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 DNAH8 1769 broad.mit.edu 37 6 38891794 38891794 + Silent SNP G G A rs79890174 byFrequency TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr6:38891794G>A ENST00000359357.3 + 71 10421 c.10167G>A c.(10165-10167)acG>acA p.T3389T DNAH8_ENST00000449981.2_Silent_p.T3606T|RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3353T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGCTGTGCACGGGATTCCTTT 0.423000 6 235 0 0 1 0 0 MYO1F 4542 broad.mit.edu 37 19 8587611 8587611 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr19:8587611G>A ENST00000338257.8 - 26 3224 c.2957C>T c.(2956-2958)tCc>tTc p.S986F NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 986 IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058). unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CAGGGATGTGGACGGAGGGCC 0.687000 20 25 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136113803 136113803 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:136113803C>T ENST00000298110.1 - 1 30 c.31G>A c.(31-33)Gag>Aag p.E11K NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 11 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CTGTTACTCTCGCGCGTGCTG 0.632000 41 87 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24310731 24310731 + Silent SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr19:24310731G>A ENST00000357002.4 + 4 2044 c.1929G>A c.(1927-1929)tcG>tcA p.S643S ZNF254_ENST00000342944.6_Silent_p.S558S NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 643 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) ATCGGTCCTCGCACCTCACCA 0.373000 21 233 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 5 127 2.0095e-06 2.27391e-06 1 1 0 IL6ST 3572 broad.mit.edu 37 5 55237255 55237255 + Silent SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr5:55237255G>A ENST00000381298.2 - 17 2724 c.2412C>T c.(2410-2412)ggC>ggT p.G804G IL6ST_ENST00000381294.3_Silent_p.G743G|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000502326.3_Silent_p.G804G|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Silent_p.G804G|CTD-2031P19.5_ENST00000576302.1_RNA NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 804 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TACCATCACCGCCATCTACAT 0.443000 O hepatocellular ca 5 251 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902206 1902206 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr20:1902206T>C ENST00000358771.4 + 3 754 c.602T>C c.(601-603)gTa>gCa p.V201A SIRPA_ENST00000356025.3_Missense_Mutation_p.V201A|SIRPA_ENST00000400068.3_Missense_Mutation_p.V201A NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 201 Ig-like C1-type 1. VG -> AR. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GTGGACCCCGTAGGAGAGAGC 0.572000 4 188 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40257951 40257951 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr15:40257951C>T ENST00000263791.5 + 8 967 c.924C>T c.(922-924)gtC>gtT p.V308V EIF2AK4_ENST00000559624.1_Silent_p.V308V|EIF2AK4_ENST00000382727.2_Silent_p.V308V NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 308 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTGGCTTTGTCTTGTTGTATG 0.398000 101 110 0 0 1 0 0 EMD 2010 broad.mit.edu 37 X 153608123 153608123 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:153608123C>T ENST00000369842.4 + 2 444 c.156C>T c.(154-156)agC>agT p.S52S EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 52 Interaction with F-actin (Probable). cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCCCCCCAGCTCGTCCGCCG 0.672000 61 85 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70152481 70152481 + Silent SNP A A G rs141618560 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr4:70152481A>G ENST00000335568.5 + 3 884 c.882A>G c.(880-882)gaA>gaG p.E294E UGT2B28_ENST00000511240.1_Silent_p.E294E NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 294 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E294E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) AAATGGAGGAATTTGTACAGA 0.393000 4 215 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124297882 124297882 + Missense_Mutation SNP A A G TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr12:124297882A>G ENST00000409039.3 + 19 2987 c.2962A>G c.(2962-2964)Aag>Gag p.K988E NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 988 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAATCTTATGAAGTATCTACA 0.373000 4 240 0 0 1 0 0 ACP1 52 broad.mit.edu 37 2 277249 277249 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:277249C>T ENST00000272067.6 + 6 518 c.422C>T c.(421-423)aCg>aTg p.T141M ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272065.5_Missense_Mutation_p.T141M NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 141 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) GACTTTGAGACGGTGTACCAG 0.498000 76 106 0 0 1 0 0 MARCH5 54708 broad.mit.edu 37 10 94110927 94110927 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr10:94110927G>A ENST00000358935.2 + 6 1132 c.800G>A c.