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 CPE 1363 broad.mit.edu 37 4 166405633 166405633 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr4:166405633G>A ENST00000402744.4 + 5 1130 c.850G>A c.(850-852)Gca>Aca p.A284T NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 284 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding p.A284T(1) endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 26 all_hematologic(180;0.221) Prostate(90;0.0962)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.137) Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTGGCCCGGGCATACTCTTC 0.498000 7 527 0 0 0.047766 0 0 RABL6 55684 broad.mit.edu 37 9 139733836 139733836 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr9:139733836G>A ENST00000371675.3 + 12 2196 c.1311G>A c.(1309-1311)tcG>tcA p.S437S RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Silent_p.S553S|RABL6_ENST00000311502.7_Silent_p.S552S RAB, member RAS oncogene family-like 6 AGGCCTCCTCGTCGGAGAGTG 0.642000 6 32 0 0 0.021553 0 0 APPBP2 10513 broad.mit.edu 37 17 58539389 58539389 + Missense_Mutation SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:58539389C>T ENST00000083182.3 - 7 1083 c.796G>A c.(796-798)Gaa>Aaa p.E266K APPBP2_ENST00000592995.1_5'UTR NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 266 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) ATTAACTGTTCTGCCTTCTTA 0.289000 4 241 0 0 0.009096 0 0 KIF4B 285643 broad.mit.edu 37 5 154395057 154395057 + Silent SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr5:154395057C>T ENST00000435029.4 + 1 1798 c.1638C>T c.(1636-1638)aaC>aaT p.N546N NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 546 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGACTCAGAACGACAACCAAC 0.418000 22 50 0 0 0.055883 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142500590 142500590 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr5:142500590G>A ENST00000378004.3 + 18 1931 c.1576G>A c.(1576-1578)Gca>Aca p.A526T ARHGAP26_ENST00000274498.4_Missense_Mutation_p.A526T NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 526 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATGACGGTGGCAAACCTTGG 0.453000 4 206 0 0 0.014758 0 0 GALNT16 57452 broad.mit.edu 37 14 69795278 69795278 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:69795278G>A ENST00000337827.4 + 6 1007 c.680G>A c.(679-681)cGg>cAg p.R227Q GALNT16_ENST00000553669.1_Missense_Mutation_p.R227Q|GALNT16_ENST00000448469.3_Missense_Mutation_p.R227Q NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 ATGCTGCAGCGGGTGAAGGAG 0.622000 24 62 0 0 0.041601 0 0 CEP192 55125 broad.mit.edu 37 18 13068880 13068880 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr18:13068880G>A ENST00000506447.1 + 25 4932 c.4852G>A c.(4852-4854)Gca>Aca p.A1618T CEP192_ENST00000430049.2_Missense_Mutation_p.A1143T|CEP192_ENST00000325971.8_Missense_Mutation_p.A1022T NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1213 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGAATTCTCGGCAAAAGTTGA 0.438000 4 156 0 0 0.021553 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) 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) ggaaggggaaaaaaagaaggg 0.413000 3 119 0 0 0.004672 0 0 SNX7 51375 broad.mit.edu 37 1 99161131 99161131 + Missense_Mutation SNP G G T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr1:99161131G>T ENST00000370189.5 + 6 869 c.505G>T c.(505-507)Gtc>Ttc p.V169F SNX7_ENST00000529992.1_Missense_Mutation_p.V178F|SNX7_ENST00000306121.3_Missense_Mutation_p.V233F Q9UNH6 SNX7_HUMAN sorting nexin 7 169 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 13 all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137) Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234) GGGGCAAACCGTCAGAGCTGT 0.403000 33 75 4.3181e-19 5.11354e-19 0.054565 1 0 AGPAT6 137964 broad.mit.edu 37 8 41456786 41456786 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr8:41456786G>A ENST00000396987.3 + 2 1055 c.128G>A c.(127-129)cGc>cAc p.R43H NM_178819.3 NP_848934.1 Q86UL3 GPAT4_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 6 43 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity p.R43H(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TTTGGTATCCGCAAACTCTAC 0.433000 4 183 0 0 0.009096 0 0 PIWIL2 55124 broad.mit.edu 37 8 22211863 22211863 + Missense_Mutation SNP G G A rs150723884 byFrequency TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr8:22211863G>A ENST00000356766.6 + 22 2885 c.2737G>A c.