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 ZP4 57829 broad.mit.edu 37 1 238048465 238048465 + Splice_Site SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:238048465C>T ENST00000366570.4 - 9 1469 c.1311_splice c.e9+1 p.P437_splice RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 437 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AACATCCTACCGGTCCCCTGA 0.522000 22 42 0 0 1 0 0 C2orf54 79919 broad.mit.edu 37 2 241828002 241828002 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:241828002C>T ENST00000307486.8 - 4 609 c.511G>A c.(511-513)Gcc>Acc p.A171T C2orf54_ENST00000388934.4_Missense_Mutation_p.A320T|C2orf54_ENST00000402775.2_Missense_Mutation_p.A152T Q08AI8 CB054_HUMAN chromosome 2 open reading frame 54 320 haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1) 6 all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) CGGTACACGGCGCCCTGCAGT 0.697000 3 27 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64721964 64721964 + Silent SNP C C A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:64721964C>A ENST00000338957.4 + 5 1453 c.1386C>A c.(1384-1386)gtC>gtA p.V462V ZC3H12B_ENST00000423889.3_Silent_p.V451V NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 451 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTAGTTCTGTCCCCTCGCTTG 0.607000 12 116 0.38729 0.38729 1 1 0 PARP1 142 broad.mit.edu 37 1 226553702 226553702 + Missense_Mutation SNP T T C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:226553702T>C ENST00000366794.5 - 18 2601 c.2458A>G c.(2458-2460)Aac>Gac p.N820D PARP1_ENST00000490921.1_5'UTR NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 820 PARP catalytic. cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) GCATGAGTGTTCTTAACATAC 0.468000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 5 36 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874112 36874112 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:36874112C>T ENST00000301807.6 - 21 7077 c.5180G>A c.(5179-5181)cGc>cAc p.R1727H TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277H NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2277 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCGGCGGTTGCGTGCGCTTTC 0.478000 19 36 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199453 4199453 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr4:4199453G>A ENST00000296358.4 - 5 1132 c.1108C>T c.(1108-1110)Cgg>Tgg p.R370W NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 370 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CTGTAAATCCGGATTCCAGCC 0.582000 6 83 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47384261 47384261 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:47384261G>A ENST00000232766.5 + 9 1299 c.1279G>A c.(1279-1281)Gtc>Atc p.V427I KLHL18_ENST00000455924.2_Missense_Mutation_p.V315I NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 427 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TGGGGTTACAGTCTTTGAGGG 0.522000 24 50 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791259 15791259 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr19:15791259C>T ENST00000550308.1 + 5 835 c.455C>T c.(454-456)aCg>aTg p.T152M CYP4F12_ENST00000324632.9_Missense_Mutation_p.T152M NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 p.T152M(2) NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CGGATGCTGACGCCCGCCTTC 0.542000 4 36 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98001915 98001915 + Missense_Mutation SNP A A G TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:98001915A>G ENST00000355273.2 + 1 184 c.184A>G c.(184-186)Atc>Gtc p.I62V RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 ACAACTTCACATCCCCATGTA 0.413000 108 196 0 0 1 0 0 PNMA3 29944 broad.mit.edu 37 X 152226071 152226071 + Missense_Mutation SNP T T C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:152226071T>C ENST00000447306.1 + 2 995 c.659T>C c.(658-660)cTc>cCc p.L220P PNMA3_ENST00000370264.4_Missense_Mutation_p.L220P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L220P NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 220 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) gtcagtgggctccgggccagc 0.592000 8 219 0 0 1 0 0 ADCY9 115 broad.mit.edu 37 16 4016491 4016491 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:4016491G>A ENST00000294016.3 - 11 3885 c.3347C>T c.