(799-801)cGc>cAc p.R267H NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 267 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 CAGGCACACCGCAAAATTCTG 0.353000 4 210 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930166 45930166 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr7:45930166C>T ENST00000275525.3 + 2 665 c.369C>T c.(367-369)agC>agT p.S123S IGFBP1_ENST00000468955.1_Silent_p.S123S|IGFBP1_ENST00000457280.1_Silent_p.S123S NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 123 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 GCCCTGAAAGCCCAGAGAGCA 0.552000 4 121 0 0 1 0 0 CDX4 1046 broad.mit.edu 37 X 72667179 72667179 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:72667179C>T ENST00000373514.2 + 1 90 c.90C>T c.(88-90)ggC>ggT p.G30G NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 30 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) CTGGGACAGGCGGCACAGGGG 0.607000 41 52 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18846121 18846121 + RNA SNP C C T rs4302302 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr22:18846121C>T ENST00000412938.1 + 0 3479 CACGCACTGGCGCACGATGTA 0.617000 7 49 0 0 1 0 0 DDC 1644 broad.mit.edu 37 7 50595897 50595897 + Missense_Mutation SNP G G A rs150760434 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr7:50595897G>A ENST00000444124.2 - 6 852 c.652C>T c.(652-654)Cgt>Tgt p.R218C DDC_ENST00000426377.1_Missense_Mutation_p.R140C|DDC_ENST00000357936.5_Missense_Mutation_p.R218C|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000380984.4_Missense_Mutation_p.R218C|DDC_ENST00000431062.1_Intron NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 218 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GCAGACGCACGCATGGCGAAG 0.532000 4 158 0 0 1 0 0 CAB39 51719 broad.mit.edu 37 2 231682512 231682512 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:231682512T>C ENST00000258418.5 + 8 1166 c.737T>C c.(736-738)aTg>aCg p.M246T CAB39_ENST00000409788.3_Missense_Mutation_p.M246T|CAB39_ENST00000410084.3_Missense_Mutation_p.M246T NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 246 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TTCACAATTATGACAAAATAC 0.343000 93 101 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196788467 196788467 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:196788467C>T ENST00000312428.6 - 23 3777 c.3677G>A c.(3676-3678)gGc>gAc p.G1226D NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1226 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GGACAATTTGCCACGCACCAA 0.383000 4 151 0 0 1 0 0 C1QL2 165257 broad.mit.edu 37 2 119914554 119914554 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:119914554G>A ENST00000272520.3 - 2 1307 c.688C>T c.(688-690)Cgg>Tgg p.R230W NM_182528.3 NP_872334.2 Q7Z5L3 C1QL2_HUMAN complement component 1, q subcomponent-like 2 230 C1q. collagen NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1) 7 GCGCTGGCCCGGACCTGGGGA 0.657000 HNSCC(49;0.14) 4 215 0 0 1 0 0 TECTB 6975 broad.mit.edu 37 10 114057887 114057887 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr10:114057887C>T ENST00000369422.3 + 7 732 c.732C>T c.(730-732)ttC>ttT p.F244F NM_058222.1 NP_478129.1 Q96PL2 TECTB_HUMAN tectorin beta 244 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GGGCAACCTTCCAATTCAATG 0.522000 40 63 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 66 84 0 0 1 0 0 SEC22C 9117 broad.mit.edu 37 3 42594904 42594904 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr3:42594904T>C ENST00000264454.3 - 7 891 c.748A>G c.(748-750)Atg>Gtg p.M250V SEC22C_ENST00000536332.1_Intron|SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000273156.7_Intron Q9BRL7 SC22C_HUMAN SEC22 vesicle trafficking protein homolog C (S. cerevisiae) 250 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(2) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) ACCACCTTCATAGTCCTGGCT 0.448000 31 49 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154158011 154158011 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:154158011C>T ENST00000360256.4 - 14 4254 c.4054G>A c.(4054-4056)Gtg>Atg p.V1352M NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1352 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GTGTCATCCACAATTATCCTT 0.423000 6 457 0 0 1 0 0 ASB9 140462 broad.mit.edu 37 X 15268608 15268608 + Missense_Mutation SNP A A T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:15268608A>T ENST00000546332.1 - 6 995 c.512T>A c.(511-513)cTc>cAc p.L171H ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Missense_Mutation_p.L161H|ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000380488.4_Missense_Mutation_p.L171H NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 171 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) AGCCAAATAGAGTGGAGTGCC 0.458000 9 246 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151792590 151792590 + Silent SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr4:151792590G>A ENST00000535741.1 - 19 2747 c.2274C>T c.