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 KIAA1429 25962 broad.mit.edu 37 8 95508670 95508670 + Missense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr8:95508670C>A ENST00000297591.5 - 18 4344 c.4269G>T c.(4267-4269)gaG>gaT p.E1423D KIAA1429_ENST00000437199.1_3'UTR NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 1423 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TATGAGCTCCCTCTACTTCCA 0.383000 3 64 0.115264 0.13743 0.115264 1 0 ABCC2 1244 broad.mit.edu 37 10 101596001 101596001 + Missense_Mutation SNP A A T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr10:101596001A>T ENST00000370449.4 + 25 3681 c.3568A>T c.(3568-3570)Att>Ttt p.I1190F NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1190 ABC transmembrane type-1 2. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TGAGGTGAGGATTGACACCAA 0.483000 11 64 0 0 0.069234 0 0 VAC14 55697 broad.mit.edu 37 16 70815792 70815792 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr16:70815792G>A ENST00000261776.5 - 8 1186 c.926C>T c.(925-927)gCc>gTc p.A309V NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 309 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GTCATCGTAGGCCAAGCAGGG 0.562000 3 69 0 0 0.115264 0 0 HRNR 388697 broad.mit.edu 37 1 152192638 152192638 + Silent SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr1:152192638G>A ENST00000368801.2 - 3 1542 c.1467C>T c.(1465-1467)tcC>tcT p.S489S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 489 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCGTGGCCGGAGGAGTGAC 0.542000 4 305 0 0 0.014758 0 0 OR1N2 138882 broad.mit.edu 37 9 125316420 125316420 + Silent SNP T T C TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr9:125316420T>C ENST00000373688.2 + 1 1030 c.972T>C c.(970-972)agT>agC p.S324S NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 324 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 TTTTTGTCAGTGGAAAAACAT 0.393000 12 44 0 0 0.093190 0 0 CUX1 1523 broad.mit.edu 37 7 101870830 101870830 + Missense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr7:101870830C>A ENST00000360264.3 + 21 3367 c.3347C>A c.(3346-3348)cCg>cAg p.P1116Q CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P1105Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.P1003Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P947Q|CUX1_ENST00000550008.2_Missense_Mutation_p.P1049Q|CUX1_ENST00000549414.2_Missense_Mutation_p.P1083Q NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1105 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CCCACAACCCCGCTGCCTCTC 0.642000 3 58 0.115264 0.13743 0.115264 1 0 MUC16 94025 broad.mit.edu 37 19 9069428 9069428 + Missense_Mutation SNP G G T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr19:9069428G>T ENST00000397910.4 - 3 18221 c.18018C>A c.(18016-18018)caC>caA p.H6006Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6008 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTCTGAAAAGTGAATTGTCT 0.458000 24 153 2.39556e-15 3.37557e-15 0.076483 1 0 RNF34 80196 broad.mit.edu 37 12 121855480 121855480 + Silent SNP C C T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr12:121855480C>T ENST00000361234.5 + 3 571 c.399C>T c.(397-399)ccC>ccT p.P133P RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392464.2_Silent_p.P133P|RNF34_ENST00000392465.3_Silent_p.P134P NM_025126.3 NP_079402.2 Q969K3 RNF34_HUMAN ring finger protein 34, E3 ubiquitin protein ligase 133 SAP 1. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding breast(1)|large_intestine(1) 2 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) GAAATATACCCATAGATACTT 0.453000 4 71 0 0 0.009096 0 0 PSG6 5675 broad.mit.edu 37 19 43411791 43411791 + Missense_Mutation SNP G G C TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr19:43411791G>C ENST00000187910.2 - 4 987 c.922C>G c.(922-924)Caa>Gaa p.Q308E PSG6_ENST00000292125.2_Missense_Mutation_p.Q308E|PSG6_ENST00000402603.4_Intron NM_001031850.3 NP_001027020.1 pregnancy specific beta-1-glycoprotein 6 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 Prostate(69;0.00899) ATTTCACATTGATAGGGTCCT 0.507000 3 206 0 0 0.009096 0 0 MT-ND4 4538 broad.mit.edu 37 MT 11556 11556 + Missense_Mutation SNP T T C TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chrM:11556T>C ENST00000361381.2 + 1 797 c.797T>C c.(796-798)cTa>cCa p.266_266insP mitochondrially encoded NADH dehydrogenase 4 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1) 13 TGTACTATCCCTATGAGGCAT 0.448000 10 3 0 0 0.069234 0 0 FAM135B 51059 broad.mit.edu 37 8 139164287 139164287 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr8:139164287A>G ENST00000395297.1 - 13 2601 c.2431T>C c.(2431-2433)Tct>Cct p.S811P NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 811 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGAGAGCAAGATCCTGGGGAA 0.532000 HNSCC(54;0.14) 4 56 0 0 0.009096 0 0 MYH8 4626 broad.mit.edu 37 17 10304037 10304037 + Silent SNP C C T rs78443907 by1000genomes TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr17:10304037C>T ENST00000403437.2 - 27 3499 c.3405G>A c.