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 OBSCN 84033 broad.mit.edu 37 1 228505606 228505606 + Silent SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr1:228505606G>A ENST00000570156.2 + 64 16808 c.16734G>A c.(16732-16734)aaG>aaA p.K5578K OBSCN_ENST00000366709.4_Silent_p.K1740K|OBSCN_ENST00000422127.1_Silent_p.K4621K|OBSCN_ENST00000366707.4_Silent_p.K2255K|OBSCN_ENST00000284548.11_Silent_p.K4621K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4621 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGCCACCGAAGCCTGTGCCTC 0.662000 5 9 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 44 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36995325 36995325 + Missense_Mutation SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr6:36995325G>A ENST00000274963.8 + 15 1897 c.1726G>A c.(1726-1728)Gtg>Atg p.V576M NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 576 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TGACCCCCTCGTGCTCTATGT 0.662000 5 69 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + Silent SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 35 0 0 1 0 0 MDK 4192 broad.mit.edu 37 11 46404253 46404253 + Missense_Mutation SNP C C A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr11:46404253C>A ENST00000405308.2 + 4 790 c.361C>A c.(361-363)Cgc>Agc p.R121S MDK_ENST00000395566.4_Missense_Mutation_p.R121S|MDK_ENST00000395569.4_Missense_Mutation_p.R65S|MDK_ENST00000533283.1_3'UTR|MDK_ENST00000359803.3_Missense_Mutation_p.R121S|MDK_ENST00000407067.1_Missense_Mutation_p.R121S|MDK_ENST00000395565.1_Missense_Mutation_p.R121S NM_001270550.1 NP_001257479.1 P21741 MK_HUMAN midkine (neurite growth-promoting factor 2) 121 adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction extracellular region growth factor activity|heparin binding lung(1) 1 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) GGAGACCATCCGCGTCACCAA 0.652000 3 37 6.4e-05 6.93333e-05 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38840747 38840747 + Missense_Mutation SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr6:38840747G>A ENST00000359357.3 + 49 6906 c.6652G>A c.(6652-6654)Gtt>Att p.V2218I DNAH8_ENST00000449981.2_Missense_Mutation_p.V2435I|DNAH8_ENST00000441566.1_Missense_Mutation_p.V2182I dynein, axonemal, heavy chain 8 p.V2218I(2) 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 CTTAAATTCCGTTTTGGATGA 0.383000 13 74 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675529 73675529 + Silent SNP A A G TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr2:73675529A>G ENST00000264448.6 + 8 1983 c.1872A>G c.(1870-1872)agA>agG p.R624R ALMS1_ENST00000409009.1_Silent_p.R582R|ALMS1_ENST00000377715.1_Silent_p.R624R NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 624 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTCACATAGAGAGAAGCCTG 0.468000 11 104 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474156 44474156 + Silent SNP C C T TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr1:44474156C>T ENST00000372310.3 - 5 624 c.459G>A c.(457-459)acG>acA p.T153T SLC6A9_ENST00000372306.3_Silent_p.T153T|SLC6A9_ENST00000360584.2_Silent_p.T226T|SLC6A9_ENST00000357730.2_Silent_p.T172T|SLC6A9_ENST00000372307.3_Silent_p.T88T|SLC6A9_ENST00000475075.2_Silent_p.T42T|SLC6A9_ENST00000537678.1_Silent_p.T88T NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 226 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) CGCAGTCATGCGTGTTCCAGG 0.592000 3 48 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 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) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 6 220 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 7 120 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085940 11085942 + RNA DEL CAC CAC - TCGA-W2-A7H5-01B-11D-A35I-08 TCGA-W2-A7H5-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 906c1c9f-7beb-4389-a3d4-56025e606b9f 501494b0-58f4-47d0-a5f3-98c2ffdbefee g.chr21:11085940_11085942delCAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccaccaccatcaccaccaccacc 0.532 3 5 --- --- --- ---