(2272-2274)gtC>gtT p.V758V LRBA_ENST00000357115.3_Silent_p.V758V|LRBA_ENST00000507224.1_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 758 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GTCCAAGCATGACTTCTGCTT 0.373000 33 131 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1265999 1265999 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr11:1265999T>C ENST00000447027.1 + 31 7956 c.7898T>C c.(7897-7899)cTt>cCt p.L2633P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L2630P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2630 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.L2630P(1)|p.L2609P(1) 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) GCACGCACGCTTCCAGTGTGG 0.637000 4 147 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67235520 67235520 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr16:67235520G>A ENST00000393997.2 + 10 1109 c.1052G>A c.(1051-1053)cGg>cAg p.R351Q ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 298 ELMO. apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding p.R351Q(2) cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CCGCGCATGCGGACGCCCCTG 0.587000 17 98 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 313566 313566 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr19:313566C>T ENST00000264819.4 - 8 743 c.733G>A c.(733-735)Gcg>Acg p.A245T NM_017550.1 NP_060020.1 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family member 2 245 ELM2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCTTCACCGCCCTGTACAGG 0.637000 15 192 0 0 1 0 0 GFOD1 54438 broad.mit.edu 37 6 13365582 13365582 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr6:13365582C>T ENST00000379287.3 - 2 1230 c.566G>A c.(565-567)gGc>gAc p.G189D GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 189 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GGCCTTTTGGCCGGTGAGGAA 0.602000 4 50 0 0 1 0 0 IKZF3 22806 broad.mit.edu 37 17 37922280 37922280 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr17:37922280C>T ENST00000346872.3 - 8 1354 c.1293G>A c.(1291-1293)ccG>ccA p.P431P IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000346243.3_Silent_p.P353P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000439016.2_Silent_p.P336P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000377958.2_Silent_p.P344P NM_012481.4 NP_036613.2 Q9UKT9 IKZF3_HUMAN IKAROS family zinc finger 3 (Aiolos) 431 B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GGCAGATGGGCGGGGGCTTGA 0.552000 17 219 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 264 0 0 1 0 0 IGSF8 93185 broad.mit.edu 37 1 160063551 160063551 + Missense_Mutation SNP G G T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr1:160063551G>T ENST00000368086.1 - 3 1069 c.853C>A c.(853-855)Cag>Aag p.Q285K IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 285 Ig-like C2-type 2. cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCTGCAATCTGGGCCCAGCTG 0.607000 3 43 1 1 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846098 18846098 + RNA SNP G G A rs9306211 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr22:18846098G>A ENST00000412938.1 + 0 3456 ATGCCTCGGCGCTCGATCTCC 0.622000 8 53 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 26 0.115264 0.122379 1 1 0 UNC45A 55898 broad.mit.edu 37 15 91486160 91486160 + Missense_Mutation SNP A A T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr15:91486160A>T ENST00000394275.2 + 11 1665 c.830A>T c.(829-831)aAg>aTg p.K277M UNC45A_ENST00000418476.2_Missense_Mutation_p.K292M|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 292 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CGGGAGCTGAAGGTCCTCATC 0.572000 4 261 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 428114 428114 + Missense_Mutation SNP G G T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr5:428114G>T ENST00000316418.5 + 9 1011 c.967G>T c.(967-969)Gat>Tat p.D323Y AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y|AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000505113.1_Missense_Mutation_p.D305Y NM_020731.4 NP_065782.2 A9YTQ3 AHRR_HUMAN aryl-hydrocarbon receptor repressor 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) AGCCACCGCGGATGCAAAGTG 0.587000 3 32 1 1 1 1 0 LCP1 3936 broad.mit.edu 37 13 46718596 46718596 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr13:46718596G>A ENST00000398576.2 - 14 1622 c.1234C>T c.(1234-1236)Cga>Tga p.R412* LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412* P13796 PLSL_HUMAN lymphocyte cytosolic protein 1 (L-plastin) 412 Actin-binding 2.|CH 3. regulation of intracellular protein transport|T cell activation involved in immune response cell junction|cytosol|ruffle membrane calcium ion binding breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1) 34 Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|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;5.39e-05) TGATTGACTCGAGGGTTAACA 0.418000 T BCL6 NHL 6 215 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47099838 47099838 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:47099838G>A ENST00000377107.2 + 5 1024 c.670G>A c.