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 APOB 338 broad.mit.edu 37 2 21229684 21229684 + Silent SNP G G T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:21229684G>T ENST00000233242.1 - 26 10183 c.10056C>A c.(10054-10056)acC>acA p.T3352T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3352 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTTCAGCATTGGTATTCAGTG 0.368000 38 58 6.05902e-23 6.55029e-23 1 1 0 LCT 3938 broad.mit.edu 37 2 136564700 136564700 + Nonsense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:136564700G>A ENST00000264162.2 - 9 4181 c.4171C>T c.(4171-4173)Cag>Tag p.Q1391* NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1391 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCCTCACCTGATATGCAGCA 0.572000 19 19 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204587841 204587841 + Missense_Mutation SNP C C T rs138573874 TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:204587841C>T ENST00000367175.1 - 1 3492 c.1280G>A c.(1279-1281)cGa>cAa p.R427Q LRRN2_ENST00000367177.3_Missense_Mutation_p.R427Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R427Q O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 427 Ig-like C2-type. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGGGAAGCTTCGTGGGGAGAT 0.652000 8 14 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53766101 53766101 + Missense_Mutation SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr3:53766101A>G ENST00000288139.3 + 19 2643 c.2525A>G c.(2524-2526)gAt>gGt p.D842G CACNA1D_ENST00000350061.5_Missense_Mutation_p.D822G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.D822G NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 822 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCGCCTTGCGATGTGCCAGGT 0.557000 3 41 0 0 1 0 0 TMEM79 84283 broad.mit.edu 37 1 156261208 156261208 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:156261208G>A ENST00000405535.2 + 4 1175 c.1004G>A c.(1003-1005)cGc>cAc p.R335H C1orf85_ENST00000472870.1_Intron|TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.R335H|TMEM79_ENST00000357501.2_Silent_p.P96P NM_032323.2 NP_115699.1 Q9BSE2 TMM79_HUMAN transmembrane protein 79 335 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1) 21 Hepatocellular(266;0.158) GCCGTGGGCCGCTCCTTCCGA 0.587000 4 93 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75893695 75893695 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr6:75893695G>A ENST00000322507.8 - 9 1472 c.1163C>T c.(1162-1164)aCg>aTg p.T388M COL12A1_ENST00000416123.2_Missense_Mutation_p.T388M|COL12A1_ENST00000483888.2_Missense_Mutation_p.T388M|COL12A1_ENST00000345356.6_Intron NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 388 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AACACTGAGCGTGGTTGTCTG 0.512000 5 112 0 0 1 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102294652 102294652 + RNA SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr15:102294652G>A ENST00000561463.1 + 0 2698 CAGAGCTGCTGTCCAACCTGC 0.592000 5 5 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41792302 41792302 + Silent SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:41792302A>G ENST00000396930.3 - 18 3979 c.3436T>C c.(3436-3438)Ttg>Ctg p.L1146L KAT6A_ENST00000406337.1_Silent_p.L1146L|KAT6A_ENST00000265713.2_Silent_p.L1146L NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1146 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding TTCTTTTTCAAAGGTGTGGAT 0.428000 36 184 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978220 45978220 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr21:45978220G>A ENST00000391620.1 - 1 423 c.379C>T c.(379-381)Ccc>Tcc p.P127S TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 127 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 GAgcagacgggcacacagcag 0.657000 4 174 0 0 1 0 0 OR7G2 390882 broad.mit.edu 37 19 9213131 9213131 + Silent SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr19:9213131C>T ENST00000305456.2 - 1 851 c.852G>A c.