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 TMEM201 199953 broad.mit.edu 37 1 9661266 9661266 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:9661266G>T ENST00000340305.5 + 5 719 c.710G>T c.(709-711)aGc>aTc p.S237I TMEM201_ENST00000340381.6_Missense_Mutation_p.S237I|TMEM201_ENST00000377376.4_Missense_Mutation_p.S237I NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 237 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) TATGGGGCCAGCGGACACTTC 0.687000 18 86 1.56452e-12 1.84243e-12 1 1 0 GRIN2A 2903 broad.mit.edu 37 16 10032121 10032121 + Silent SNP G G A rs150208429 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr16:10032121G>A ENST00000396573.2 - 4 1011 c.702C>T c.(700-702)gaC>gaT p.D234D GRIN2A_ENST00000535259.1_Silent_p.D77D|GRIN2A_ENST00000562109.1_Silent_p.D234D|GRIN2A_ENST00000404927.2_Silent_p.D234D|GRIN2A_ENST00000330684.3_Silent_p.D234D|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000396575.2_Silent_p.D234D NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 234 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAACAGCCTCGTCTTTGGAAC 0.507000 13 71 0 0 1 0 0 ZBTB16 7704 broad.mit.edu 37 11 114113009 114113009 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:114113009G>A ENST00000335953.4 + 5 1954 c.1574G>A c.(1573-1575)cGc>cAc p.R525H ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R525H NM_006006.4 NP_005997.2 Q05516 ZBT16_HUMAN zinc finger and BTB domain containing 16 525 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2) 6 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GAGTGCAACCGCACCTTCCCC 0.632000 4 76 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43986996 43986996 + Nonsense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr13:43986996G>A ENST00000261488.6 - 4 632 c.55C>T c.(55-57)Cag>Tag p.Q19* ENOX1_ENST00000412891.1_Nonsense_Mutation_p.Q19* NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 19 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GCCATCATCTGAGGAAGCTCC 0.483000 14 78 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63010657 63010657 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:63010657G>A ENST00000439174.2 - 4 1097 c.852C>T c.(850-852)gtC>gtT p.V284V GNA13_ENST00000541118.1_Silent_p.V189V NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 284 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GAATTATGGAGACATTGCTGA 0.408000 26 86 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25953436 25953436 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:25953436C>G ENST00000356865.6 - 11 2467 c.2356G>C c.(2356-2358)Ggg>Cgg p.G786R NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 786 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGATGCCTCCCTCTGGCGTCA 0.512000 16 67 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5438039 5438039 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr18:5438039G>A ENST00000341928.2 - 6 940 c.600C>T c.(598-600)atC>atT p.I200I EPB41L3_ENST00000342933.3_Silent_p.I200I|EPB41L3_ENST00000400111.3_Silent_p.I200I|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000544123.1_Silent_p.I200I|EPB41L3_ENST00000540638.2_Silent_p.I200I NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 200 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AATACCTGGTGATATCTTCAG 0.408000 9 36 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19379653 19379653 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:19379653G>A ENST00000338883.4 - 27 3737 c.3738C>T c.(3736-3738)gaC>gaT p.D1246D PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Silent_p.D1078D|MAP3K15_ENST00000359173.3_Silent_p.D681D|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000540249.1_3'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1246 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCCGCAACCAGTCTATAAGCT 0.403000 25 137 0 0 1 0 0 DRD5 1816 broad.mit.edu 37 4 9783962 9783962 + Silent SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:9783962G>T ENST00000304374.2 + 1 705 c.309G>T c.(307-309)gtG>gtT p.V103V NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 103 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane p.V103V(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) TCGCCGAGGTGGCCGGTTACT 0.612000 4 84 2.0095e-06 2.15389e-06 1 1 0 DNAH8 1769 broad.mit.edu 37 6 38793961 38793961 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:38793961G>A ENST00000359357.3 + 27 3480 c.3226G>A c.(3226-3228)Gcc>Acc p.A1076T DNAH8_ENST00000449981.2_Missense_Mutation_p.A1293T|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1076T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ATCCATCGAGGCCAAGGCATG 0.328000 10 29 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 398246 398246 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:398246G>A ENST00000356286.5 + 3 949 c.244G>A c.(244-246)Gcg>Acg p.A82T RBCK1_ENST00000353660.3_Missense_Mutation_p.A40T|RBCK1_ENST00000382181.2_5'UTR NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 82 Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) TATGACAGTGGCGTCTCTCAA 0.607000 8 74 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593016 96593016 + Missense_Mutation SNP C C A rs79307257 by1000genomes TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:96593016C>A ENST00000456556.1 - 28 1969 c.1885G>T c.