(2737-2739)Gca>Aca p.A913T PIWIL2_ENST00000454009.2_Missense_Mutation_p.A913T|PIWIL2_ENST00000521356.1_Intron NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 913 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TCTCAACACCGCAAACCTGAG 0.463000 4 163 0 0 0.009096 0 0 FAM86DP 0 broad.mit.edu 37 3 75475709 75475709 + RNA SNP T T C TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr3:75475709T>C ENST00000459803.1 - 0 820 NR_024241.1 p.I261V(1) CTCCGCAGGATCCCGACCAGC 0.562000 3 47 0 0 0.009096 0 0 HERC2P9 0 broad.mit.edu 37 15 28929385 28929385 + RNA SNP T T C rs692172 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr15:28929385T>C ENST00000528584.1 + 0 1922 NR_036443.1 CACGCTGCGGTGGTCTTGCAT 0.453000 4 52 0 0 0.009096 0 0 KRTAP9-2 83899 broad.mit.edu 37 17 39383275 39383275 + Silent SNP C C G TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:39383275C>G ENST00000377721.3 + 1 376 c.369C>G c.(367-369)ccC>ccG p.P123P KRTAP9-2_ENST00000455970.2_Silent_p.P107P NM_031961.2 NP_114167.2 Q9BYQ4 KRA92_HUMAN keratin associated protein 9-2 123 17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP]. keratin filament protein binding large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) GCTACTACCCCACGACTGTCT 0.627000 3 171 0 0 0.004672 0 0 FADS6 283985 broad.mit.edu 37 17 72874555 72874555 + Missense_Mutation SNP C C T rs145096183 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:72874555C>T ENST00000310226.6 - 6 972 c.958G>A c.(958-960)Gag>Aag p.E320K NM_178128.3 NP_835229.2 Q8N9I5 FADS6_HUMAN fatty acid desaturase 6 326 fatty acid biosynthetic process integral to membrane oxidoreductase activity endometrium(3)|kidney(1)|lung(4) 8 all_lung(278;0.172)|Lung NSC(278;0.207) TATGAGTCCTCGTTGTACGGT 0.587000 20 65 0 0 0.043863 0 0 SI 6476 broad.mit.edu 37 3 164741469 164741469 + Silent SNP T T A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr3:164741469T>A ENST00000264382.3 - 26 3050 c.2988A>T c.(2986-2988)acA>acT p.T996T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 996 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGAGGTCAGCTGTTATACCCA 0.403000 HNSCC(35;0.089) 29 75 0 0 0.037714 0 0 HCN1 348980 broad.mit.edu 37 5 45262699 45262699 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr5:45262699G>A ENST00000303230.4 - 8 2054 c.1997C>T c.(1996-1998)cCg>cTg p.P666L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 666 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGTGTACACCGGTGGAGATTG 0.577000 4 103 0 0 0.021553 0 0 ARRB1 408 broad.mit.edu 37 11 74979939 74979939 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr11:74979939G>A ENST00000420843.2 - 14 1184 c.1087C>T c.(1087-1089)Cgg>Tgg p.R363W ARRB1_ENST00000393505.4_Missense_Mutation_p.R363W|ARRB1_ENST00000360025.3_Missense_Mutation_p.R355W NM_004041.4 NP_004032.2 P49407 ARRB1_HUMAN arrestin, beta 1 363 Interaction with TRAF6. G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding breast(4)|large_intestine(2)|lung(4)|prostate(1) 11 TCACCTTCCCGATGCGGGGGT 0.627000 49 108 0 0 0.048971 0 0 ATL1 51062 broad.mit.edu 37 14 51054695 51054695 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:51054695G>A ENST00000441560.2 + 3 662 c.181G>A c.(181-183)Gct>Act p.A61T ATL1_ENST00000354525.4_Missense_Mutation_p.A61T|ATL1_ENST00000358385.6_Missense_Mutation_p.A61T|ATL1_ENST00000357032.3_Missense_Mutation_p.A61T NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 61 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 TCTCTCGGAGGCTGTCAGAGA 0.433000 6 278 0 0 0.038147 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274150 39274150 + Missense_Mutation SNP T T A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:39274150T>A ENST00000391413.2 - 1 456 c.418A>T c.(418-420)Agc>Tgc p.S140C NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 140 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.S140C(2) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ctggagatgctgcagctgggg 0.672000 4 21 0 0 0.105934 0 0 GCN1L1 10985 broad.mit.edu 37 12 120589045 120589045 + Missense_Mutation SNP C C G TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr12:120589045C>G ENST00000300648.6 - 34 4225 c.4213G>C c.