(850-852)gtG>gtA p.V284V NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 263 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 AGTCAGTAACCACAGAACTAA 0.468000 3 45 0 0 1 0 0 SKIV2L2 23517 broad.mit.edu 37 5 54674238 54674238 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr5:54674238T>G ENST00000230640.5 + 17 2161 c.1907T>G c.(1906-1908)tTg>tGg p.L636W SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L535W NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 636 maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CTTGCCAAATTGGGTAAAGAA 0.313000 7 67 0 0 1 0 0 GGT3P 2679 broad.mit.edu 37 22 18769203 18769203 + RNA SNP G G A rs111245818 TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr22:18769203G>A ENST00000412448.1 - 0 1083 AGCCAGCCGCGGCAGGGTCAG 0.637000 6 48 0 0 1 0 0 LZTS3 9762 broad.mit.edu 37 20 3146605 3146605 + Silent SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr20:3146605C>T ENST00000329152.3 - 2 2258 c.861G>A c.(859-861)tcG>tcA p.S287S LZTS3_ENST00000360342.3_Silent_p.S287S|LZTS3_ENST00000337576.5_Silent_p.S287S NM_014731.2 NP_055546.1 TAGATGACGACGACCCACTCT 0.692000 12 32 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66923631 66923631 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr12:66923631G>A ENST00000359742.4 - 5 722 c.482C>T c.(481-483)aCc>aTc p.T161I GRIP1_ENST00000398016.3_Missense_Mutation_p.T161I|GRIP1_ENST00000286445.7_Missense_Mutation_p.T161I Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 161 PDZ 2. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AAAACCAAAGGTATTGCCTTC 0.343000 7 58 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615553 4615553 + Silent SNP C C A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr11:4615553C>A ENST00000450052.2 + 2 357 c.357C>A c.(355-357)tcC>tcA p.S119S OR52I1_ENST00000530443.2_Silent_p.S95S Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGACAGCTCCATCAGCTTTA 0.512000 4 112 0.014758 0.0151364 1 1 0 UGT3A2 167127 broad.mit.edu 37 5 36049138 36049138 + Silent SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr5:36049138G>A ENST00000282507.3 - 4 797 c.696C>T c.(694-696)ggC>ggT p.G232G UGT3A2_ENST00000513300.1_Silent_p.G198G|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 232 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGGCCTAGAGCCTTCTGTGA 0.438000 34 46 0 0 1 0 0 HOXD11 3237 broad.mit.edu 37 2 176973665 176973665 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr2:176973665G>A ENST00000249504.5 + 2 882 c.812G>A c.(811-813)tGt>tAt p.C271Y HOXD10_ENST00000490088.2_3'UTR|HOXD11_ENST00000498438.1_3'UTR NM_021192.2 NP_067015.2 P31277 HXD11_HUMAN homeobox D11 271 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) AAAAAGCGCTGTCCCTATACC 0.577000 T NUP98 AML 5 69 0 0 1 0 0 TRIM16 10626 broad.mit.edu 37 17 15554470 15554470 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:15554470C>G ENST00000455584.2 - 1 497 c.454G>C c.(454-456)Gac>Cac p.D152H TRIM16_ENST00000336708.7_Missense_Mutation_p.D152H|TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.D152H|TRIM16_ENST00000581224.1_Intron TGGCAACAGTCCTGGCAGATG 0.602000 3 38 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95479758 95479758 + Missense_Mutation SNP A A T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:95479758A>T ENST00000336148.5 - 2 134 c.10T>A c.(10-12)Tct>Act p.S4T RAD54B_ENST00000297592.5_Missense_Mutation_p.S4T NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) GGTGCTGCAGATCGTCTCATA 0.373000 Direct reversal of damage;Homologous recombination 35 53 0 0 1 0 0 AKAP5 9495 broad.mit.edu 37 14 64936274 64936274 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr14:64936274T>G ENST00000320636.5 + 1 2450 c.1162T>G c.