(1885-1887)Gat>Tat p.D629Y ankyrin repeat domain 36C p.D629Y(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GAAACAGAATCTTTCTCATCA 0.318000 3 43 0.115264 0.115912 1 1 0 SVIL 6840 broad.mit.edu 37 10 29812476 29812476 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:29812476T>C ENST00000375398.2 - 17 3516 c.3067A>G c.(3067-3069)Atg>Gtg p.M1023V SVIL_ENST00000375400.3_Missense_Mutation_p.M597V|SVIL_ENST00000355867.4_Missense_Mutation_p.M1023V O95425 SVIL_HUMAN supervillin 1023 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) TGTGCATTCATTTTAGCCATG 0.478000 15 70 0 0 1 0 0 OR10S1 219873 broad.mit.edu 37 11 123847819 123847819 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:123847819C>G ENST00000531945.1 - 1 669 c.580G>C c.(580-582)Gac>Cac p.D194H NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D194N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGGGGTATGTCGCAGAAGAAG 0.567000 21 65 0 0 1 0 0 PLEKHA4 57664 broad.mit.edu 37 19 49341311 49341311 + Missense_Mutation SNP C C T rs142246074 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:49341311C>T ENST00000355496.5 - 16 2121 c.1744G>A c.(1744-1746)Ggc>Agc p.G582S PLEKHA4_ENST00000263265.6_Silent_p.L680L NM_001161354.1 NP_001154826.1 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 0 cytoplasm|membrane 1-phosphatidylinositol binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) CCTCAGTAGCCAGGGCTTGGG 0.557000 18 103 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192014 152192014 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:152192014C>G ENST00000368801.2 - 3 2166 c.2091G>C c.(2089-2091)caG>caC p.Q697H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 697 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCGGAAGACTGGCCTGAGA 0.567000 62 242 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82595769 82595769 + Missense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:82595769T>A ENST00000423517.2 - 4 3672 c.3335A>T c.(3334-3336)cAg>cTg p.Q1112L PCLO_ENST00000333891.8_Missense_Mutation_p.Q1112L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1051 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TATTGCTCTCTGGGTTTGGCA 0.388000 20 61 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113773012 113773012 + Missense_Mutation SNP G G A rs121964926 byFrequency TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr13:113773012G>A ENST00000375581.3 + 9 1126 c.1091G>A c.(1090-1092)cGg>cAg p.R364Q F7_ENST00000346342.3_Missense_Mutation_p.R342Q|F7_ENST00000541084.1_Missense_Mutation_p.R295Q NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 364 Peptidase S1. R -> Q (in FA7D; Harrow/Padua).|R -> W (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) AACGTGCCCCGGCTGATGACC 0.637000 6 37 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143713795 143713795 + Silent SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:143713795A>G ENST00000264170.4 + 6 717 c.459A>G c.(457-459)ccA>ccG p.P153P KYNU_ENST00000409512.1_Silent_p.P153P|KYNU_ENST00000375773.2_Silent_p.P153P NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 153 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGCCTACGCCAAAACGATATA 0.308000 4 24 0 0 1 0 0 ARPC3 10094 broad.mit.edu 37 12 110874930 110874930 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:110874930T>C ENST00000228825.7 - 4 357 c.211A>G c.(211-213)Ata>Gta p.I71V RP11-478C19.2_ENST00000550231.1_RNA NM_001278556.1|NM_005719.2 NP_001265485.1|NP_005710.1 O15145 ARPC3_HUMAN actin related protein 2/3 complex, subunit 3, 21kDa 71 cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton lung(1)|ovary(1) 2 TAGAGAGTTATATATATCAAG 0.333000 4 42 0 0 1 0 0 HIST1H2AM 8336 broad.mit.edu 37 6 27860923 27860923 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:27860923G>C ENST00000359611.2 - 1 40 c.5C>G c.(4-6)tCt>tGt p.S2C NM_003514.2 NP_003505.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 2 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2) 14 GCCACGTCCAGACATGGTAAA 0.572000 5 67 0 0 1 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267972 103267972 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:103267972C>T ENST00000217926.5 - 1 287 c.261G>A c.(259-261)cgG>cgA p.R87R NM_001002916.3 NP_001002916.2 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 87 R -> W (in dbSNP:rs17332043). nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 GCTTCAGCACCCGGCGGAAAT 0.632000 17 94 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49159484 49159484 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:49159484T>C ENST00000418109.1 - 30 4980 c.4816A>G c.(4816-4818)Aca>Gca p.T1606A LAMB2_ENST00000305544.4_Missense_Mutation_p.T1606A NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1606 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCTGTACTGTCTCTGCCTTC 0.617000 16 56 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10258301 10258301 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:10258301T>C ENST00000418404.3 - 9 975 c.812A>G c.