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 AVL9 23080 broad.mit.edu 37 7 32598232 32598232 + Missense_Mutation SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr7:32598232T>C ENST00000318709.4 + 9 892 c.671T>C c.(670-672)cTt>cCt p.L224P AVL9_ENST00000409301.1_Missense_Mutation_p.L224P|AVL9_ENST00000404479.1_Missense_Mutation_p.L224P NM_015060.1 NP_055875.1 Q8NBF6 AVL9_HUMAN AVL9 homolog (S. cerevisiase) 224 integral to membrane endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTGTTATCCCTTTTTCCAGGT 0.328000 3 174 0 0 0.115264 0 0 GNGT1 2792 broad.mit.edu 37 7 93540201 93540201 + Missense_Mutation SNP G G C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr7:93540201G>C ENST00000248572.5 + 3 344 c.196G>C c.(196-198)Gag>Cag p.E66Q GNGT1_ENST00000429473.1_Missense_Mutation_p.E66Q|GNGT1_ENST00000455502.1_3'UTR NM_021955.3 NP_068774.1 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 66 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|prostate(1) 6 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TCCCTTCAAGGAGCTCAAAGG 0.348000 5 84 0 0 0.184627 0 0 CPE 1363 broad.mit.edu 37 4 166403472 166403472 + Missense_Mutation SNP G G A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr4:166403472G>A ENST00000402744.4 + 4 1031 c.751G>A c.(751-753)Gac>Aac p.D251N NM_001873.2 NP_001864.1 P16870 CBPE_HUMAN carboxypeptidase E 251 cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process extracellular region|nucleus|plasma membrane metallocarboxypeptidase activity|protein binding|zinc ion binding 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) CCATGGAGGAGACCTTGTGGC 0.403000 4 151 0 0 0.150653 0 0 EIF1AX 1964 broad.mit.edu 37 X 20156731 20156731 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chrX:20156731C>T ENST00000379607.5 - 2 229 c.26G>A c.(25-27)gGt>gAt p.G9D EIF1AX_ENST00000379593.1_Intron NM_001412.3 NP_001403.1 P47813 IF1AX_HUMAN eukaryotic translation initiation factor 1A, X-linked 9 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TCTGTTTTTACCTCCTTTACC 0.313000 63 38 0 0 0.870114 0 0 SNHG14 0 broad.mit.edu 37 15 25332998 25332998 + RNA SNP C C T rs3825775 TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr15:25332998C>T ENST00000546682.1 + 0 586 SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA NR_003361.1 AATGTGGTCTCTTATGGGTGA 0.483000 23 42 0 0 0.608945 0 0 PPP1R3B 79660 broad.mit.edu 37 8 8998408 8998408 + Missense_Mutation SNP A A T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr8:8998408A>T ENST00000310455.3 - 2 904 c.754T>A c.(754-756)Ttg>Atg p.L252M PPP1R3B_ENST00000519699.1_Missense_Mutation_p.L252M NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 252 glycogen metabolic process endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) GATATTCCCAAATCCGGTCCA 0.498000 14 90 0 0 0.479597 0 0 ANO4 121601 broad.mit.edu 37 12 101520843 101520843 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr12:101520843C>T ENST00000392979.3 + 26 3119 c.2758C>T c.(2758-2760)Ccg>Tcg p.P920S ANO4_ENST00000392977.3_Missense_Mutation_p.P955S|ANO4_ENST00000550015.1_Missense_Mutation_p.P475S|ANO4_ENST00000299222.9_Missense_Mutation_p.P475S NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 955 chloride channel complex chloride channel activity p.P920S(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CAACGAGTGGCCGTGACCATG 0.488000 HNSCC(74;0.22) 3 46 0 0 0.115264 0 0 MYO5C 55930 broad.mit.edu 37 15 52486124 52486124 + Missense_Mutation SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr15:52486124T>C ENST00000261839.7 - 41 5365 c.5204A>G c.(5203-5205)aAg>aGg p.K1735R RP11-430B1.2_ENST00000560518.1_lincRNA NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1735 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) AAAGCCTAGCTTGAAACTGCT 0.383000 21 221 0 0 0.624587 0 0 SUPT6H 6830 broad.mit.edu 37 17 27008399 27008399 + Missense_Mutation SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr17:27008399T>C ENST00000314616.6 + 12 1758 c.1475T>C c.(1474-1476)gTc>gCc p.V492A SUPT6H_ENST00000347486.4_Missense_Mutation_p.V492A NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 492 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) CTGAAGCGTGTCAGGGAAGAG 0.468000 3 92 0 0 0.115264 0 0 CLIP3 25999 broad.mit.edu 37 19 36509847 36509847 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr19:36509847C>T ENST00000360535.4 - 9 1363 c.1136G>A c.(1135-1137)cGg>cAg p.R379Q AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R379Q NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 379 chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GAAGTCCATCCGGGGGGTCCG 0.612000 19 135 0 0 0.608945 0 0 LAMA5 3911 broad.mit.edu 37 20 60910087 60910087 + Missense_Mutation SNP A A C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr20:60910087A>C ENST00000252999.3 - 20 2538 c.2472T>G c.