(670-672)Gag>Aag p.E224K USP11_ENST00000218348.3_Missense_Mutation_p.E267K P51784 UBP11_HUMAN ubiquitin specific peptidase 11 267 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 TGCGGCCCTTGAGACTGGGCA 0.557000 4 92 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144135159 144135159 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr4:144135159C>A ENST00000307017.4 + 9 2536 c.2030C>A c.(2029-2031)aCc>aAc p.T677N USP38_ENST00000510377.1_Missense_Mutation_p.T677N NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 677 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) AATGAAAAAACCATAGGCAGT 0.403000 5 209 1 1 1 1 0 LYZL4 131375 broad.mit.edu 37 3 42448742 42448742 + Translation_Start_Site SNP A A G TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr3:42448742A>G ENST00000287748.3 - 2 277 c.2T>C c.(1-3)aTg>aCg p.M1T LYZL4_ENST00000470991.1_Intron|LYZL4_ENST00000441172.1_Start_Codon_SNP_p.M1T NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 1 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) GGATGCCTTCATCTTCTCCAG 0.572000 5 59 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 5 141 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54783460 54783460 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:54783460G>A ENST00000218436.6 - 8 3076 c.3047C>T c.(3046-3048)tCc>tTc p.S1016F NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 1016 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CACGAACTTGGATTCCACCAT 0.527000 9 52 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18778610 18778610 + RNA SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr22:18778610G>A ENST00000412448.1 - 0 795 CCGCGGCCACGGCAGCCCTGG 0.632000 8 12 0 0 1 0 0 RNF135 84282 broad.mit.edu 37 17 29325786 29325786 + Nonsense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr17:29325786G>A ENST00000328381.5 + 5 1749 c.876G>A c.(874-876)tgG>tgA p.W292* RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR NM_032322.3 NP_115698.3 Q8IUD6 RN135_HUMAN ring finger protein 135 292 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) CCTATCGCTGGAGCTGTGAGA 0.532000 8 129 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33656147 33656147 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr6:33656147C>T ENST00000374316.5 + 49 7567 c.6507C>T c.(6505-6507)agC>agT p.S2169S ITPR3_ENST00000605930.1_Silent_p.S2169S Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2169 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCAAAGTGAGCGACTTCTTCG 0.632000 8 87 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145763155 145763155 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr8:145763155T>C ENST00000377307.2 - 6 2648 c.2564A>G c.(2563-2565)aAg>aGg p.K855R ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron NM_025251.1 NP_079527.1 Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 840 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 TTTGGACTTCTTCTTAGTGTT 0.547000 68 194 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153907309 153907309 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr1:153907309C>T ENST00000361217.4 - 18 3118 c.2700G>A c.(2698-2700)caG>caA p.Q900Q NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 900 Gln-rich. p.Q788Q(1)|p.Q900Q(1) NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) gctgctgttgctgctgctgct 0.642000 4 116 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104984645 104984645 + Missense_Mutation SNP A A C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:104984645A>C ENST00000372582.1 + 8 1765 c.1009A>C c.(1009-1011)Aat>Cat p.N337H IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 337 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGAAAACCGAAATGGACGGAA 0.378000 14 193 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128478760 128478760 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr7:128478760C>T ENST00000325888.8 + 8 1575 c.1314C>T c.(1312-1314)tgC>tgT p.C438C FLNC_ENST00000346177.6_Silent_p.C438C NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 438 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGTTCCGCTGCACATACAGAC 0.642000 9 236 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201958650 201958650 + Missense_Mutation SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr1:201958650T>C ENST00000295640.4 + 3 771 c.728T>C c.(727-729)gTt>gCt p.V243A RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A|RNPEP_ENST00000471105.1_Intron NM_020216.3 NP_064601.3 Q9H4A4 AMPB_HUMAN arginyl aminopeptidase (aminopeptidase B) 243 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TCGGCTGAAGTTGGACCCAGG 0.552000 11 126 0 0 1 0 0 GRIN2A 0 broad.mit.edu 37 16 9858656 9858656 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr16:9858656C>A ENST00000396573.2 - 14 3054 c.2745G>T c.(2743-2745)atG>atT p.M915I GRIN2A_ENST00000396575.