(811-813)gAa>gGa p.E271G MYH13_ENST00000252172.4_Missense_Mutation_p.E271G|MYH13_ENST00000570743.1_Missense_Mutation_p.E271G Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 271 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TCTGGATTTTTCTAACAGATC 0.373000 5 25 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38922789 38922789 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:38922789C>T ENST00000335552.4 - 8 1433 c.1385G>A c.(1384-1386)cGa>cAa p.R462Q NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 462 Tail. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) AGAAGGTACTCGTTGCTCTAC 0.383000 13 56 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 10 122 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74350566 74350566 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:74350566A>T ENST00000263665.6 - 15 2105 c.2078T>A c.(2077-2079)gTa>gAa p.V693E NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 693 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTCAGTTCTTACTTTTTCTGA 0.423000 16 57 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112087036 112087036 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:112087036G>A ENST00000357685.5 + 11 1744 c.1609G>A c.(1609-1611)Gtg>Atg p.V537M BCO2_ENST00000361053.4_Missense_Mutation_p.V464M|BCO2_ENST00000393032.2_Missense_Mutation_p.V503M|BCO2_ENST00000526088.1_Missense_Mutation_p.V497M|BCO2_ENST00000532593.1_Missense_Mutation_p.V432M|BCO2_ENST00000438022.1_Missense_Mutation_p.V503M|BCO2_ENST00000531169.1_Missense_Mutation_p.V503M Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 537 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 TCTTTCTGTGGTGATCACTCC 0.433000 16 27 0 0 1 0 0 FBXO41 150726 broad.mit.edu 37 2 73492756 73492756 + Silent SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:73492756A>G ENST00000521871.1 - 5 1633 c.1218T>C c.(1216-1218)cgT>cgC p.R406R FBXO41_ENST00000520530.2_Silent_p.R406R|FBXO41_ENST00000295133.5_Silent_p.R467R Q8TF61 FBX41_HUMAN F-box protein 41 406 intracellular protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1) 13 CGGCTGGCACACGGCTGGAGG 0.662000 4 12 0 0 1 0 0 C17orf74 201243 broad.mit.edu 37 17 7330595 7330595 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:7330595C>T ENST00000333870.3 + 3 1359 c.1285C>T c.(1285-1287)Ccc>Tcc p.P429S RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 429 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) TTCCTCCCAGCCCTGGCCCAA 0.642000 13 41 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 929709 929709 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:929709G>A ENST00000263620.3 + 2 508 c.181G>A c.(181-183)Gca>Aca p.A61T NM_005224.2 NP_005215.1 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT-like) 61 cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCAGATGGCCGCACTGGCAGC 0.771000 4 10 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54435232 54435232 + Nonsense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:54435232G>T ENST00000537900.1 + 2 3001 c.3001G>T c.(3001-3003)Gaa>Taa p.E1001* UNC13C_ENST00000545554.1_Intron|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.E1001* Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1001 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TTCTGTGGATGAAAAGGTTTT 0.323000 11 58 0.000978159 0.00101797 1 1 0 PTPRH 5794 broad.mit.edu 37 19 55708511 55708511 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:55708511G>T ENST00000376350.3 - 9 1986 c.1964C>A c.(1963-1965)tCc>tAc p.S655Y PTPRH_ENST00000263434.5_Missense_Mutation_p.S477Y|PTPRH_ENST00000588559.1_5'UTR NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 655 Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) GCTCTGCGTGGAACTGGCTAC 0.552000 17 38 3.99206e-14 4.76385e-14 1 1 0 SSTR1 6751 broad.mit.edu 37 14 38679517 38679517 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:38679517C>G ENST00000267377.2 + 3 1540 c.923C>G c.(922-924)tCg>tGg p.S308W NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 308 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) AGTCAGCTGTCGGTCATCCTC 0.552000 24 87 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131531174 131531174 + Splice_Site SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:131531174C>A ENST00000401867.1 - 14 1940 c.e14-1 P4HA2_ENST00000379100.2_Splice_Site|P4HA2_ENST00000379104.2_Splice_Site|P4HA2_ENST00000360568.3_Splice_Site|P4HA2_ENST00000166534.4_Splice_Site|P4HA2_ENST00000379086.1_Splice_Site O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) CATCACTCATCTGGAAATATA 0.488000 5 32 4.096e-09 4.61122e-09 1 1 0 XKR7 343702 broad.mit.edu 37 20 30585199 30585199 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:30585199G>A ENST00000217299.3 + 3 1853 c.1679G>A c.(1678-1680)cGg>cAg p.R560Q NM_001011718.1 NP_001011718.1 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related family, member 7 560 integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCCACGCCCCGGTTGCAGTAC 0.592000 23 89 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176983983 176983983 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:176983983C>G ENST00000367654.2 - 8 1504 c.1491G>C c.