 0.637000 4 85 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6649894 6649894 + Missense_Mutation SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:6649894G>C ENST00000299441.3 - 13 5740 c.5329C>G c.(5329-5331)Cca>Gca p.P1777A NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1777 Cadherin 17. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCACATCTGGATCAGAGGCC 0.567000 23 42 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616490 77616490 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:77616490G>A ENST00000521891.2 + 2 615 c.167G>A c.(166-168)cGc>cAc p.R56H ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 56 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACGGATGAGCGCAAAAGTGAA 0.498000 HNSCC(33;0.089) 9 79 0 0 1 0 0 MIOS 54468 broad.mit.edu 37 7 7613322 7613322 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr7:7613322A>G ENST00000340080.4 + 4 1637 c.1216A>G c.(1216-1218)Aca>Gca p.T406A MIOS_ENST00000405785.1_Missense_Mutation_p.T406A NM_019005.3 NP_061878.3 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog (Drosophila) 406 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGGACTTGATACAGAGCAGGT 0.373000 5 81 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 35 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156704062 156704062 + Nonsense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:156704062C>T ENST00000368216.4 + 6 1528 c.898C>T c.(898-900)Cag>Tag p.Q300* RRNAD1_ENST00000368218.4_Intron|RRNAD1_ENST00000476229.1_Intron NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 300 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 CCCACTGAGTCAGTGGGTGGC 0.627000 8 43 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106838328 106838328 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:106838328G>A ENST00000228347.4 + 19 2265 c.2043G>A c.(2041-2043)ccG>ccA p.P681P POLR3B_ENST00000539066.1_Silent_p.P623P NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 681 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 ACCAGTCACCGAGAAACACTT 0.443000 13 29 0 0 1 0 0 ARHGEF1 0 broad.mit.edu 37 19 42392871 42392871 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:42392871C>T ENST00000599846.1 + 4 285 c.160C>T c.(160-162)Cgg>Tgg p.R54W ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000596957.1_Intron|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R54W Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 54 RGSL. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) GCAGGTGAAGCGGCGCCCAGC 0.647000 25 36 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389662 48389662 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr10:48389662C>T ENST00000224600.4 - 1 1329 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 406 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.E406K(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGTGAGTCTTCGGCTGCAGCG 0.652000 4 45 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145664215 145664215 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr5:145664215C>T ENST00000265271.5 + 20 3185 c.3019C>T c.(3019-3021)Cgt>Tgt p.R1007C RBM27_ENST00000506502.1_Intron NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 1007 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTAAAGACCGTCGGCTACA 0.378000 49 69 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538088 55538088 + Missense_Mutation SNP T T C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:55538088T>C ENST00000220676.1 + 4 1794 c.1646T>C c.(1645-1647)gTt>gCt p.V549A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 549 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGTGCTGGTGTTATAGAAATT 0.333000 19 33 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53079446 53079446 + Silent SNP C C G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:53079446C>G ENST00000276480.7 - 11 1853 c.1170G>C c.(1168-1170)tcG>tcC p.S390S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 390 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S390S(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGGGGCACCCCGAAAGGCTGC 0.562000 10 82 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 9 71 0 0 1 0 0 RCL1 10171 broad.mit.edu 37 9 4834198 4834198 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr9:4834198G>A ENST00000381750.4 + 5 740 c.517G>A c.(517-519)Gtg>Atg p.V173M NM_005772.3 NP_005763.3 Q9Y2P8 RCL1_HUMAN RNA terminal phosphate cyclase-like 1 173 ribosome biogenesis|RNA processing nucleolus RNA-3'-phosphate cyclase activity breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0244) CTCATGTCCTGTGAGGAAGGT 0.463000 17 18 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3141832 3141832 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:3141832G>A ENST00000520002.1 - 27 4545 c.3990C>T c.(3988-3990)caC>caT p.H1330H CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000537824.1_Silent_p.H1329H|CSMD1_ENST00000523387.1_5'UTR Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1330 CUB 8. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAGGATGTCGTGAGCCATCT 0.567000 OREG0018505 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 29 0 0 1 0 0 ZNF35 7584 broad.mit.edu 37 3 44700678 44700678 + Missense_Mutation SNP C C A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr3:44700678C>A ENST00000396056.2 + 4 1058 c.823C>A c.(823-825)Cag>Aag p.Q275K ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K NM_003420.3 NP_003411.3 P13682 ZNF35_HUMAN zinc finger protein 35 275 cellular response to retinoic acid|spermatogenesis nucleus|perinuclear region of cytoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 Ovarian(412;0.0228) OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) CCACACTGGACAGAAACCTTA 0.423000 4 60 0.000602214 0.000644035 1 1 0 TULP2 7288 broad.mit.edu 37 19 49387100 49387100 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:49387100C>T ENST00000221399.3 - 11 1330 c.1186G>A c.(1186-1188)Gtc>Atc p.V396I NM_003323.2 NP_003314.2 O00295 TULP2_HUMAN tubby like protein 2 396 visual perception cytoplasm|extracellular region NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 22 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) TATCCTAAGACGTTGGGCTCC 0.517000 9 42 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465273 70465273 + Nonsense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chrX:70465273G>A ENST00000373998.1 - 18 3584 c.2887C>T c.(2887-2889)Cga>Tga p.R963* ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977* NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 975 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) ACATCATCTCGAGCAGGCCCA 0.532000 10 9 0 0 1 0 0 VWA3A 146177 broad.mit.edu 37 16 22132353 22132353 + Missense_Mutation SNP C C A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:22132353C>A ENST00000389398.5 + 13 1277 c.1181C>A c.(1180-1182)gCt>gAt p.A394D VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 394 extracellular region haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) AAGCATGACGCTCCTCTCACC 0.443000 5 61 0.014758 0.0151515 1 1 0 CIAPIN1 57019 broad.mit.edu 37 16 57468061 57468061 + Missense_Mutation SNP T T A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:57468061T>A ENST00000394391.4 - 5 692 c.451A>T c.(451-453)Agt>Tgt p.S151C CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C NM_020313.2 NP_064709.2 Q6FI81 CPIN1_HUMAN cytokine induced apoptosis inhibitor 1 151 anti-apoptosis|apoptosis cytoplasm|nucleolus cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 AGGTTGTCACTTTCATGACCA 0.463000 16 96 0 0 1 0 0 KDM4E 390245 broad.mit.edu 37 11 94759491 94759491 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:94759491C>T ENST00000450979.2 + 1 1070 c.770C>T c.(769-771)cCc>cTc p.P257L NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 257 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 AATGGGATTCCCTTCAATTGC 0.547000 10 30 0 0 1 0 0 SUGP1 57794 broad.mit.edu 37 19 19431287 19431287 + Missense_Mutation SNP T T A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:19431287T>A ENST00000247001.5 - 1 366 c.19A>T c.(19-21)Aac>Tac p.N7Y SUGP1_ENST00000334782.5_Missense_Mutation_p.N7Y|SUGP1_ENST00000585763.1_5'UTR NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 7 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 ACATCCCGGTTGTCCATCTTG 0.632000 28 81 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49299745 49299745 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:49299745G>A ENST00000402551.1 - 11 1580 c.960C>T c.(958-960)ccC>ccT p.P320P BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000316273.6_Silent_p.P360P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000597011.1_Silent_p.P320P O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 360 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TTTCCATGGTGGGAATGTGGA 0.607000 33 78 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57111547 57111547 + Missense_Mutation SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:57111547G>C ENST00000454682.1 - 3 4048 c.3767C>G c.(3766-3768)gCt>gGt p.A1256G NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGTGGGGTAGCTGGGCCTCC 0.657000 T BCL6 NHL 5 78 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27677277 27677277 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr2:27677277G>A ENST00000260570.3 - 32 3577 c.3474C>T c.(3472-3474)ttC>ttT p.F1158F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1158 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGCCTCTTCGAATTTACCCT 0.522000 24 67 0 0 1 0 0 PCDHB15 0 broad.mit.edu 37 5 140627360 140627360 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr5:140627360C>T ENST00000231173.3 + 1 2214 c.2214C>T c.(2212-2214)gaC>gaT p.D738D NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 738 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGGTGGACGTGAGCGGCA 0.602000 5 180 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319509 70319509 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:70319509C>T ENST00000338508.4 - 33 5017 c.5018G>A c.