(2470-2472)ttT>ttG p.F824L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 824 Laminin EGF-like 10. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGCGGCAGCCAAAATAGTCAG 0.652000 3 55 0 0 0.115264 0 0 TTC14 151613 broad.mit.edu 37 3 180324339 180324339 + Missense_Mutation SNP C C G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr3:180324339C>G ENST00000412756.2 + 9 1189 c.1120C>G c.(1120-1122)Cac>Gac p.H374D TTC14_ENST00000382584.4_Missense_Mutation_p.H374D|TTC14_ENST00000296015.4_Missense_Mutation_p.H374D NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 374 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTGTCCAACTCACAGAAATGC 0.383000 4 196 0 0 0.150653 0 0 NOP56 10528 broad.mit.edu 37 20 2635156 2635156 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr20:2635156C>T ENST00000329276.5 + 4 821 c.305C>T c.(304-306)gCc>gTc p.A102V NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 102 rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 AAGATTGGTGCCGCAATACAG 0.517000 4 185 0 0 0.150653 0 0 CHD9 80205 broad.mit.edu 37 16 53243396 53243396 + Silent SNP T T C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr16:53243396T>C ENST00000566029.1 + 3 1664 c.1455T>C c.(1453-1455)ccT>ccC p.P485P CHD9_ENST00000398510.3_Silent_p.P485P|CHD9_ENST00000564845.1_Silent_p.P485P|CHD9_ENST00000447540.1_Silent_p.P485P Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 485 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTCTGTAGCCTCCATCTTCCA 0.343000 3 33 0 0 0.150653 0 0 ABCD1 215 broad.mit.edu 37 X 152991197 152991197 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chrX:152991197C>T ENST00000218104.3 + 1 875 c.476C>T c.(475-477)gCc>gTc p.A159V NM_000033.3 NP_000024.2 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 1 159 ABC transmembrane type-1.|Interaction with PEX19. fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2) 18 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCCAACTGGCCCTGTCGTTC 0.647000 3 39 0 0 0.115264 0 0 CDK11A 728642 broad.mit.edu 37 1 1635515 1635515 + Missense_Mutation SNP T T A rs56410233 TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr1:1635515T>A ENST00000356200.3 - 15 1889 c.1655A>T c.(1654-1656)cAg>cTg p.Q552L CDK11A_ENST00000357760.2_Missense_Mutation_p.Q585L|CDK11A_ENST00000495016.1_Intron|CDK11A_ENST00000358779.5_Missense_Mutation_p.Q576L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000378638.2_Missense_Mutation_p.Q552L|CDK11A_ENST00000404249.3_Missense_Mutation_p.Q586L|CDK11A_ENST00000378633.1_Missense_Mutation_p.Q589L cyclin-dependent kinase 11A p.Q585L(1) central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 GCGGTACCACTGGGTCACCAC 0.672000 4 43 0 0 0.184627 0 0 TRMT5 57570 broad.mit.edu 37 14 61442344 61442344 + Silent SNP A A C TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr14:61442344A>C ENST00000261249.6 - 4 1677 c.1293T>G c.(1291-1293)gtT>gtG p.V431V RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 431 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) CCCTTTGCCGAACATCCTCAG 0.483000 8 148 0 0 0.335167 0 0 KRTAP13-4 284827 broad.mit.edu 37 21 31802980 31802980 + Silent SNP C C A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr21:31802980C>A ENST00000334068.2 + 1 409 c.387C>A c.(385-387)tcC>tcA p.S129S NM_181600.1 NP_853631.1 Q3LI77 KR134_HUMAN keratin associated protein 13-4 129 intermediate filament NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 15 GTTACGGATCCAGATTCTGCT 0.473000 8 105 5.18039e-06 6.3136e-06 0.278610 1 0 GOLGA4 2803 broad.mit.edu 37 3 37368937 37368937 + Missense_Mutation SNP C C A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr3:37368937C>A ENST00000361924.2 + 14 5934 c.5560C>A c.(5560-5562)Caa>Aaa p.Q1854K GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.Q1876K NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1854 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GATTTTGGAGCAAAAGATAAA 0.373000 4 98 0.00909568 0.0107494 0.150653 1 0 BMS1 9790 broad.mit.edu 37 10 43287074 43287074 + Splice_Site SNP G G T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr10:43287074G>T ENST00000374518.4 + 6 699 c.e6-1 NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 CTAATGTTTAGGGTGCCAAGC 0.338000 4 135 0.150653 0.167871 0.150653 1 0 TRPC4 7223 broad.mit.edu 37 13 38357334 38357334 + Missense_Mutation SNP G G A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr13:38357334G>A ENST00000379705.3 - 2 994 c.137C>T c.(136-138)gCc>gTc p.A46V TRPC4_ENST00000358477.2_Missense_Mutation_p.A46V|TRPC4_ENST00000426868.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379679.1_Missense_Mutation_p.A46V|TRPC4_ENST00000338947.5_Missense_Mutation_p.A46V|TRPC4_ENST00000355779.