(1489-1491)atG>atC p.M497I ASTN1_ENST00000367657.3_Missense_Mutation_p.M489I|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.M489I|ASTN1_ENST00000361833.2_Missense_Mutation_p.M489I O14525 ASTN1_HUMAN astrotactin 1 497 EGF-like 1. cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGGATCCTTCATGTAGCCTT 0.448000 75 279 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47102104 47102104 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:47102104G>A ENST00000377107.2 + 12 1922 c.1568G>A c.(1567-1569)cGt>cAt p.R523H USP11_ENST00000218348.3_Missense_Mutation_p.R566H P51784 UBP11_HUMAN ubiquitin specific peptidase 11 566 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 ATCTTGGACCGTGATGATATC 0.507000 19 56 0 0 1 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60051996 60051996 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr18:60051996G>C ENST00000586569.1 + 10 1618 c.1580G>C c.(1579-1581)gGa>gCa p.G527A TNFRSF11A_ENST00000269485.7_Missense_Mutation_p.G210A NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 527 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) AATGTGACTGGAAACAGTAAC 0.627000 4 14 0 0 1 0 0 PGPEP1 54858 broad.mit.edu 37 19 18468195 18468195 + Silent SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:18468195G>C ENST00000269919.5 + 4 302 c.207G>C c.(205-207)ctG>ctC p.L69L PGPEP1_ENST00000604499.1_Silent_p.L69L|PGPEP1_ENST00000252813.5_5'UTR|PGPEP1_ENST00000595066.1_Silent_p.L69L|PGPEP1_ENST00000595552.1_Intron NM_017712.2 NP_060182.1 Q9NXJ5 PGPI_HUMAN pyroglutamyl-peptidase I 69 cysteine-type peptidase activity GTGTGCAGCTGGTGGTGCATG 0.592000 7 24 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123067338 123067338 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:123067338C>T ENST00000333479.7 + 34 3246 c.3069C>T c.(3067-3069)caC>caT p.H1023H KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1023 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TTAAAGCTCACGAAGTTGCAC 0.493000 5 25 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189582020 189582020 + Splice_Site SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:189582020G>T ENST00000264731.3 + 5 668 c.e5-1 TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site|TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000354600.5_Splice_Site NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACTCTAAGCAGTATTCCACTG 0.458000 HNSCC(45;0.13) 89 169 9.27813e-46 1.13752e-45 1 1 0 OR52I2 143502 broad.mit.edu 37 11 4608934 4608934 + Missense_Mutation SNP G G A rs149646629 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:4608934G>A ENST00000312614.4 + 1 914 c.892G>A c.(892-894)Gta>Ata p.V298I NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGGCAGGATGTAGTGCCCTT 0.522000 41 112 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52668694 52668694 + Missense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:52668694T>A ENST00000399231.3 - 19 2513 c.2270A>T c.(2269-2271)tAt>tTt p.Y757F MYO5A_ENST00000553916.1_Missense_Mutation_p.Y757F|MYO5A_ENST00000356338.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000358212.6_Missense_Mutation_p.Y757F|MYO5A_ENST00000399233.2_Missense_Mutation_p.Y757F NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 757 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TTTTTCTAGATAGGCCACTTG 0.438000 14 50 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111893958 111893958 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:111893958G>A ENST00000377617.3 - 23 3780 c.3619C>T c.(3619-3621)Cct>Tct p.P1207S ATXN2_ENST00000542287.2_Missense_Mutation_p.P942S|ATXN2_ENST00000389153.4_Missense_Mutation_p.P944S|ATXN2_ENST00000535949.1_Missense_Mutation_p.P900S|ATXN2_ENST00000550104.1_3'UTR NM_002973.3 NP_002964.3 Q99700 ATX2_HUMAN ataxin 2 1207 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 TTGGAGGCAGGTGTCATGGAG 0.592000 50 226 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10981948 10981948 + Silent SNP A A C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:10981948A>C ENST00000304623.8 - 21 3543 c.3354T>G c.(3352-3354)acT>acG p.T1118T CTNND2_ENST00000359640.2_Silent_p.T1060T|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Silent_p.T781T|CTNND2_ENST00000458100.2_Silent_p.T685T|CTNND2_ENST00000511377.1_Silent_p.T1027T NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 1118 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTGAAATTCCAGTGTTTTGAG 0.348000 17 68 0 0 1 0 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651162 1651162 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:1651162G>T ENST00000399676.2 + 1 130 c.92G>T c.(91-93)tGt>tTt p.C31F NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 31 C -> R (in Ref. 1; BAD20201 and 2; CAF31639). keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) tgtggaggctgtggctctggc 0.716000 4 129 0.150653 0.150653 1 1 0 FAT1 2195 broad.mit.edu 37 4 187530348 187530348 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:187530348C>A ENST00000441802.2 - 16 10404 c.10195G>T c.(10195-10197)Gac>Tac p.D3399Y NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3399 Cadherin 31. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 GTTTCTCGGTCGAGAAGTTTG 0.448000 HNSCC(5;0.00058) 9 20 9.70103e-10 1.10604e-09 1 1 0 UBE2R2 54926 broad.mit.edu 37 9 33900204 33900204 + Silent SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr9:33900204G>T ENST00000263228.3 + 3 488 c.297G>T c.(295-297)ccG>ccT p.P99P NM_017811.3 NP_060281.2 Q712K3 UB2R2_HUMAN ubiquitin-conjugating enzyme E2R 2 99 protein K48-linked ubiquitination|protein monoubiquitination ATP binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 LUSC - Lung squamous cell carcinoma(29;0.0176) GBM - Glioblastoma multiforme(74;0.188) TTCTTCATCCGCCTGTAGATG 0.398000 7 56 0.000274275 0.000287107 1 1 0 CYFIP1 23191 broad.mit.edu 37 15 22933783 22933783 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:22933783C>T ENST00000313077.7 + 8 827 c.702C>T c.(700-702)taC>taT p.Y234Y CYFIP1_ENST00000560848.1_Silent_p.Y234Y NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 234 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TTTCTGGCTACGAAGAGCTCC 0.527000 40 129 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17429971 17429971 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:17429971G>T ENST00000302539.4 - 23 2916 c.2791C>A c.(2791-2793)Ctc>Atc p.L931I ABCC8_ENST00000389817.3_Missense_Mutation_p.L930I NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 930 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CGGTTCATGAGGGTCTTCCAG 0.537000 25 54 3.01185e-09 3.41216e-09 1 1 0 IRF2BP1 26145 broad.mit.edu 37 19 46388616 46388616 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:46388616C>T ENST00000302165.3 - 1 760 c.417G>A c.(415-417)ggG>ggA p.G139G NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 139 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CACGGCCCAGCCCATTGGCCA 0.701000 7 26 0 0 1 0 0 GABRR1 2569 broad.mit.edu 37 6 89891711 89891711 + Missense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:89891711T>A ENST00000435811.1 - 7 1265 c.811A>T c.(811-813)Act>Tct p.T271S GABRR1_ENST00000369451.3_Missense_Mutation_p.T201S|GABRR1_ENST00000454853.2_Missense_Mutation_p.T288S NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 288 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) GGGAAATAAGTTTGGAGCAAG 0.512000 30 97 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50330867 50330867 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:50330867G>A ENST00000336307.1 - 4 1336 c.1064C>T c.(1063-1065)gCc>gTc p.A355V HYAL3_ENST00000415204.1_Missense_Mutation_p.A106V|HYAL3_ENST00000450982.1_Missense_Mutation_p.A325V|HYAL3_ENST00000513170.1_Missense_Mutation_p.A76V|HYAL3_ENST00000359051.3_Missense_Mutation_p.A325V NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 355 EGF-like. carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GTGACTGCAGGCCATCGCTGC 0.607000 13 42 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131268816 131268816 + Missense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:131268816T>A ENST00000512055.1 - 18 3403 c.1277A>T c.(1276-1278)gAg>gTg p.E426V CPNE4_ENST00000511604.1_Missense_Mutation_p.E426V|CPNE4_ENST00000429747.1_Missense_Mutation_p.E426V|CPNE4_ENST00000512332.1_Missense_Mutation_p.E444V|CPNE4_ENST00000502818.1_Missense_Mutation_p.E444V Q96A23 CPNE4_HUMAN copine IV 426 VWFA. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GTTAGTTTCCTCTGACGCTGA 0.532000 15 67 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091116 106091116 + RNA SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:106091116C>A ENST00000390543.2 - 0 680 GGGTGTACACCTGTGGCTCTC 0.647000 33 416 1.62565e-12 1.9019e-12 1 1 0 CDH16 1014 broad.mit.edu 37 16 66945907 66945907 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr16:66945907G>A ENST00000299752.4 - 13 1878 c.1685C>T c.(1684-1686)cCc>cTc p.P562L CDH16_ENST00000568632.1_Missense_Mutation_p.P465L|CDH16_ENST00000570262.1_Missense_Mutation_p.P482L|CDH16_ENST00000394055.3_Missense_Mutation_p.P562L|CDH16_ENST00000565796.1_Missense_Mutation_p.P562L NM_001204744.1|NM_001204745.1|NM_004062.3 NP_001191673.1|NP_001191674.1|NP_004053.1 O75309 CAD16_HUMAN cadherin 16, KSP-cadherin 562 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GTCCAACTTGGGGGGTGGCAT 0.662000 43 100 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12359287 12359287 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:12359287G>T ENST00000358136.3 + 25 6192 c.6062G>T c.(6061-6063)cGg>cTg p.R2021L VPS13D_ENST00000356315.4_Missense_Mutation_p.R2021L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 2021 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CGCTGTTCACGGGTTCTCCTG 0.438000 25 69 6.36457e-07 6.9467e-07 1 1 0 NLRP3 114548 broad.mit.edu 37 1 247582236 247582236 + Missense_Mutation SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:247582236A>G ENST00000366497.2 + 2 920 c.140A>G c.(139-141)gAg>gGg p.E47G NLRP3_ENST00000336119.3_Missense_Mutation_p.E47G|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.E47G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E47G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E47G NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 47 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GGTCAGACAGAGAAGGCAGAC 0.557000 6 37 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140264024 140264024 + Silent SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:140264024A>T ENST00000296543.5 + 5 770 c.447A>T c.