(5017-5019)cGg>cAg p.R1673Q SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1293Q Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1293 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CGTCGTGCTCCGTGTACCTGA 0.597000 11 50 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85441793 85441793 + Silent SNP C C G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr8:85441793C>G ENST00000521268.1 + 2 1342 c.237C>G c.(235-237)gtC>gtG p.V79V RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V|RALYL_ENST00000521695.1_Silent_p.V79V NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 79 RRM. identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 ATGCCAGAGTCATCGCCGGCC 0.428000 3 39 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810767 7810767 + Missense_Mutation SNP G G A rs146082308 TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:7810767G>A ENST00000315599.7 - 4 407 c.385C>T c.(385-387)Cgg>Tgg p.R129W CD209_ENST00000601256.1_Missense_Mutation_p.R105W|CD209_ENST00000315591.8_Missense_Mutation_p.R105W|CD209_ENST00000601951.1_Missense_Mutation_p.R105W|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R129W|CD209_ENST00000593660.1_Missense_Mutation_p.R105W|CD209_ENST00000394161.5_Intron|CD209_ENST00000204801.8_Missense_Mutation_p.R85W|CD209_ENST00000301357.8_Missense_Mutation_p.R85W|CD209_ENST00000593821.1_Missense_Mutation_p.R85W|CD209_ENST00000354397.6_Missense_Mutation_p.R129W NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 129 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding p.R129W(4) endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 GCCTTCAGCCGGGTCAGCTCC 0.567000 7 189 0 0 1 0 0 C16orf80 29105 broad.mit.edu 37 16 58149203 58149203 + Silent SNP G G C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:58149203G>C ENST00000262498.3 - 4 769 c.435C>G c.(433-435)ggC>ggG p.G145G C16orf80_ENST00000562443.1_5'UTR NM_013242.2 NP_037374.1 Q9Y6A4 CP080_HUMAN chromosome 16 open reading frame 80 145 multicellular organismal development kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TGTAATTGGTGCCGTATGCTC 0.552000 54 91 0 0 1 0 0 NBEAP1 0 broad.mit.edu 37 15 20876556 20876556 + RNA SNP A A T rs58887402 by1000genomes TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:20876556A>T ENST00000556948.1 - 0 44 CAAAAGATAAAAATTGCTCCA 0.318000 8 60 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117484587 117484587 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:117484587C>T ENST00000393203.2 + 2 447 c.300C>T c.(298-300)gaC>gaT p.D100D NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 100 Ig-like C2-type 1. endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CTGCCAACGACGCCGTGGAGC 0.587000 9 45 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57565238 57565238 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:57565238G>A ENST00000267811.5 + 18 1988 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 562 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) CAGTACTAATGAAGATGAGGA 0.388000 T TEC extraskeletal myxoid chondrosarcoma 8 18 0 0 1 0 0 APLF 200558 broad.mit.edu 37 2 68765198 68765198 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr2:68765198C>T ENST00000303795.4 + 7 1170 c.999C>T c.(997-999)ggC>ggT p.G333G APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 333 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 GTGCCCAGGGCGACTCACTTC 0.423000 6 54 0 0 1 0 0 CENPJ 55835 broad.mit.edu 37 13 25466996 25466996 + Missense_Mutation SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr13:25466996G>T ENST00000381884.4 - 10 3186 c.3001C>A c.(3001-3003)Cag>Aag p.Q1001K CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K NM_018451.4 NP_060921.3 Q9HC77 CENPJ_HUMAN centromere protein J 1001 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GCTATTTGCTGTTTTAAAGTC 0.333000 7 56 0.248553 0.248553 1 1 0 CPXM2 119587 broad.mit.edu 37 10 125506294 125506294 + Nonsense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr10:125506294G>A ENST00000241305.3 - 14 2411 c.2257C>T c.(2257-2259)Cga>Tga p.R753* CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 753 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) CCACGCTGTCGTCTCTTCTGC 0.577000 7 73 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25950427 25950427 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:25950427A>G ENST00000578981.1 + 2 327 c.149A>G c.(148-150)tAt>tGt p.Y50C KSR1_ENST00000398988.3_3'UTR|KSR1_ENST00000582410.1_3'UTR|KSR1_ENST00000319524.6_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 0 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGCCAGCCATATGGTTTTTCG 0.463000 5 16 0 0 1 0 0 RNASE7 84659 broad.mit.edu 37 14 21511516 21511516 + Missense_Mutation SNP A A G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr14:21511516A>G ENST00000298690.4 + 2 622 c.365A>G c.(364-366)aAa>aGa p.K122R NDRG2_ENST00000403829.3_Intron NM_032572.3 NP_115961.2 Q9H1E1 RNAS7_HUMAN ribonuclease, RNase A family, 7 122 defense response to bacterium|innate immune response extracellular region nucleic acid binding|pancreatic ribonuclease activity endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 6 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08) GBM - Glioblastoma multiforme(265;0.0191) TGCAGGTACAAAGAGAAGCGA 0.532000 15 134 0 0 1 0 0 TFAP4 7023 broad.mit.edu 37 16 4310115 4310115 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:4310115C>T ENST00000204517.6 - 6 1126 c.798G>A c.