(3346-3348)gCg>gTg p.A1116V NM_001116.3 NP_001107.2 O60503 ADCY9_HUMAN adenylate cyclase 9 1116 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CCCTGACGCCGCCATGTACGT 0.622000 8 118 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281660 103281660 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:103281660G>A ENST00000233969.2 + 3 997 c.855G>A c.(853-855)ggG>ggA p.G285G NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 285 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GAATCGGTGGGGTGCTGATTG 0.443000 61 69 0 0 1 0 0 CDC5L 988 broad.mit.edu 37 6 44387260 44387260 + Missense_Mutation SNP G G C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr6:44387260G>C ENST00000371477.3 + 9 1466 c.1167G>C c.(1165-1167)gaG>gaC p.E389D NM_001253.3 NP_001244.1 Q99459 CDC5L_HUMAN cell division cycle 5-like 389 Interaction with PPP1R8. cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus DNA binding|RNA binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4) 29 all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CATTGCATGAGAGTGACTTCT 0.438000 17 62 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40895408 40895408 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr19:40895408G>A ENST00000291823.2 - 1 686 c.402C>T c.(400-402)caC>caT p.H134H NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 134 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGAGATCAGCGTGGATGATAG 0.627000 4 30 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21563346 21563346 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr13:21563346G>A ENST00000382592.4 - 4 978 c.573C>T c.(571-573)taC>taT p.Y191Y LATS2_ENST00000542899.1_Silent_p.Y191Y|LATS2_ENST00000472754.1_5'UTR NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 191 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTGGGCCCTCGTAGGGGGTAC 0.687000 11 103 0 0 1 0 0 BCL6 604 broad.mit.edu 37 3 187447676 187447676 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:187447676G>A ENST00000406870.2 - 5 883 c.517C>T c.(517-519)Cct>Tct p.P173S RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.P173S|BCL6_ENST00000450123.2_Missense_Mutation_p.P173S NM_001706.4 NP_001697.2 P41182 BCL6_HUMAN B-cell CLL/lymphoma 6 173 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TCACACCCAGGGGCGCTCCTC 0.602000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 6 139 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299120 125299120 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:125299120C>T ENST00000538699.1 - 2 868 c.788G>A c.(787-789)cGc>cAc p.R263H DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 263 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCGTACCTTGCGGTTGCTGGG 0.637000 5 91 0 0 1 0 0 SDHC 6391 broad.mit.edu 37 1 161326623 161326623 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:161326623G>A ENST00000367975.2 + 5 547 c.398G>A c.(397-399)cGa>cAa p.R133Q SDHC_ENST00000470743.2_3'UTR|SDHC_ENST00000392169.2_Missense_Mutation_p.R80Q|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R99Q|SDHC_ENST00000342751.4_Intron NM_003001.3 NP_002992.1 Q99643 C560_HUMAN succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 133 respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex electron carrier activity|heme binding|succinate dehydrogenase activity urinary_tract(1) 1 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) Succinic acid(DB00139) AATGGGATCCGACACTTGGTA 0.473000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Carney-Stratakis syndrome 4 92 0 0 1 0 0 ASPHD2 57168 broad.mit.edu 37 22 26830386 26830386 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr22:26830386G>A ENST00000215906.5 + 2 1243 c.805G>A c.(805-807)Gcg>Acg p.A269T NM_020437.4 NP_065170.2 Q6ICH7 ASPH2_HUMAN aspartate beta-hydroxylase domain containing 2 269 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity p.A243T(1) endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 16 TTTTGGGAACGCGTGCATCTC 0.547000 6 199 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49126932 49126932 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:49126932G>A ENST00000055335.6 + 1 616 c.600G>A c.(598-600)ccG>ccA p.P200P PPP1R3F_ENST00000438316.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000495799.1_Intron NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 200 CBM21. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) GCTACGTCCCGCGCAGCCCGC 0.706000 21 21 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116931263 116931263 + Silent SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr9:116931263C>T ENST00000356083.3 + 3 1819 c.1428C>T c.(1426-1428)acC>acT p.T476T NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 476 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CTGCCCGCACCAGCACCCACA 0.567000 134 191 0 0 1 0 0 SETD3 84193 broad.mit.edu 37 14 99865139 99865139 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr14:99865139G>A ENST00000331768.5 - 13 1821 c.1662C>T c.(1660-1662)aaC>aaT p.N554N NM_032233.2 NP_115609.2 Q86TU7 SETD3_HUMAN SET domain containing 3 554 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866) AGTTTTCACCGTTTACAAGCC 0.468000 4 145 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26639240 26639240 + Missense_Mutation SNP C C G TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr12:26639240C>G ENST00000381340.3 - 41 6024 c.5608G>C c.(5608-5610)Gct>Cct p.A1870P NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1870 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCTGAAGAAGCTTCTGTTAAT 0.363000 12 45 0 0 1 0 0 CHRNA1 1134 broad.mit.edu 37 2 175613522 175613522 + Missense_Mutation SNP A A G TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:175613522A>G ENST00000348749.5 - 8 1105 c.1028T>C c.(1027-1029)aTc>aCc p.I343T CHRNA1_ENST00000261007.5_Missense_Mutation_p.I368T|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.I261T NM_000079.3 NP_000070.1 P02708 ACHA_HUMAN cholinergic receptor, nicotinic, alpha 1 (muscle) 368 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4) 37 GAAAAACATGATATTTGGGAT 0.348000 OREG0015079 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 30 0 0 1 0 0 TBPL2 387332 broad.mit.edu 37 14 55907119 55907119 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr14:55907119C>T ENST00000247219.5 - 1 215 c.145G>A c.(145-147)Gct>Act p.A49T NM_199047.2 NP_950248.1 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 49 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CTCACCTGAGCGGCGCACTGG 0.622000 6 116 0 0 1 0 0 PLAC1 10761 broad.mit.edu 37 X 133700590 133700590 + Silent SNP G G C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:133700590G>C ENST00000359237.4 - 3 408 c.123C>G c.(121-123)ccC>ccG p.P41P PLAC1_ENST00000476971.1_5'UTR NM_021796.3 NP_068568.1 Q9HBJ0 PLAC1_HUMAN placenta-specific 1 41 placenta development extracellular region large_intestine(4)|lung(1)|pancreas(1) 6 Acute lymphoblastic leukemia(192;0.000127) TTAGCATGAAGGGGTGCACTG 0.517000 129 172 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45774700 45774700 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:45774700C>T ENST00000263736.4 - 13 1789 c.1727G>A c.(1726-1728)cGa>cAa p.R576Q SRBD1_ENST00000535761.1_Missense_Mutation_p.R95Q NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 576 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) CTCCGCCTCTCGGAAGCCTTG 0.333000 21 27 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561502 9561502 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr20:9561502C>T ENST00000378429.3 - 5 826 c.280G>A c.(280-282)Gtg>Atg p.V94M PAK7_ENST00000353224.5_Missense_Mutation_p.V94M|PAK7_ENST00000378423.1_Missense_Mutation_p.V94M NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 94 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GAGCGAGTCACCGAGATGTTG 0.517000 82 132 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 26 36 0 0 1 0 0 TPST1 8460 broad.mit.edu 37 7 65705779 65705779 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr7:65705779C>T ENST00000304842.5 + 2 792 c.367C>T c.(367-369)Cgc>Tgc p.R123C TPST1_ENST00000480281.1_Intron NM_003596.3 NP_003587.1 O60507 TPST1_HUMAN tyrosylprotein sulfotransferase 1 123 inflammatory response|peptidyl-tyrosine sulfation Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 AGAGAAGATCCGCCTGGATGA 0.512000 29 42 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65260496 65260496 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr14:65260496G>A ENST00000389722.3 - 13 1938 c.1885C>T c.(1885-1887)Cgg>Tgg p.R629W SPTB_ENST00000556626.1_Missense_Mutation_p.R629W|SPTB_ENST00000542895.1_Missense_Mutation_p.R629W|SPTB_ENST00000389720.3_Missense_Mutation_p.R629W|SPTB_ENST00000389721.5_Missense_Mutation_p.R629W NM_001024858.2 NP_001020029.1 P11277 SPTB1_HUMAN spectrin, beta, erythrocytic 629 RKA -> ART (in Ref. 1; AAA60578/ AAA60579). actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TGGGCCTTCCGCCCAGCTGCC 0.552000 4 74 0 0 1 0 0 UQCRC1 7384 broad.mit.edu 37 3 48636583 48636583 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:48636583C>T ENST00000203407.5 - 13 1837 c.1421G>A c.