(445-447)gcA>gcT p.A149A NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Silent_p.A149A NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 149 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 CGCAGAGAGCATCATGGATTG 0.343000 12 52 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 181 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29663706 29663706 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:29663706T>C ENST00000358273.4 + 42 6584 c.6201T>C c.(6199-6201)ccT>ccC p.P2067P NF1_ENST00000356175.3_Silent_p.P2046P NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2067 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CTCCAACTCCTACTTTAGAAC 0.363000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 7 30 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8100553 8100553 + Missense_Mutation SNP C C A rs145577748 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:8100553C>A ENST00000379328.3 + 3 1095 c.527C>A c.(526-528)gCc>gAc p.A176D GATA3_ENST00000346208.3_Missense_Mutation_p.A176D|GATA3_ENST00000461472.1_3'UTR NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 176 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 GCCGGCTCGGCCCGGCAGGAC 0.706000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 82 99 4.02937e-33 4.90651e-33 1 1 0 NUDT9 53343 broad.mit.edu 37 4 88370348 88370348 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:88370348T>C ENST00000473942.1 + 5 557 c.435T>C c.(433-435)caT>caC p.H145H NUDT9_ENST00000515371.1_3'UTR|NUDT9_ENST00000302174.4_Silent_p.H195H NM_198038.2 NP_932155.1 Q9BW91 NUDT9_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 9 195 mitochondrion ADP-ribose diphosphatase activity endometrium(1)|large_intestine(4)|lung(6) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000937) CTGGGAAGCATATCTTACAAT 0.328000 11 37 0 0 1 0 0 HIST1H2AK 8330 broad.mit.edu 37 6 27805970 27805970 + Missense_Mutation SNP C C T rs142211266 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:27805970C>T ENST00000330180.2 - 1 147 c.148G>A c.(148-150)Gtg>Atg p.V50M NM_003510.2 NP_003501.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 50 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2) 10 GCCAGGTACACCGGCGCTCCG 0.662000 19 116 0 0 1 0 0 ZBBX 79740 broad.mit.edu 37 3 167000073 167000073 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:167000073G>A ENST00000392766.2 - 19 2430 c.2090C>T c.(2089-2091)aCt>aTt p.T697I ZBBX_ENST00000307529.5_Missense_Mutation_p.T736I|ZBBX_ENST00000455345.2_Missense_Mutation_p.T736I|ZBBX_ENST00000392767.2_Missense_Mutation_p.T697I|ZBBX_ENST00000392764.1_Missense_Mutation_p.T668I NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 697 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 ATTGTCTAAAGTATGTTGATC 0.328000 23 50 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88466305 88466305 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:88466305C>T ENST00000361373.4 + 7 935 c.914C>T c.(913-915)gCg>gTg p.A305V LDB3_ENST00000429277.2_Intron|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Intron NM_007078.2 NP_009009.1 O75112 LDB3_HUMAN LIM domain binding 3 305 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 ATTGAGCATGCGCCGGTGTGC 0.667000 72 259 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17983200 17983200 + Missense_Mutation SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:17983200A>G ENST00000361221.3 + 25 3016 c.2857A>G c.(2857-2859)Agc>Ggc p.S953G ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S914G|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S726G|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S656G|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S948G NM_018125.3 NP_060595.3 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 953 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CCCTCGGACCAGCGGTGAGGA 0.647000 3 50 0 0 1 0 0 OSBPL9 114883 broad.mit.edu 37 1 52117695 52117695 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:52117695A>T ENST00000371710.3 + 2 380 c.198A>T c.(196-198)agA>agT p.R66S OSBPL9_ENST00000371714.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000453295.1_Intron|OSBPL9_ENST00000337809.4_Missense_Mutation_p.R66S|OSBPL9_ENST00000447887.1_Missense_Mutation_p.R48S|OSBPL9_ENST00000435686.2_De_novo_Start_InFrame|OSBPL9_ENST00000428468.1_Missense_Mutation_p.R48S NM_024586.5|NM_148906.2 NP_078862.4|NP_683704.2 Q96SU4 OSBL9_HUMAN oxysterol binding protein-like 9 48 PH. lipid transport lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1) 18 GCTCTCGCAGAGGATGTGTTA 0.294000 8 20 0 0 1 0 0 CEP112 201134 broad.mit.edu 37 17 63848087 63848087 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:63848087C>T ENST00000392769.2 - 21 2447 c.2229G>A c.(2227-2229)caG>caA p.Q743Q CEP112_ENST00000541355.1_Silent_p.Q378Q|CEP112_ENST00000535342.2_Silent_p.Q743Q|CEP112_ENST00000537949.1_Silent_p.Q701Q|CEP112_ENST00000580482.1_5'UTR NM_145036.3 NP_659473.2 Q8N8E3 CE112_HUMAN centrosomal protein 112kDa 743 centrosome NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 28 GCTGTTTCCGCTGTGAGTTCA 0.428000 17 55 0 0 1 0 0 BPIFB2 80341 broad.mit.edu 37 20 31609590 31609590 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:31609590G>T ENST00000170150.3 + 15 1515 c.1320G>T c.