(1162-1164)Tat>Gat p.Y388D ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|AKAP5_ENST00000394718.3_Missense_Mutation_p.Y388D P24588 AKAP5_HUMAN A kinase (PRKA) anchor protein 5 388 energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission cytosol adenylate cyclase binding|calmodulin binding endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1) 13 all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449) TTCAGAACAATATGAAACACT 0.338000 7 116 0 0 1 0 0 ACTR3C 653857 broad.mit.edu 37 7 149990455 149990455 + Silent SNP T T C rs146995367 by1000genomes TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr7:149990455T>C ENST00000539352.1 - 3 350 c.99A>G c.(97-99)acA>acG p.T33T ACTR3C_ENST00000252071.4_Silent_p.T33T NM_001164458.1 NP_001157930.1 Q9C0K3 ARP3C_HUMAN ARP3 actin-related protein 3 homolog C (yeast) 33 regulation of actin filament polymerization cytoskeleton actin binding|ATP binding p.T33T(1) TCCCCGTTAATGTACGTTCAC 0.468000 3 15 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73914285 73914285 + Missense_Mutation SNP T T G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:73914285T>G ENST00000586717.1 - 20 2435 c.2162A>C c.(2161-2163)gAc>gCc p.D721A FBF1_ENST00000389570.4_Missense_Mutation_p.D721A|FBF1_ENST00000319129.5_Missense_Mutation_p.D720A A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 720 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 GACCTCTCGGTCCTTCAGCAG 0.672000 3 10 0 0 1 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145773409 145773409 + Missense_Mutation SNP C C T TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:145773409C>T ENST00000276826.5 - 4 1262 c.1061G>A c.(1060-1062)cGg>cAg p.R354Q ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R354Q|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R354Q Q9C0H5 RHG39_HUMAN Rho GTPase activating protein 39 354 Pro-rich. 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 GAGGAACGGCCGGGGCTTACG 0.697000 8 7 0 0 1 0 0 RSG1 79363 broad.mit.edu 37 1 16558644 16558644 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:16558644C>G ENST00000375599.3 - 5 1095 c.676G>C c.(676-678)Gac>Cac p.D226H NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 226 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 TGGGCAACGTCGGCCAGCCCA 0.687000 4 27 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 3 40 0 0 1 0 0 TRIM62 55223 broad.mit.edu 37 1 33612992 33612992 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:33612992G>A ENST00000291416.5 - 5 1447 c.1214C>T c.(1213-1215)aCg>aTg p.T405M TRIM62_ENST00000543586.1_Missense_Mutation_p.T284M NM_018207.2 NP_060677.2 Q9BVG3 TRI62_HUMAN tripartite motif containing 62 405 B30.2/SPRY. intracellular zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393) GTTAAGCCGCGTCCAGGGCTC 0.587000 19 18 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48049618 48049618 + Silent SNP C C A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chrX:48049618C>A ENST00000311798.1 - 7 592 c.540G>T c.(538-540)ctG>ctT p.L180L SSX5_ENST00000347757.1_Silent_p.L139L|SSX5_ENST00000376923.1_Silent_p.L139L NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 CTGAGGGGCGCAGCTGTTTCC 0.463000 7 146 0.0293803 0.0293803 1 1 0 USP32 84669 broad.mit.edu 37 17 58303433 58303433 + Missense_Mutation SNP T T C TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:58303433T>C ENST00000300896.4 - 13 1593 c.1399A>G c.(1399-1401)Act>Gct p.T467A USP32_ENST00000592339.1_Missense_Mutation_p.T137A NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 467 DUSP. protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TCAGATGCAGTAGAAATGTTG 0.433000 32 54 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37769955 37769955 + Missense_Mutation SNP C C G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr22:37769955C>G ENST00000402918.1 - 3 2405 c.1620G>C c.