(1420-1422)gGc>gAc p.G474D NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 474 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) CCAGAACATGCCGCTACGGAT 0.637000 4 185 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24619441 24619441 + Silent SNP A A T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr14:24619441A>T ENST00000324103.6 + 7 1301 c.981A>T c.(979-981)cgA>cgT p.R327R RNF31_ENST00000559275.1_Silent_p.R176R|RNF31_ENST00000382687.3_Silent_p.R176R NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 327 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) ATCGGCCCCGAGGCTGTAAGG 0.607000 31 48 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500781 26500781 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr10:26500781G>A ENST00000543632.1 + 17 1846 c.1786G>A c.(1786-1788)Ggc>Agc p.G596S MYO3A_ENST00000265944.5_Silent_p.A1580A Q8NEV4 MYO3A_HUMAN myosin IIIA 0 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGTGCTGGGCGGCGGAGAGCC 0.662000 13 43 0 0 1 0 0 NUTM1 256646 broad.mit.edu 37 15 34640764 34640764 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr15:34640764C>T ENST00000537011.1 + 3 1077 c.695C>T c.(694-696)tCc>tTc p.S232F NUTM1_ENST00000333756.4_Missense_Mutation_p.S204F|NUTM1_ENST00000438749.3_Missense_Mutation_p.S222F NUT midline carcinoma, family member 1 GGTGACCGCTCCAAAATTTCC 0.562000 5 66 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1081825 1081825 + Silent SNP C C T rs138705098 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr5:1081825C>T ENST00000264930.5 - 9 1207 c.1164G>A c.(1162-1164)gcG>gcA p.A388A NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 388 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) TCTCCACAAACGCCCCCGCGT 0.662000 8 68 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46747678 46747678 + Missense_Mutation SNP G G C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr11:46747678G>C ENST00000311907.5 + 7 885 c.829G>C c.(829-831)Gcc>Ccc p.A277P F2_ENST00000530231.1_Missense_Mutation_p.A277P NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 277 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GTGCTATGTGGCCGGGAAGCC 0.597000 7 125 0 0 1 0 0 RNF31 55072 broad.mit.edu 37 14 24619440 24619440 + Missense_Mutation SNP G G T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr14:24619440G>T ENST00000324103.6 + 7 1300 c.980G>T c.(979-981)cGa>cTa p.R327L RNF31_ENST00000559275.1_Missense_Mutation_p.R176L|RNF31_ENST00000382687.3_Missense_Mutation_p.R176L NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 327 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GATCGGCCCCGAGGCTGTAAG 0.607000 31 47 1.88708e-17 1.99975e-17 1 1 0 PDHA1 5160 broad.mit.edu 37 X 19368154 19368154 + Nonsense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:19368154C>T ENST00000379806.5 + 4 476 c.331C>T c.(331-333)Cga>Tga p.R111* PDHA1_ENST00000379805.3_Nonsense_Mutation_p.R73*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000422285.2_Nonsense_Mutation_p.R73*|PDHA1_ENST00000545074.1_Nonsense_Mutation_p.R73* NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 73 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) GACTGTACGCCGAATGGAGTT 0.483000 7 145 0 0 1 0 0 SPANXD 64648 broad.mit.edu 37 X 140785691 140785691 + Missense_Mutation SNP G G T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:140785691G>T ENST00000370515.3 - 2 558 c.225C>A c.(223-225)aaC>aaA p.N75K NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) GGTTGATTCTGTTCTTTCGGG 0.443000 22 335 2.27525e-19 2.44762e-19 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 6 31 0 0 1 0 0 PHKB 5257 broad.mit.edu 37 16 47730353 47730353 + Missense_Mutation SNP C C A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:47730353C>A ENST00000455779.1 + 30 3121 c.2936C>A c.(2935-2937)aCg>aAg p.T979K PHKB_ENST00000323584.5_Missense_Mutation_p.T986K|PHKB_ENST00000566044.1_Missense_Mutation_p.T979K|PHKB_ENST00000299167.8_Missense_Mutation_p.T986K Q93100 KPBB_HUMAN phosphorylase kinase, beta 986 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GTTGAAGACACGTTGGGAAAT 0.408000 14 53 2.61681e-11 2.69266e-11 1 1 0 AC008103.5 0 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 8 103 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19168269 19168269 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:19168269G>A ENST00000375371.3 - 5 1566 c.1545C>T c.