(796-798)cgG>cgA p.R266R NM_003223.2 NP_003214.1 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer binding protein 4) 266 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 14 CCAGATTTTGCCGGGATGTGG 0.582000 4 95 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) atcaaagaaggaaagaagaag 0.423000 4 40 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30735202 30735202 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr22:30735202G>A ENST00000439242.1 - 10 1350 c.1219C>T c.(1219-1221)Cgg>Tgg p.R407W SF3A1_ENST00000215793.7_Missense_Mutation_p.R472W NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 472 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TCAGTACGCCGCTCAGCCAAC 0.483000 67 91 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722258 56722258 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr12:56722258G>A ENST00000425394.2 - 3 826 c.450C>T c.(448-450)taC>taT p.Y150Y PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 150 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCACTTACAGGTAATCAAATA 0.502000 4 155 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8526221 8526221 + Splice_Site SNP T T G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:8526221T>G ENST00000360416.3 - 2 482 c.345_splice c.e2+1 p.Y115_splice MYH10_ENST00000379980.4_Splice_Site_p.Y115_splice|MYH10_ENST00000269243.4_Splice_Site_p.Y115_splice|MYH10_ENST00000396239.1_Splice_Site_p.Y115_splice NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 115 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AATACTTACATAGATTAGTCC 0.348000 12 24 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12129647 12129647 + Silent SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr10:12129647C>T ENST00000263035.4 + 4 698 c.636C>T c.(634-636)agC>agT p.S212S DHTKD1_ENST00000465617.1_3'UTR NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 212 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) CGGCCTACAGCGGGATCACTG 0.517000 16 27 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130289977 130289977 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr3:130289977G>A ENST00000358511.6 + 6 2748 c.2717G>A c.(2716-2718)cGc>cAc p.R906H COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 906 Nonhelical region.|VWFA 5. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGGGCAGCCGCCTGAACAAG 0.547000 5 18 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15662136 15662136 + Nonsense_Mutation SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:15662136G>T ENST00000269703.2 + 14 1649 c.1450G>T c.(1450-1452)Gag>Tag p.E484* CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484* NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 484 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 CGCCATGGCCGAGTTGCGCGT 0.637000 14 15 1.3612e-06 1.49732e-06 1 1 0 MUC16 94025 broad.mit.edu 37 19 9064272 9064272 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:9064272G>A ENST00000397910.4 - 3 23377 c.23174C>T c.(23173-23175)cCg>cTg p.P7725L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7727 Ser-rich.|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 GGTTGTCGCCGGGCCAGAGGT 0.517000 4 63 0 0 1 0 0 OIP5 11339 broad.mit.edu 37 15 41624630 41624630 + Missense_Mutation SNP C C T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:41624630C>T ENST00000220514.3 - 1 189 c.130G>A c.(130-132)Gtg>Atg p.V44M NM_007280.1 NP_009211.1 O43482 MS18B_HUMAN Opa interacting protein 5 44 cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis Cajal body|chromatin|chromosome, centromeric region protein binding endometrium(3)|lung(1)|urinary_tract(1) 5 all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175) OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163) GACCCCTTCACCACCTGCGTA 0.672000 5 142 0 0 1 0 0 RP11-566K19.6 0 broad.mit.edu 37 15 23108883 23108883 + RNA SNP T T C rs3178813 by1000genomes TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:23108883T>C ENST00000557922.1 - 0 246 NR_040057.1 TTCGACACTATCATCTGCAGA 0.378000 4 33 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220170573 220170573 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr1:220170573G>A ENST00000366923.3 - 18 2562 c.2293C>T c.(2293-2295)Cgt>Tgt p.R765C EPRS_ENST00000464052.1_5'UTR NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 765 3 X 57 AA approximate repeats.|WHEP-TRS 1. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTTAATTCACGAACCACATCT 0.388000 31 55 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78381219 78381219 + Silent SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:78381219G>A ENST00000278550.7 - 32 6633 c.6171C>T c.(6169-6171)taC>taT p.Y2057Y NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CAATCTGACGGTAGCGGATGG 0.532000 3 32 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77718143 77718143 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr14:77718143G>A ENST00000298351.4 + 22 2194 c.2050G>A c.