(3403-3405)gcG>gcA p.A1135A CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1135 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GCTGCTTCTCCGCTTTGGCTC 0.557000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 4 104 0 0 0.009096 0 0 ALPK1 80216 broad.mit.edu 37 4 113353377 113353377 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr4:113353377G>A ENST00000458497.1 + 11 2953 c.2674G>A c.(2674-2676)Gta>Ata p.V892I ALPK1_ENST00000504176.2_Missense_Mutation_p.V814I|ALPK1_ENST00000177648.9_Missense_Mutation_p.V892I NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 892 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAATTCCTCTGTAAGCGGTAA 0.552000 6 102 0 0 0.021553 0 0 CYLC2 1539 broad.mit.edu 37 9 105767017 105767017 + Missense_Mutation SNP C C A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr9:105767017C>A ENST00000374798.3 + 4 291 c.221C>A c.(220-222)cCa>cAa p.P74Q CYLC2_ENST00000487798.1_Missense_Mutation_p.P74Q NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 74 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) CGTAGACAACCATTATGGATG 0.378000 14 26 6.31663e-08 8.51371e-08 0.132662 1 0 EMC4 51234 broad.mit.edu 37 15 34520681 34520681 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr15:34520681A>G ENST00000267750.4 + 4 523 c.407A>G c.(406-408)tAt>tGt p.Y136C EMC4_ENST00000249209.4_Intron|EMC4_ENST00000559421.1_Intron|EMC4_ENST00000559078.1_Intron|EMC4_ENST00000557879.1_3'UTR NM_016454.2 NP_057538.1 ER membrane protein complex subunit 4 GGTTTGGTCTATCTCATTGGG 0.443000 32 107 0 0 0.134883 0 0 SLC6A8 6535 broad.mit.edu 37 X 152956776 152956776 + Missense_Mutation SNP A A G TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chrX:152956776A>G ENST00000253122.5 + 3 888 c.412A>G c.(412-414)Atg>Gtg p.M138V SLC6A8_ENST00000430077.2_Missense_Mutation_p.M23V NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 138 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) CTACGCCTCCATGGTGATCGT 0.607000 9 10 0 0 0.047766 0 0 UBBP4 0 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 46 0.00909568 0.0117486 0.009096 1 0 ZBTB39 9880 broad.mit.edu 37 12 57398352 57398352 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr12:57398352G>A ENST00000300101.2 - 2 435 c.350C>T c.(349-351)gCc>gTc p.A117V NM_014830.2 NP_055645.1 O15060 ZBT39_HUMAN zinc finger and BTB domain containing 39 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 AGAGTGACAGGCCTGGAGGAG 0.557000 13 56 0 0 0.105934 0 0 THSD1 55901 broad.mit.edu 37 13 52952229 52952229 + Missense_Mutation SNP G G A rs144799411 by1000genomes TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr13:52952229G>A ENST00000349258.4 - 4 2261 c.1717C>T c.(1717-1719)Cgc>Tgc p.R573C THSD1_ENST00000544466.1_Missense_Mutation_p.R247C|THSD1_ENST00000258613.4_Missense_Mutation_p.R626C NM_199263.2 NP_954872.1 Q9NS62 THSD1_HUMAN thrombospondin, type I, domain containing 1 626 extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TGTGACTTGCGGATCAGAGTC 0.622000 5 60 0 0 0.014758 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 35 0 0 0.074837 0 0 OR6S1 341799 broad.mit.edu 37 14 21108936 21108936 + Silent SNP C C T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr14:21108936C>T ENST00000320704.3 - 1 914 c.915G>A c.(913-915)aaG>aaA p.K305K NM_001001968.1 NP_001001968.1 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, member 1 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TAAACATGTCCTTCAAAGCTT 0.398000 4 129 0 0 0.009096 0 0 MT-ND5 4540 broad.mit.edu 37 MT 13145 13145 + Missense_Mutation SNP G G A TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chrM:13145G>A ENST00000361567.2 + 1 809 c.809G>A c.(808-810)aGc>aAc p.S270N P03915 NU5M_HUMAN mitochondrially encoded NADH dehydrogenase 5 270 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7) 74 NADH(DB00157) AGCAGAAAATAGCCCACTAAT 0.483000 7 12 0 0 0.038147 0 0 ARAP3 64411 broad.mit.edu 37 5 141051756 141051756 + Missense_Mutation SNP C C T TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr5:141051756C>T ENST00000239440.4 - 10 1563 c.1498G>A c.(1498-1500)Gcc>Acc p.A500T ARAP3_ENST00000513878.1_Missense_Mutation_p.A162T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A422T NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 500 Arf-GAP. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCCGGTTGGCCCGATTAGAC 0.622000 4 215 0 0 0.009096 0 0 STEAP2-AS1 0 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 2 4 --- --- --- --- PRSS3P2 0 broad.mit.edu 37 7 142482025 142482025 + RNA DEL A A - TCGA-EL-A3H4-01A-11D-A202-08 TCGA-EL-A3H4-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab87a622-eaae-46ec-a95e-100c1b13cf40 0f25a77c-f63d-48e3-926d-dc04145d4501 g.chr7:142482025delA ENST00000603901.1 + 0 591 NR_001296.3 TGCAGTGCCCACATGGAGAAG 0.572 4 3 --- --- --- ---