(1543-1545)ttC>ttT p.F515F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 515 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CGATGCACTCGAAGCAGCAGA 0.597000 24 40 0 0 1 0 0 SSTR4 6754 broad.mit.edu 37 20 23016949 23016949 + Missense_Mutation SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr20:23016949G>A ENST00000255008.3 + 1 893 c.829G>A c.(829-831)Gtg>Atg p.V277M RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 277 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCCTTTCTACGTGGTGCAGCT 0.587000 5 114 0 0 1 0 0 SMAD6 4091 broad.mit.edu 37 15 67073541 67073541 + Missense_Mutation SNP A A T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr15:67073541A>T ENST00000288840.5 + 4 2190 c.1159A>T c.(1159-1161)Atc>Ttc p.I387F SMAD6_ENST00000338426.4_Missense_Mutation_p.I126F NM_005585.4 NP_005576.3 O43541 SMAD6_HUMAN SMAD family member 6 387 MH2. BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis cytosol|transcription factor complex co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding lung(1)|skin(1) 2 GCGCAGCAAGATCGGCTTCGG 0.672000 4 36 0 0 1 0 0 DCN 1634 broad.mit.edu 37 12 91546926 91546926 + Silent SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr12:91546926G>A ENST00000052754.5 - 6 1194 c.693C>T c.(691-693)aaC>aaT p.N231N DCN_ENST00000552962.1_Silent_p.N231N|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Silent_p.N84N|DCN_ENST00000393155.1_Silent_p.N231N|DCN_ENST00000420120.2_Silent_p.N122N|DCN_ENST00000228329.5_Silent_p.N122N|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Silent_p.N84N|DCN_ENST00000456569.2_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 231 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 TGCTGATTTTGTTGCCATCAA 0.358000 8 77 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323107 31323107 + Nonsense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr5:31323107C>T ENST00000265071.2 + 12 2330 c.2065C>T c.(2065-2067)Cga>Tga p.R689* NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 689 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAACAAATTACGAAGGGACAT 0.502000 6 56 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 39947886 39947886 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr12:39947886C>T ENST00000308666.3 - 10 2186 c.2051G>A c.(2050-2052)cGc>cAc p.R684H NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 684 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding p.R684H(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TTGTTCAAAGCGCCAACCTCC 0.348000 3 38 0 0 1 0 0 NAT8L 339983 broad.mit.edu 37 4 2065803 2065803 + Silent SNP C C G TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr4:2065803C>G ENST00000423729.2 + 3 858 c.858C>G c.(856-858)ctC>ctG p.L286L NAT8L_ENST00000331662.3_Silent_p.L118L NM_178557.3 NP_848652.2 Q8N9F0 NAT8L_HUMAN N-acetyltransferase 8-like (GCN5-related, putative) 286 integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane aspartate N-acetyltransferase activity haematopoietic_and_lymphoid_tissue(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0315) CTGAGCGCCTCTTCTTCCAGG 0.711000 13 20 0 0 1 0 0 RBFOX1 54715 broad.mit.edu 37 16 7383041 7383041 + Silent SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:7383041C>T ENST00000355637.4 + 1 291 c.39C>T c.(37-39)ggC>ggT p.G13G RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Silent_p.G13G|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000340209.4_5'UTR|RBFOX1_ENST00000436368.2_Silent_p.G13G|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron NM_145893.2 NP_665900.1 Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 242 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 ATCCTTATGGCGTGCCTATGA 0.488000 9 161 0 0 1 0 0 VAMP5 10791 broad.mit.edu 37 2 85818866 85818866 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:85818866C>T ENST00000306384.4 + 2 105 c.22C>T c.(22-24)Cgg>Tgg p.R8W NM_006634.2 NP_006625.1 O95183 VAMP5_HUMAN vesicle-associated membrane protein 5 8 v-SNARE coiled-coil homology. cell differentiation|vesicle-mediated transport endomembrane system p.R8W(1) NS(1)|large_intestine(3)|lung(1) 5 AGAGTTGGAGCGGTGCCAGCA 0.602000 10 85 0 0 1 0 0 TUBB1 81027 broad.mit.edu 37 20 57597953 57597953 + Silent SNP C C T rs150453159 byFrequency TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr20:57597953C>T ENST00000217133.1 + 2 380 c.111C>T c.