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M915I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M758I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M915I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M915I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 915 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGGGTGAGTCCATTCTTGAGG 0.463000 6 408 6.5536e-12 7.51479e-12 1 1 0 ITPK1 3705 broad.mit.edu 37 14 93483148 93483148 + Splice_Site SNP T T C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr14:93483148T>C ENST00000267615.6 - 4 294 c.e4-2 ITPK1_ENST00000556954.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site Q13572 ITPK1_HUMAN inositol-tetrakisphosphate 1-kinase blood coagulation|inositol trisphosphate metabolic process|signal transduction cytosol ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding p.?(2) endometrium(1)|large_intestine(3)|lung(6)|ovary(1) 11 all_cancers(154;0.077)|all_epithelial(191;0.247) Epithelial(152;0.124)|all cancers(159;0.169) AAGGTTCAGCTGTGAGGCAGG 0.577000 27 57 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33840366 33840366 + Missense_Mutation SNP G G A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr15:33840366G>A ENST00000389232.4 + 9 846 c.776G>A c.(775-777)cGa>cAa p.R259Q RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 259 MIR 3. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCTGGGACTCGAGCCAGGTCT 0.512000 4 25 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154600401 154600401 + Missense_Mutation SNP A A C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr1:154600401A>C ENST00000292205.5 - 1 73 c.74T>G c.(73-75)gTg>gGg p.V25G ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron NM_001025107.2|NM_001193495.1 NP_001020278.1|NP_001180424.1 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 0 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCCTCCCCCCACCCTCCCCCA 0.642000 9 58 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11352784 11352784 + Missense_Mutation SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr19:11352784C>T ENST00000294618.7 - 14 1591 c.1580G>A c.(1579-1581)cGg>cAg p.R527Q NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 527 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 CTTGGTGGGCCGGCCCCTGGG 0.622000 3 36 0 0 1 0 0 SPINK9 643394 broad.mit.edu 37 5 147715192 147715192 + Missense_Mutation SNP A A G TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr5:147715192A>G ENST00000377906.1 + 1 71 c.16A>G c.(16-18)Ata>Gta p.I6V RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron NM_001040433.1 NP_001035523.1 Q5DT21 ISK9_HUMAN serine peptidase inhibitor, Kazal type 9 6 extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|urinary_tract(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAACAGCCATAGTCCTACT 0.478000 5 146 0 0 1 0 0 SLC12A2 6558 broad.mit.edu 37 5 127520188 127520188 + Missense_Mutation SNP A A C TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr5:127520188A>C ENST00000262461.2 + 25 3619 c.3430A>C c.(3430-3432)Acc>Ccc p.T1144P SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P NM_001046.2 NP_001037.1 P55011 S12A2_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 2 1144 potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport integral to plasma membrane|membrane fraction ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_cancers(142;0.0972)|Prostate(80;0.151) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978) Bumetanide(DB00887)|Potassium Chloride(DB00761) ACTTTATAAGACCAAGGTATT 0.303000 11 160 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39922919 39922919 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:39922919C>A ENST00000342274.4 - 8 4049 c.3687G>T c.(3685-3687)gaG>gaT p.E1229D BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000378444.4_Missense_Mutation_p.E1263D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1263 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 TGCCTTTGGCCTCTGCCCTTT 0.567000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 145 198 1.81449e-70 2.10874e-70 1 1 0 HSCB 150274 broad.mit.edu 37 22 29138096 29138096 + Missense_Mutation SNP A A G TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr22:29138096A>G ENST00000216027.3 + 1 78 c.13A>G c.(13-15)Aga>Gga p.R5G HSCB_ENST00000398941.2_Missense_Mutation_p.R5G|CHEK2_ENST00000544772.1_5'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 5 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 GTGGCGGGGGAGAGCCGGGGC 0.612000 7 16 0 0 1 0 0 CREBZF 58487 broad.mit.edu 37 11 85375402 85375402 + Missense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr11:85375402C>A ENST00000527447.1 - 1 744 c.518G>T c.(517-519)tGc>tTc p.C173F CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron NM_001039618.2 NP_001034707.1 Q9NS37 ZHANG_HUMAN CREB/ATF bZIP transcription factor 173 negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) gctgctgctgcagcctccgat 0.642000 OREG0021274 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 49 1 1 1 1 0 OSBPL5 114879 broad.mit.edu 37 11 3128640 3128640 + Silent SNP C C T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr11:3128640C>T ENST00000263650.7 - 9 1071 c.912G>A c.