(1318-1320)gaG>gaT p.E440D NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 440 extracellular region lipid binding TCGCCCCTGAGATCTTTGTCT 0.587000 41 78 5.34276e-22 6.41848e-22 1 1 0 DHRS2 10202 broad.mit.edu 37 14 24113650 24113650 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:24113650G>A ENST00000250383.6 + 7 1049 c.573G>A c.(571-573)gcG>gcA p.A191A DHRS2_ENST00000344777.7_Silent_p.A191A NM_005794.3 NP_005785.1 Q13268 DHRS2_HUMAN dehydrogenase/reductase (SDR family) member 2 169 C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin mitochondrion|nuclear envelope binding|carbonyl reductase (NADPH) activity endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00659) GCAAGACAGCGCTGCTGGGTC 0.512000 22 104 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7689197 7689197 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:7689197G>A ENST00000358368.4 - 7 994 c.957C>T c.(955-957)cgC>cgT p.R319R XAB2_ENST00000534844.1_Silent_p.R316R NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 319 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 CCTCCTCCTCGCGCCCCAGCT 0.642000 Direct reversal of damage;Nucleotide excision repair (NER) 19 115 0 0 1 0 0 RP11-483E23.2 0 broad.mit.edu 37 15 28599954 28599954 + RNA SNP A A G rs144345425 by1000genomes TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:28599954A>G ENST00000568624.1 - 0 452 GGCTGTAGTAAAGTGCCATCT 0.478000 5 69 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38939413 38939413 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:38939413G>C ENST00000359357.3 + 81 12100 c.11846G>C c.(11845-11847)cGa>cCa p.R3949P DNAH8_ENST00000449981.2_Missense_Mutation_p.R4166P|DNAH8_ENST00000441566.1_Missense_Mutation_p.R3913P dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTACATGCTCGAAAGCTGATT 0.413000 14 54 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62729634 62729634 + Nonsense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:62729634G>T ENST00000349451.3 + 6 1007 c.595G>T c.(595-597)Gag>Tag p.E199* OPRL1_ENST00000355631.4_Nonsense_Mutation_p.E199*|OPRL1_ENST00000336866.2_Nonsense_Mutation_p.E199* NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 199 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) TGCAGAGATCGAGTGCCTGGT 0.637000 15 61 4.7546e-09 5.31921e-09 1 1 0 CD209 30835 broad.mit.edu 37 19 7810657 7810657 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:7810657C>A ENST00000315599.7 - 4 517 c.495G>T c.(493-495)aaG>aaT p.K165N CD209_ENST00000601951.1_Missense_Mutation_p.K141N|CD209_ENST00000601256.1_Missense_Mutation_p.K141N|CD209_ENST00000204801.8_Missense_Mutation_p.K121N|CD209_ENST00000394173.4_Intron|CD209_ENST00000602261.1_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K141N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.K141N|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K165N NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 165 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTCCTGCATCTTAGATTTCT 0.552000 6 230 0.00198382 0.00205262 1 1 0 DST 667 broad.mit.edu 37 6 56482206 56482206 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:56482206T>C ENST00000370765.6 - 24 6166 c.6059A>G c.(6058-6060)aAc>aGc p.N2020S DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1423 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATACTGCTTGTTCTTAGCTAT 0.348000 30 124 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36169027 36169027 + Missense_Mutation SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:36169027A>G ENST00000357641.6 + 2 1181 c.928A>G c.(928-930)Att>Gtt p.I310V BRPF3_ENST00000534400.1_Missense_Mutation_p.I310V|BRPF3_ENST00000543502.1_Missense_Mutation_p.I310V|BRPF3_ENST00000534694.1_Missense_Mutation_p.I310V|BRPF3_ENST00000339717.7_Missense_Mutation_p.I310V|BRPF3_ENST00000443324.2_Missense_Mutation_p.I310V NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 310 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTTGGAACCTATTGAGGGCAT 0.532000 12 85 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94506780 94506780 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:94506780T>C ENST00000370225.3 - 23 3593 c.3507A>G c.(3505-3507)caA>caG p.Q1169Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1169 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TGCCTTTCCTTTGGCTCTGGA 0.562000 6 44 0 0 1 0 0 CSH1 1442 broad.mit.edu 37 17 61972422 61972422 + Missense_Mutation SNP A A G rs17854931 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:61972422A>G ENST00000316193.8 - 5 755 c.614T>C c.(613-615)aTg>aCg p.M205T CSH1_ENST00000453363.3_Missense_Mutation_p.M110T|CSH1_ENST00000329882.8_3'UTR NM_001317.5 NP_001308.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 1 (placental lactogen) 205 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 8 GCACTGCACCATGCGCAGGAA 0.587000 Russell-Silver syndrome 23 104 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518352 8518352 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr9:8518352T>C ENST00000381196.4 - 18 1582 c.1039A>G c.