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379673.2_Missense_Mutation_p.A46V|TRPC4_ENST00000379681.3_Missense_Mutation_p.A46V|TRPC4_ENST00000447043.1_Missense_Mutation_p.A46V Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 46 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.A46V(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTTGACACTGGCATAATCTCC 0.403000 5 339 0 0 0.184627 0 0 ZNF790 388536 broad.mit.edu 37 19 37309574 37309574 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr19:37309574C>T ENST00000356725.4 - 5 1792 c.1672G>A c.(1672-1674)Gat>Aat p.D558N CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGTTCTGCATCAGTATGAATT 0.358000 8 239 0 0 0.278610 0 0 TRAV9-2 0 broad.mit.edu 37 14 22409767 22409767 + RNA SNP G G A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr14:22409767G>A ENST00000390441.2 + 0 313 GCCACATACCGTAAAGAAACC 0.483000 15 99 0 0 0.520397 0 0 OR52N1 79473 broad.mit.edu 37 11 5809691 5809691 + Missense_Mutation SNP A A G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr11:5809691A>G ENST00000317078.1 - 1 355 c.356T>C c.(355-357)cTc>cCc p.L119P TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) CAGGGCCATGAGCATGAGCAC 0.488000 3 179 0 0 0.115264 0 0 PDZD8 118987 broad.mit.edu 37 10 119043929 119043929 + Missense_Mutation SNP C C T TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr10:119043929C>T ENST00000334464.5 - 5 2554 c.2315G>A c.(2314-2316)cGc>cAc p.R772H PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 772 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) ACTCAGATTGCGTAGTGCGGT 0.413000 4 157 0 0 0.150653 0 0 SMUG1 23583 broad.mit.edu 37 12 54576295 54576295 + Missense_Mutation SNP T T A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr12:54576295T>A ENST00000508394.2 - 3 460 c.398A>T c.(397-399)cAg>cTg p.Q133L SMUG1_ENST00000243112.5_Missense_Mutation_p.Q133L|SMUG1_ENST00000514196.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514685.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000513838.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000337581.3_Missense_Mutation_p.Q133L|SMUG1_ENST00000506595.1_Missense_Mutation_p.Q133L|SMUG1_ENST00000401977.2_Missense_Mutation_p.Q133L NM_001243787.1|NM_001243788.1|NM_014311.2 NP_001230716.1|NP_001230717.1|NP_055126.1 Q53HV7 SMUG1_HUMAN single-strand-selective monofunctional uracil-DNA glycosylase 1 133 Missing (in Ref. 3; BAC03670). depyrimidination nucleolus|nucleoplasm DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity kidney(1)|large_intestine(4)|lung(1) 6 CACTTCTGACTGTGGGCACTC 0.562000 Base excision repair (BER), DNA glycosylases 20 313 0 0 0.557998 0 0 MICAL1 64780 broad.mit.edu 37 6 109769507 109769507 + Missense_Mutation SNP A A G TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr6:109769507A>G ENST00000368952.4 - 13 2101 c.1811T>C c.(1810-1812)gTg>gCg p.V604A MICAL1_ENST00000358807.3_Missense_Mutation_p.V585A|MICAL1_ENST00000358577.3_Missense_Mutation_p.V499A Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 585 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TGCAGACACCACCGGTGTGAT 0.607000 7 392 0 0 0.335167 0 0 THOC5 8563 broad.mit.edu 37 22 29939458 29939458 + Missense_Mutation SNP G G A TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr22:29939458G>A ENST00000490103.1 - 4 436 c.314C>T c.(313-315)gCc>gTc p.A105V THOC5_ENST00000397871.1_Missense_Mutation_p.A105V|THOC5_ENST00000397872.1_Missense_Mutation_p.A105V|THOC5_ENST00000397873.2_Missense_Mutation_p.A105V NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 105 Interaction with CSF1R (By similarity).|Interaction with THOC7. intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTGATGTGGGCTAATCGGTT 0.438000 4 168 0 0 0.184627 0 0 LINC00613 0 broad.mit.edu 37 4 136806779 136806782 + RNA DEL TGTG TGTG - rs72272662 TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr4:136806779_136806782delTGTG ENST00000504365.1 - 0 120 NR_103762.1 GAATACATCCtgtgtgtgtgtgtg 0.426 2 4 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113698631 113698632 + In_Frame_Ins INS - - GCC rs34838882 by1000genomes TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr5:113698631_113698632insGCC ENST00000512097.3 + 2 1177_1178 c.159_160insGCC c.(157-162)gcccgc>gcGCCccgc p.53_54AR>APR KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 53 Poly-Ala. integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) CTGCAGCCGCTGCCGCCGCCGC 0.703 3 4 --- --- --- --- TBC1D3P5 0 broad.mit.edu 37 17 25754047 25754047 + RNA DEL T T - TCGA-BJ-A0ZG-01A-11D-A10S-08 TCGA-BJ-A0ZG-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 36359097-f78d-46ea-9944-0f763b96f6dc 00b180fc-6158-4ed3-a8b3-2ef314e66bd1 g.chr17:25754047delT ENST00000586223.1 + 0 1595 NR_033892.1 GACGCTGTTCTTttttttttt 0.453 3 6 --- --- --- ---