(4213-4215)Gtg>Ctg p.V1405L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1405 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGGCCCTTCACCAGGCCCGCC 0.602000 5 98 0 0 0.014758 0 0 FAM50B 26240 broad.mit.edu 37 6 3850220 3850220 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr6:3850220G>A ENST00000380274.1 + 1 601 c.175G>A c.(175-177)Gag>Aag p.E59K FAM50B_ENST00000380272.3_Missense_Mutation_p.E59K Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 59 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) CGTGGAGGCCGAGCTGAAGTC 0.662000 15 30 0 0 0.024245 0 0 OPLAH 26873 broad.mit.edu 37 8 145113008 145113008 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr8:145113008G>A ENST00000426825.1 - 8 1074 c.993C>T c.(991-993)caC>caT p.H331H OPLAH_ENST00000534424.1_5'UTR NM_017570.3 NP_060040.1 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 331 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) CCTCGAAGACGTGCTCGAATT 0.662000 4 131 0 0 0.009096 0 0 MYH13 8735 broad.mit.edu 37 17 10209906 10209906 + Missense_Mutation SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:10209906G>A ENST00000418404.3 - 36 5499 c.5336C>T c.(5335-5337)aCc>aTc p.T1779I MYH13_ENST00000570743.1_Missense_Mutation_p.T1779I|MYH13_ENST00000252172.4_Missense_Mutation_p.T1779I Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1779 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GTGGGCGCTGGTGTCCTGTTC 0.592000 26 129 0 0 0.108266 0 0 ATXN10 25814 broad.mit.edu 37 22 46125386 46125386 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr22:46125386G>A ENST00000252934.5 + 7 1075 c.810G>A c.(808-810)cgG>cgA p.R270R ATXN10_ENST00000381061.4_Silent_p.R206R NM_013236.3 NP_037368.1 Q9UBB4 ATX10_HUMAN ataxin 10 270 cell death|neuron projection development dendrite|neuronal cell body|perinuclear region of cytoplasm central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 10 Ovarian(80;0.00973)|all_neural(38;0.0417) UCEC - Uterine corpus endometrioid carcinoma (28;0.0223) TGTTTTTGCGGCATGCTGAGT 0.468000 4 173 0 0 0.009096 0 0 CD300LF 146722 broad.mit.edu 37 17 72692351 72692351 + Missense_Mutation SNP C C T rs149416788 TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:72692351C>T ENST00000469092.1 - 5 737 c.461G>A c.(460-462)cGg>cAg p.R154Q CD300LF_ENST00000343125.4_Missense_Mutation_p.R154Q|CD300LF_ENST00000301573.9_Missense_Mutation_p.R204Q|CD300LF_ENST00000583937.1_Missense_Mutation_p.G204R|CD300LF_ENST00000326165.6_Missense_Mutation_p.G189R|CD300LF_ENST00000464910.1_Missense_Mutation_p.G192R|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_Intron Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 0 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGGGACATCCCGGCTGCTAAA 0.493000 5 211 0 0 0.014758 0 0 NPAS2 4862 broad.mit.edu 37 2 101592002 101592002 + Silent SNP C C T rs140730823 byFrequency TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr2:101592002C>T ENST00000335681.5 + 14 1650 c.1365C>T c.(1363-1365)ccC>ccT p.P455P NPAS2_ENST00000542504.1_Silent_p.P520P|AC016738.3_ENST00000439150.1_RNA|AC016738.3_ENST00000446644.1_RNA NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 455 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TACCTGTCCCCGGGCTCAGCC 0.612000 6 256 0 0 0.021553 0 0 ZC3H13 23091 broad.mit.edu 37 13 46563027 46563027 + Missense_Mutation SNP T T C TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr13:46563027T>C ENST00000242848.4 - 9 1498 c.1150A>G c.(1150-1152)Aga>Gga p.R384G ZC3H13_ENST00000282007.3_Missense_Mutation_p.R384G Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 384 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CTCTGCTTTCTCTGGGGAGAC 0.483000 5 56 0 0 0.014758 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47611021 47611021 + Nonsense_Mutation SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr20:47611021C>T ENST00000371917.4 + 22 3007 c.3007C>T c.(3007-3009)Cag>Tag p.Q1003* NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1003 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity p.Q1003E(1) breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) GGAGCTCGCTCAGCTGATAGG 0.493000 20 66 0 0 0.055883 0 0 CLCN3 0 broad.mit.edu 37 4 170628369 170628369 + Nonsense_Mutation SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr4:170628369C>T ENST00000513761.1 + 11 2660 c.2101C>T c.