(2050-2052)Gcc>Acc p.A684T NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 684 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TTCTCTCCACGCCATCACCAT 0.567000 29 90 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794476 15794476 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:15794476G>A ENST00000550308.1 + 7 1201 c.821G>A c.(820-822)cGg>cAg p.R274Q CYP4F12_ENST00000324632.9_Missense_Mutation_p.R274Q NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) ATCCGGGAGCGGCGTCGCACC 0.537000 33 99 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76496390 76496390 + Nonsense_Mutation SNP G G T TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:76496390G>T ENST00000389840.5 - 36 5719 c.5595C>A c.(5593-5595)taC>taA p.Y1865* DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874* dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGCGTACCTTGTAGTCCATCT 0.612000 4 19 0.00909568 0.00946442 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1258365 1258365 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr11:1258365G>A ENST00000447027.1 + 25 3335 c.3277G>A c.(3277-3279)Ggc>Agc p.G1093S MUC5B_ENST00000529681.1_Missense_Mutation_p.G1090S Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1090 VWFD 3. 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) CATCCTCCACGGCCCCACCTT 0.697000 4 28 0 0 1 0 0 KLK13 26085 broad.mit.edu 37 19 51563757 51563757 + Missense_Mutation SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr19:51563757G>A ENST00000595793.1 - 2 214 c.172C>T c.(172-174)Cgg>Tgg p.R58W KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Missense_Mutation_p.R58W|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 58 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) CAGAGTAGCCGCCCTTGCACT 0.617000 25 80 0 0 1 0 0 ACAA2 10449 broad.mit.edu 37 18 47311571 47311571 + Missense_Mutation SNP A A C TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr18:47311571A>C ENST00000285093.10 - 9 1580 c.1105T>G c.(1105-1107)Tta>Gta p.L369V ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V|ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 369 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 AAATACCTTAATTCGTGAACC 0.398000 4 65 0 0 1 0 0 HSF4 3299 broad.mit.edu 37 16 67199716 67199716 + Silent SNP C C G TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:67199716C>G ENST00000264009.8 + 5 1292 c.327C>G c.(325-327)ggC>ggG p.G109G HSF4_ENST00000521374.1_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000421453.1_Silent_p.G109G NM_001040667.2 NP_001035757.1 Q9ULV5 HSF4_HUMAN heat shock transcription factor 4 109 response to stress nucleus sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.G109G(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) TCGTGCGCGGCCGCGAGCAGC 0.692000 6 40 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 5 33 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764636 110764637 + Frame_Shift_Ins INS - - A TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr7:110764636_110764637insA ENST00000451085.1 + 4 2854_2855 c.1808_1809insA c.(1807-1809)aaafs p.K603fs IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000447215.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 603 Fibronectin type-III. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) CAGAAAAACAGAAAAAAATGTG 0.356 8 26 --- --- --- --- PIGB 9488 broad.mit.edu 37 15 55631517 55631517 + Splice_Site DEL G G - TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:55631517delG ENST00000164305.5 + 7 1137 c.e7+1 PIGB_ENST00000539642.1_Splice_Site NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) TTTTGGCCAAGTAAGTAAAAG 0.284 2 4 --- --- --- --- HCN4 10021 broad.mit.edu 37 15 73660496 73660496 + Frame_Shift_Del DEL C C - TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr15:73660496delC ENST00000261917.3 - 1 1109 c.116delG c.(115-117)gcfs p.G39fs NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 39 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GTCTTGGCGGCCCCCGGCCCC 0.751 2 4 --- --- --- --- SLC38A7 55238 broad.mit.edu 37 16 58706128 58706128 + Frame_Shift_Del DEL G G - TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr16:58706128delG ENST00000570101.1 - 8 1786 c.903delC c.(901-903)acfs p.T301fs SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs|SLC38A7_ENST00000566953.1_5'UTR Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 301 amino acid transport|sodium ion transport integral to membrane endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 13 CAGCTCCAAAGGTCAGGAAGC 0.612 2 4 --- --- --- --- UNK 85451 broad.mit.edu 37 17 73780852 73780852 + Frame_Shift_Del DEL G G - TCGA-KK-A6E2-01A-11D-A30X-08 TCGA-KK-A6E2-11A-21D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx de2a74cb-41dc-42b1-831b-160074fee3b9 f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb g.chr17:73780852delG ENST00000293218.3 + 2 119 c.119delG c.(118-120)tgfs p.W40fs H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCTGCCGTGTGGGGGGTCTTC 0.617 7 28 --- --- --- ---