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 PMF1 11243 broad.mit.edu 37 1 156203419 156203419 + Splice_Site SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr1:156203419G>T ENST00000368277.3 + 3 277 c.268G>T c.(268-270)Gag>Tag p.E90* PMF1_ENST00000565805.1_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000368276.4_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000320139.5_Splice_Site_p.E90*|PMF1_ENST00000368273.4_Splice_Site_p.E92*|PMF1_ENST00000368279.3_Splice_Site_p.E90*|PMF1-BGLAP_ENST00000490491.1_Splice_Site_p.E90*|PMF1_ENST00000567140.1_Splice_Site_p.E90* NM_007221.3 NP_009152.2 polyamine-modulated factor 1 kidney(1)|large_intestine(2)|lung(3) 6 Hepatocellular(266;0.158) TTCTCTTCAGGAGGAAATCTC 0.443 4 110 --- --- --- --- CD96 10225 broad.mit.edu 37 3 111263902 111263902 + Missense_Mutation SNP A A G TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr3:111263902A>G ENST00000352690.4 + 2 311 c.71A>G c.(70-72)gAa>gGa p.E24G CD96_ENST00000283285.5_Missense_Mutation_p.E24G|CD96_ENST00000438817.2_Missense_Mutation_p.E24G NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule 24 cell adhesion|immune response|regulation of immune response integral to plasma membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5) 35 GGAGTTTGGGAAAAAACAGTC 0.403 Opitz Trigonocephaly syndrome 6 51 --- --- --- --- CD200R1L 344807 broad.mit.edu 37 3 112546090 112546090 + Splice_Site SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr3:112546090T>C ENST00000488794.1 - 6 957 c.e6-2 CD200R1L_ENST00000448932.1_Splice_Site|CD200R1L_ENST00000398214.1_Splice_Site Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 CGGGTGTAACTGCAGAGAGGA 0.428 10 53 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137763721 137763721 + Missense_Mutation SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr5:137763721G>A ENST00000314358.5 + 20 4899 c.4699G>A c.(4699-4701)Gtt>Att p.V1567I KDM3B_ENST00000394866.1_Missense_Mutation_p.V1223I|KDM3B_ENST00000542866.1_Missense_Mutation_p.V599I NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1567 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(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GTCTGATGCTGTTAATGTGAT 0.433 26 117 --- --- --- --- DDX41 51428 broad.mit.edu 37 5 176942200 176942200 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr5:176942200C>T ENST00000507955.1 - 7 1154 c.631G>A c.(631-633)Ggc>Agc p.G211S DDX41_ENST00000506965.1_5'UTR NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 211 apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) GTGGGGATGCCCTGGATCTGA 0.527 7 72 --- --- --- --- SMPD2 6610 broad.mit.edu 37 6 109763184 109763184 + Missense_Mutation SNP A A T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr6:109763184A>T ENST00000258052.3 + 4 591 c.232A>T c.(232-234)Att>Ttt p.I78F NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 78 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) CAGCGGAATCATTGGCAGTGG 0.502 28 156 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 145157448 145157448 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr6:145157448T>C ENST00000367545.3 + 70 9836 c.9836T>C c.(9835-9837)gTg>gCg p.V3279A UTRN_ENST00000367526.4_Missense_Mutation_p.V834A NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3279 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AATCTACAGGTGGAGTATGAG 0.488 26 117 --- --- --- --- TRIL 9865 broad.mit.edu 37 7 28997483 28997483 + RNA SNP G G A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr7:28997483G>A ENST00000322982.3 - 0 451 AC005013.5_ENST00000436594.1_lincRNA Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding AGGTGAGCACGTCGTGGGGGC 0.652 7 56 --- --- --- --- NR4A3 8013 broad.mit.edu 37 9 102590779 102590779 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr9:102590779C>T ENST00000330847.1 + 2 532 c.488C>T c.(487-489)gCg>gTg p.A163V NR4A3_ENST00000338488.4_Missense_Mutation_p.A152V|NR4A3_ENST00000395097.2_Missense_Mutation_p.A152V Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 152 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CCCCCGCAGGCGGGGGCGTTA 0.741 T EWSR1 extraskeletal myxoid chondrosarcoma 4 28 --- --- --- --- XPOT 11260 broad.mit.edu 37 12 64825398 64825398 + Missense_Mutation SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr12:64825398C>A ENST00000332707.5 + 18 2586 c.2057C>A c.