(2101-2103)Cag>Tag p.Q701* CLCN3_ENST00000347613.4_Nonsense_Mutation_p.Q701*|CLCN3_ENST00000504131.2_Nonsense_Mutation_p.Q684*|CLCN3_ENST00000360642.3_Nonsense_Mutation_p.Q674* NM_001829.3 NP_001820.2 P51790 CLCN3_HUMAN chloride channel, voltage-sensitive 3 701 CBS 1. endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 29 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) AAAAGAATCTCAGAGATTAGT 0.358000 47 154 0 0 0.048971 0 0 IRAK4 51135 broad.mit.edu 37 12 44172022 44172022 + Silent SNP C C T TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr12:44172022C>T ENST00000431837.1 + 7 794 c.486C>T c.(484-486)caC>caT p.H162H IRAK4_ENST00000551736.1_Silent_p.H286H|IRAK4_ENST00000440781.2_Silent_p.H162H|IRAK4_ENST00000448290.2_Silent_p.H286H NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 286 innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TTTCTTGGCACATGAGATGCA 0.303000 25 73 0 0 0.037714 0 0 RRBP1 6238 broad.mit.edu 37 20 17596599 17596599 + Missense_Mutation SNP C C A rs116865999 byFrequency TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr20:17596599C>A ENST00000377813.1 - 22 4226 c.3923G>T c.(3922-3924)cGg>cTg p.R1308L RRBP1_ENST00000468428.1_5'UTR|RRBP1_ENST00000455029.2_Missense_Mutation_p.R649L|RRBP1_ENST00000377807.2_Missense_Mutation_p.R875L|RRBP1_ENST00000246043.4_Missense_Mutation_p.R1308L|RRBP1_ENST00000360807.4_Missense_Mutation_p.R875L Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 1308 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GAGCTTCTGCCGCTGTGTCTG 0.627000 3 64 0.014758 0.0170285 0.014758 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 131 0 0 0.014758 0 0 SYNE2 23224 broad.mit.edu 37 14 64678781 64678781 + Missense_Mutation SNP G G C TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr14:64678781G>C ENST00000357395.3 + 105 19125 c.7981G>C c.(7981-7983)Gag>Cag p.E2661Q SYNE2_ENST00000554805.1_Missense_Mutation_p.E59Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2910Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6235Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2661Q|SYNE2_ENST00000344113.4_Missense_Mutation_p.E6276Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6276Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E154Q Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6276 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GCACTTCTCAGAGAGTGACGC 0.542000 4 197 0 0 0.009096 0 0 C1orf216 127703 broad.mit.edu 37 1 36181503 36181503 + Silent SNP G G A TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr1:36181503G>A ENST00000270815.4 - 2 1190 c.420C>T c.(418-420)ccC>ccT p.P140P NM_152374.1 NP_689587.1 Q8TAB5 CA216_HUMAN chromosome 1 open reading frame 216 140 kidney(2)|lung(3)|skin(2)|urinary_tract(1) 8 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196) GAAGGGGATCGGGAGGGCCAG 0.617000 OREG0013357 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 198 0 0 0.029380 0 0 RABL6 55684 broad.mit.edu 37 9 139734633 139734635 + In_Frame_Del DEL AGA AGA - TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr9:139734633_139734635delAGA ENST00000371675.3 + 14 2498_2500 c.1613_1615delAGA c.(1612-1617)gag>g p.EK538del RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del|RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron RAB, member RAS oncogene family-like 6 CCCTCTaaggagaagaagaagaa 0.571 8 84 --- --- --- --- LINC00840 0 broad.mit.edu 37 10 44362841 44362842 + RNA INS - - GGGCAG rs11283414 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr10:44362841_44362842insGGGCAG ENST00000431737.1 + 0 1182 NR_038268.1 ggcgggggcaagggcaggggca 0.569 4 2 --- --- --- --- AC004231.2 0 broad.mit.edu 37 17 39130721 39130724 + RNA DEL TCTT TCTT - rs12941907 by1000genomes TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chr17:39130721_39130724delTCTT ENST00000418393.1 + 0 385 tttctttctctctttctttctttc 0.377 6 4 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153363113 153363113 + Frame_Shift_Del DEL C C - TCGA-DJ-A13R-01A-11D-A10S-08 TCGA-DJ-A13R-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3f039593-91d1-43cb-a06b-41e92f7e8d20 97808f8d-720c-41c2-ba0d-59922e48a182 g.chrX:153363113delC ENST00000453960.2 - 1 64 c.10delG c.(10-12)ccfs p.A8fs MECP2_ENST00000303391.6_5'UTR|MECP2_ENST00000407218.1_5'UTR NM_001110792.1 NP_001104262.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) gcggcggcggcggcggcCATT 0.776 2 4 --- --- --- ---