(109-111)cgC>cgT p.R37R NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 37 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GGAGCGACCGCGGGGCCTCGG 0.597000 26 36 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058129 114058129 + Missense_Mutation SNP T T C TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:114058129T>C ENST00000462705.1 - 12 2551 c.1730A>G c.(1729-1731)aAc>aGc p.N577S ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 650 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CATGTGCACGTTGAGGGAGCT 0.527000 101 122 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430910 37430910 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr10:37430910C>T ENST00000374660.1 + 7 1016 c.917C>T c.(916-918)aCg>aTg p.T306M ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T306M Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 362 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AGGGAAATTACGAGTCCTGCA 0.433000 65 86 0 0 1 0 0 WDR7 23335 broad.mit.edu 37 18 54446754 54446754 + Nonsense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr18:54446754C>T ENST00000254442.3 + 18 3251 c.3040C>T c.(3040-3042)Cga>Tga p.R1014* WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R981* NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1014 p.R1014R(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GATGCTGGCCCGAAGATGGCA 0.413000 6 42 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48690585 48690585 + Silent SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr3:48690585C>T ENST00000544264.1 - 10 5764 c.5484G>A c.(5482-5484)agG>agA p.R1828R CELSR3_ENST00000164024.4_Silent_p.R1828R Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1828 Laminin G-like 2. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGCCCGAGCCCCTGGTCACTG 0.617000 6 118 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204546 9204546 + Missense_Mutation SNP C C T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr19:9204546C>T ENST00000429566.3 + 1 692 c.626C>T c.(625-627)aCg>aTg p.T209M NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 GTGATAGCCACGCCCTTTGTC 0.567000 52 74 0 0 1 0 0 ZNF280C 55609 broad.mit.edu 37 X 129354412 129354412 + Silent SNP A A G TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chrX:129354412A>G ENST00000370978.4 - 13 1591 c.1438T>C c.(1438-1440)Ttg>Ctg p.L480L NM_017666.4 NP_060136.1 Q8ND82 Z280C_HUMAN zinc finger protein 280C 480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 TTGCTGGTCAAAAATTGTAGT 0.393000 9 156 0 0 1 0 0 AQP3 360 broad.mit.edu 37 9 33442299 33442299 + Splice_Site SNP G G A TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr9:33442299G>A ENST00000297991.4 - 5 790 c.710_splice c.e5+1 p.T237_splice AQP3_ENST00000493581.1_5'UTR NM_004925.4 NP_004916.1 Q92482 AQP3_HUMAN aquaporin 3 (Gill blood group) 237 excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D basolateral plasma membrane|cell-cell junction|cytoplasm glycerol channel activity|water channel activity endometrium(2)|large_intestine(3)|lung(2)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.0899) CTGTACTCACGTGAAGACTGC 0.657000 3 28 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36645154 36645154 + Frame_Shift_Del DEL C C - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:36645154delC ENST00000316156.4 + 13 2565 c.2112delC c.(2110-2112)agfs p.S704fs MAP7D1_ENST00000373148.4_Frame_Shift_Del_p.S278fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S709fs|MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S742fs Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 742 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) ACGGTTCCAGCCCAGGTAAAG 0.617 2 4 --- --- --- --- CTBS 1486 broad.mit.edu 37 1 85039999 85040007 + In_Frame_Del DEL GCAGCGCCA GCAGCGCCA - rs3217269 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr1:85039999_85040007delGCAGCGCCA ENST00000370630.4 - 1 140_148 c.92_100delTGGCGCTGC c.(91-102)cgg>c p.LALR31del CTBS_ENST00000477677.1_5'UTR NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase, di-N-acetyl- 31 lysosome cation binding breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 9 all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166) GCCGCGAGCCgcagcgccagcagcgccag 0.718 5 4 --- --- --- --- PIKFYVE 200576 broad.mit.edu 37 2 209200822 209200823 + In_Frame_Ins INS - - GTCTTC TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr2:209200822_209200823insGTCTTC ENST00000264380.4 + 27 4576_4577 c.4418_4419insGTCTTC c.