(2056-2058)aCa>aAa p.T686K NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 686 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) TGTTTACAGACATTCTTGCCA 0.413 4 51 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105419126 105419126 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr14:105419126C>T ENST00000333244.5 - 7 2781 c.2662G>A c.(2662-2664)Gct>Act p.A888T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 888 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCAGGTCAGCGGAAGGGGGC 0.647 11 165 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70843713 70843713 + Silent SNP T T A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr16:70843713T>A ENST00000393567.2 - 85 15006 c.14856A>T c.(14854-14856)acA>acT p.T4952T NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4952 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TCCTCTGCCGTGTGTAATTGA 0.507 9 89 --- --- --- --- SUPT6H 6830 broad.mit.edu 37 17 27011735 27011735 + Silent SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr17:27011735C>A ENST00000314616.6 + 18 2644 c.2361C>A c.(2359-2361)tcC>tcA p.S787S SUPT6H_ENST00000347486.4_Silent_p.S787S NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 787 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TTGCTTTCTCCTCTGCCAGGT 0.468 3 36 --- --- --- --- GMIP 51291 broad.mit.edu 37 19 19745500 19745500 + Missense_Mutation SNP C C T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:19745500C>T ENST00000203556.4 - 18 2037 c.1900G>A c.(1900-1902)Gtg>Atg p.V634M GMIP_ENST00000445806.2_Missense_Mutation_p.V605M|GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.V608M NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 634 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 AAGGGGATCACGGGCTCGGTG 0.667 21 119 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31767790 31767790 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:31767790T>C ENST00000240587.4 - 2 3236 c.2909A>G c.(2908-2910)gAc>gGc p.D970G NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 970 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTGGCCAGTGTCCAAGTTTTT 0.522 5 43 --- --- --- --- ZNF587 84914 broad.mit.edu 37 19 58371137 58371137 + Missense_Mutation SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chr19:58371137G>T ENST00000339656.5 + 3 1539 c.1357G>T c.(1357-1359)Gtt>Ttt p.V453F ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000423137.1_Missense_Mutation_p.V452F|ZNF587_ENST00000419854.1_Missense_Mutation_p.V410F|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron NM_001204817.1|NM_032828.3 NP_001191746.1|NP_116217.1 Q96SQ5 ZN587_HUMAN zinc finger protein 587 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TCATCTTCTGGTTCATGAGAG 0.433 11 72 --- --- --- --- CHDC2 286464 broad.mit.edu 37 X 36103579 36103579 + Missense_Mutation SNP T T C TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:36103579T>C ENST00000313548.4 + 5 751 c.565T>C c.(565-567)Tct>Cct p.S189P NM_173695.2 NP_775966.1 calponin homology domain containing 2 TTCAAGTCAATCTTTACCTGT 0.368 9 19 --- --- --- --- BRWD3 254065 broad.mit.edu 37 X 79984395 79984395 + Missense_Mutation SNP C C A TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:79984395C>A ENST00000373275.4 - 14 1458 c.1242G>T c.(1240-1242)ttG>ttT p.L414F NM_153252.4 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 414 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CTCCAGATGGCAAATTATTGC 0.338 11 42 --- --- --- --- ACTRT1 139741 broad.mit.edu 37 X 127185975 127185975 + Missense_Mutation SNP G G T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:127185975G>T ENST00000371124.3 - 1 407 c.211C>A c.(211-213)Cac>Aac p.H71N NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 71 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 ATGGGGTAGTGCAAATGTAGG 0.473 6 60 --- --- --- --- MAGEA6 4105 broad.mit.edu 37 X 151870216 151870216 + Silent SNP A A T TCGA-YL-A8HJ-01A-11D-A364-08 TCGA-YL-A8HJ-10A-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx 381043c4-b863-489e-9b3d-6c3551c2c4b1 998f424a-c098-4c2c-b258-03f0e4c0ea1d g.chrX:151870216A>T ENST00000329342.5 + 3 1131 c.906A>T c.(904-906)ccA>ccT p.P302P NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 302 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) TTTCCTACCCACTCCTGCATG 0.567 22 50 --- --- --- ---