(1618-1620)gaG>gaC p.E540D RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.E540D NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 540 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CCTTGTCCACCTCCTTGGCAA 0.642000 6 76 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74621461 74621461 + Missense_Mutation SNP A A G TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:74621461A>G ENST00000156626.7 - 9 1953 c.1754T>C c.(1753-1755)aTc>aCc p.I585T NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 585 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GTACAGCCGGATTATCCCTTC 0.537000 15 18 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282021 152282021 + Missense_Mutation SNP G G A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr1:152282021G>A ENST00000368799.1 - 3 5376 c.5341C>T c.(5341-5343)Cgc>Tgc p.R1781C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1781 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R1781C(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCCTGTGCGTCCATGGGCG 0.602000 Ichthyosis 5 196 0 0 1 0 0 CA2 760 broad.mit.edu 37 8 86389491 86389491 + Missense_Mutation SNP T T A TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr8:86389491T>A ENST00000285379.5 + 6 880 c.650T>A c.(649-651)gTc>gAc p.V217D NM_000067.2 NP_000058.1 P00918 CAH2_HUMAN carbonic anhydrase II 217 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCCATCAGCGTCAGCAGCGAG 0.517000 59 80 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 4 2 --- --- --- --- TMEM120A 83862 broad.mit.edu 37 7 75616893 75616893 + RNA DEL C C - TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr7:75616893delC ENST00000493111.2 - 0 811 TMEM120A_ENST00000338761.4_RNA Q9BXJ8 T120A_HUMAN transmembrane protein 120A integral to membrane GAAGGTGAGGCCCCGCCACAT 0.632 2 4 --- --- --- --- ACER2 340485 broad.mit.edu 37 9 19446412 19446412 + Frame_Shift_Del DEL A A - TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr9:19446412delA ENST00000340967.2 + 5 663 c.637delA c.(637-639)tgfs p.M213fs NM_001010887.2 NP_001010887.2 Q5QJU3 ACER2_HUMAN alkaline ceramidase 2 213 ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process integral to Golgi membrane ceramidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1) 13 CCTGCACTGCATGTGGTAAGC 0.592 8 85 --- --- --- --- SYT16 83851 broad.mit.edu 37 14 62542092 62542093 + Frame_Shift_Ins INS - - C TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr14:62542092_62542093insC ENST00000430451.2 + 3 1173_1174 c.976_977insC c.(976-978)catfs p.H326fs RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Frame_Shift_Ins_p.H326fs NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 326 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TGACAGCTCCTCCATGTGGAGT 0.475 57 50 --- --- --- --- BRD7 29117 broad.mit.edu 37 16 50357568 50357571 + Frame_Shift_Del DEL ACAT ACAT - rs78557784 byFrequency TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr16:50357568_50357571delACAT ENST00000394688.3 - 12 1529_1532 c.1370_1373delATGT c.(1369-1374)tcfs p.YV457fs BRD7_ENST00000394689.2_Frame_Shift_Del_p.YV457fs Q9NPI1 BRD7_HUMAN bromodomain containing 7 457 cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) ATCTGCCATGACATACGGATAATC 0.436 7 127 --- --- --- --- FLII 2314 broad.mit.edu 37 17 18161946 18161946 + Frame_Shift_Del DEL A A - TCGA-SA-A6C2-01A-11D-A35I-08 TCGA-SA-A6C2-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b3ca65fd-7d56-476d-86c9-8a7d2eab5435 4354bce8-2d8c-4cd4-86c5-f9f7bb0aaf2c g.chr17:18161946delA ENST00000327031.4 - 1 284 c.59delT c.(58-60)tcfs p.F20fs FLII_ENST00000545457.2_Frame_Shift_Del_p.F20fs|FLII_ENST00000379450.4_5'UTR|FLII_ENST00000578558.1_Frame_Shift_Del_p.F20fs|FLII_ENST00000584444.1_5'UTR NM_002018.3 NP_002009.1 Q13045 FLII_HUMAN flightless I homolog (Drosophila) 20 Interaction with LRRFIP1 and LRRFIP2. multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus actin binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_neural(463;0.228) GCTCACCTTGAAGTCGTTGCC 0.761 2 4 --- --- --- ---