(4417-4419)atc>aGTCTTCtc p.1473_1473I>SLL PIKFYVE_ENST00000474721.1_3'UTR NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1473 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GCAAGGCTCATGTCTTCCTCTG 0.441 21 86 --- --- --- --- SLC10A4 201780 broad.mit.edu 37 4 48485844 48485844 + Frame_Shift_Del DEL G G - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr4:48485844delG ENST00000273861.4 + 1 485 c.266delG c.(265-267)tgfs p.W89fs NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 89 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCTCGGCCCTGGGCGCCCCAC 0.756 2 4 --- --- --- --- XXbac-BPG55C20.7 0 broad.mit.edu 37 6 58294383 58294383 + RNA DEL T T - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr6:58294383delT ENST00000420759.1 + 0 114 GTCATCCCAGTTTCCCAGAGA 0.493 2 4 --- --- --- --- SNX31 169166 broad.mit.edu 37 8 101589305 101589308 + Splice_Site DEL TAGA TAGA - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr8:101589305_101589308delTAGA ENST00000311812.2 - 13 1321 c.e13-2 SNX31_ENST00000428383.2_Splice_Site NM_152628.3 NP_689841.3 Q8N9S9 SNX31_HUMAN sorting nexin 31 cell communication|protein transport phosphatidylinositol binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1) 26 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TTCAATCTGCTAGATAGATTAGTG 0.363 43 94 --- --- --- --- PAN3 255967 broad.mit.edu 37 13 28713125 28713125 + Frame_Shift_Del DEL C C - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr13:28713125delC ENST00000380958.3 + 1 483 c.331delC c.(331-333)ccfs p.P112fs NM_175854.7 NP_787050.6 Q58A45 PAN3_HUMAN PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 112 Interaction with polyadenylate-binding protein. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening centrosome|cytosol ATP binding|protein kinase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262) Colorectal(13;0.000334) all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174) AGCTGGGCCGCCCCCCGGGCC 0.771 2 4 --- --- --- --- RNASEH2B 79621 broad.mit.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - rs75254367 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr13:51530587delA ENST00000336617.3 + 11 1315 c.916delA c.(916-918)aafs p.K308fs RNASEH2B_ENST00000422660.1_Intron|RNASEH2B_ENST00000495244.2_3'UTR NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 308 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) GGTAAAAAATAAAAAAAAAAT 0.299 3 6 --- --- --- --- DNM1P47 0 broad.mit.edu 37 15 102293062 102293064 + RNA DEL CTC CTC - rs4965539 TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr15:102293062_102293064delCTC ENST00000561463.1 + 0 1108_1110 AGTTCATCTTCTCAGAGCTGCTG 0.576 3 4 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 2 4 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 8 167 --- --- --- --- CES2 8824 broad.mit.edu 37 16 66977769 66977770 + Frame_Shift_Ins INS - - T TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr16:66977769_66977770insT ENST00000317091.4 + 12 2697_2698 c.1713_1714insT c.(1711-1716)caggccfs p.QA571fs RP11-361L15.4_ENST00000566869.1_RNA|CES2_ENST00000417689.1_Frame_Shift_Ins_p.QA555fs NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 507 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GTCTGCCACACTGGCCGCTGTT 0.634 7 112 --- --- --- --- NDUFA3 4696 broad.mit.edu 37 19 54610132 54610135 + Frame_Shift_Del DEL GATG GATG - TCGA-DB-A4XH-01A-11D-A27K-08 TCGA-DB-A4XH-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 62718b87-e510-4dec-a3e5-9ea32d9fe53c 1ba5bcf8-0368-447b-918e-058cfb461883 g.chr19:54610132_54610135delGATG ENST00000485876.1 + 4 220_223 c.178_181delGATG c.(178-183)ggfs p.DG60fs NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000391763.3_3'UTR|NDUFA3_ENST00000303553.5_Frame_Shift_Del_p.DG17fs|NDUFA3_ENST00000391764.3_Intron O95167 NDUA3_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa 60 mitochondrial electron transport, NADH to ubiquinone|transport integral to membrane|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1) 2 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) NADH(DB00157) CGTCCGTGATGATGGGAACATGCC 0.642 11 6 --- --- --- ---