(910-912)tcG>tcA p.S304S OSBPL5_ENST00000389989.3_Silent_p.S236S|OSBPL5_ENST00000525498.1_Silent_p.S215S|OSBPL5_ENST00000542243.1_Intron|OSBPL5_ENST00000348039.5_Silent_p.S236S NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 304 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TCTCTCTCTCCGACTTGTCTG 0.612000 6 320 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196971684 196971684 + Missense_Mutation SNP A A T TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr1:196971684A>T ENST00000367414.5 + 8 1348 c.1292A>T c.(1291-1293)tAt>tTt p.Y431F CFHR5_ENST00000256785.4_Missense_Mutation_p.Y407F NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 407 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 ACAGTGAATTATCAGGATGGA 0.358000 4 109 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54324778 54324778 + Nonsense_Mutation SNP C C A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:54324778C>A ENST00000354646.2 - 7 1666 c.1228G>T c.(1228-1230)Gga>Tga p.G410* WNK3_ENST00000375159.2_Nonsense_Mutation_p.G410*|WNK3_ENST00000375169.3_Nonsense_Mutation_p.G410* NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 410 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 ACCCTCAGTCCTGTATCCTCA 0.373000 4 183 0.000602214 0.000655575 1 1 0 AFTPH 54812 broad.mit.edu 37 2 64778672 64778674 + In_Frame_Del DEL GAT GAT - TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr2:64778672_64778674delGAT ENST00000422803.1 + 2 378_380 c.64_66delGAT c.(64-66)del p.D26del AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del Q6ULP2 AFTIN_HUMAN aftiphilin 26 protein transport AP-1 adaptor complex|cytosol|nucleus clathrin binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 35 TGGAGCAGAGGATGATGATGATG 0.409 8 304 --- --- --- --- MCC 4163 broad.mit.edu 37 5 112824048 112824049 + In_Frame_Ins INS - - GCC rs35336557 TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr5:112824048_112824049insGCC ENST00000408903.3 - 1 478_479 c.63_64insGGC c.(61-66)gggcgg>ggGGCgcgg p.21_22GR>GAR NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 549 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) ctgctgccgctgccgccgccgc 0.738 7 25 --- --- --- --- ZNF292 23036 broad.mit.edu 37 6 87968903 87968903 + Frame_Shift_Del DEL C C - TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr6:87968903delC ENST00000369577.3 + 8 5599 c.5556delC c.(5554-5556)gafs p.D1852fs ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs NM_015021.1 NP_055836.1 O60281 ZN292_HUMAN zinc finger protein 292 1852 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 89 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) TAGAAAATGACCTATCCACTC 0.378 51 87 --- --- --- --- TRBV7-3 0 broad.mit.edu 37 7 142247473 142247474 + RNA DEL AT AT - rs150154096 by1000genomes TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr7:142247473_142247474delAT ENST00000390361.3 - 0 99 acacacacacatacagacacac 0.559 7 296 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30945377 30945379 + In_Frame_Del DEL AAG AAG - TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr8:30945377_30945379delAAG ENST00000298139.5 + 12 1766_1768 c.1517_1519delAAG c.(1516-1521)aaa>a p.KE506del NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 506 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CTTCCTACTAaagaagaagaaga 0.360 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 7 266 --- --- --- --- IGHJ6 0 broad.mit.edu 37 14 106329450 106329451 + RNA INS - - ACC rs74454466 by1000genomes TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr14:106329450_106329451insACC ENST00000390560.2 - 0 17_18 CAGACGTCCATGTAGTAGTAGT 0.540 7 116 --- --- --- --- CIC 23152 broad.mit.edu 37 19 42795426 42795450 + Frame_Shift_Del DEL CTTCAGGTGGCACCTGCCCCAGCAC CTTCAGGTGGCACCTGCCCCAGCAC - TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC ENST00000572681.2 + 11 5301_5325 c.5233_5257delCTTCAGGTGGCACCTGCCCCAGCAC c.(5233-5259)cafs p.LQVAPAPAP1745fs CIC_ENST00000575354.2_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs Q96RK0 CIC_HUMAN capicua transcriptional repressor 836 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGG 0.667 """Mis, F, S""" oligodendroglioma 18 11 --- --- --- --- ANKRD20A11P 0 broad.mit.edu 37 21 15343608 15343609 + RNA INS - - A TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chr21:15343608_15343609insA ENST00000344693.5 - 0 736 NR_027270.1 TAAAACAGCAGAAAAAATTAAT 0.272 9 269 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994639 140994641 + In_Frame_Del DEL CTC CTC - rs144357389 byFrequency TCGA-TQ-A7RQ-01A-11D-A33T-08 TCGA-TQ-A7RQ-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx adbae2bb-eb36-44ff-ad9e-1aa089cff90b aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654 g.chrX:140994639_140994641delCTC ENST00000285879.4 + 4 1735_1737 c.1449_1451delCTC c.(1447-1452)agc>ag p.SS487del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 487 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.473 HNSCC(15;0.026) 9 573 --- --- --- ---