(1039-1041)Aac>Gac p.N347D PTPRD_ENST00000358503.5_Missense_Mutation_p.N334D|PTPRD_ENST00000486161.1_Missense_Mutation_p.N347D|PTPRD_ENST00000356435.5_Missense_Mutation_p.N347D|PTPRD_ENST00000397617.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397606.3_Missense_Mutation_p.N337D|PTPRD_ENST00000397611.3_Missense_Mutation_p.N344D|PTPRD_ENST00000355233.5_Missense_Mutation_p.N347D|PTPRD_ENST00000537002.1_Missense_Mutation_p.N344D|PTPRD_ENST00000540109.1_Missense_Mutation_p.N347D|PTPRD_ENST00000360074.4_Missense_Mutation_p.N334D NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 347 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGCTCAGGGTTCCCAGAGTCC 0.468000 TSP Lung(15;0.13) 15 70 0 0 1 0 0 GABRA1 2554 broad.mit.edu 37 5 161302606 161302606 + Missense_Mutation SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:161302606T>G ENST00000428797.2 + 7 872 c.517T>G c.(517-519)Ttc>Gtc p.F173V GABRA1_ENST00000444819.1_Missense_Mutation_p.F173V|GABRA1_ENST00000437025.2_Missense_Mutation_p.F173V|GABRA1_ENST00000023897.6_Missense_Mutation_p.F173V|GABRA1_ENST00000393943.4_Missense_Mutation_p.F173V|GABRA1_ENST00000420560.1_Missense_Mutation_p.F173V NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 173 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) TTTGGAGGACTTCCCTATGGA 0.378000 23 72 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92523356 92523356 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:92523356C>T ENST00000298047.6 + 7 4600 c.4583C>T c.(4582-4584)gCc>gTc p.A1528V FAT3_ENST00000525166.1_Missense_Mutation_p.A1378V|FAT3_ENST00000409404.2_Missense_Mutation_p.A1528V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1528 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACCATGAGGCCCAGGACAAG 0.488000 TCGA Ovarian(4;0.039) 19 146 0 0 1 0 0 FGD6 55785 broad.mit.edu 37 12 95603235 95603235 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:95603235T>C ENST00000343958.4 - 2 2048 c.1825A>G c.(1825-1827)Atg>Gtg p.M609V FGD6_ENST00000549499.1_Missense_Mutation_p.M609V|FGD6_ENST00000546711.1_Missense_Mutation_p.M609V NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 609 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 TCCACATCCATAGCAGATAAC 0.418000 39 140 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42461828 42461828 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr22:42461828C>T ENST00000396398.3 - 6 1205 c.673G>A c.(673-675)Gtg>Atg p.V225M NAGA_ENST00000402937.1_Missense_Mutation_p.V225M|NAGA_ENST00000403363.1_Missense_Mutation_p.V225M NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 225 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 ATGGAGAGCACGCTCCACCAG 0.577000 7 40 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321748 52321748 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr8:52321748G>A ENST00000356297.4 - 17 2536 c.2436C>T c.(2434-2436)caC>caT p.H812H PXDNL_ENST00000543296.1_Silent_p.H812H NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 812 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTCCAAGTCGTGCTCTAGAA 0.677000 3 16 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89909017 89909017 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:89909017G>C ENST00000389297.4 + 12 1433 c.1182G>C c.(1180-1182)ttG>ttC p.L394F C7orf63_ENST00000497910.1_Missense_Mutation_p.L376F|C7orf63_ENST00000316089.8_Missense_Mutation_p.L394F NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 394 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AAGTTATTTTGGCTTTGTTTA 0.323000 OREG0003793 type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 37 0 0 1 0 0 SNORD115-44 100033818 broad.mit.edu 37 15 25496006 25496006 + RNA SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:25496006G>C ENST00000365391.1 + 0 1 NR_003359.1 GCCCTTGGTTGGGTCAATGAT 0.522000 68 277 0 0 1 0 0 BCCIP 56647 broad.mit.edu 37 10 127512150 127512150 + Silent SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:127512150T>A ENST00000299130.3 + 1 36 c.24T>A c.(22-24)cgT>cgA p.R8R BCCIP_ENST00000429863.2_Silent_p.R8R|BCCIP_ENST00000278100.6_Silent_p.R8R|BCCIP_ENST00000368759.5_Silent_p.R8R NM_078469.2 NP_510869.1 Q9P287 BCCIP_HUMAN BRCA2 and CDKN1A interacting protein 8 cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity nuclear cyclin-dependent protein kinase holoenzyme complex kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1) 8 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) CTAAGCGGCGTGCCGTGGAAA 0.607000 32 184 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154561914 154561914 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:154561914G>C ENST00000368474.4 - 9 2892 c.2693C>G c.(2692-2694)tCt>tGt p.S898C ADAR_ENST00000292205.5_Missense_Mutation_p.S941C|ADAR_ENST00000368471.3_Missense_Mutation_p.S603C NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 898 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TAGGCTGAGAGAATCTCCTTT 0.468000 10 33 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765857 18765857 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:18765857C>T ENST00000304081.4 - 4 746 c.646G>A c.(646-648)Gac>Aac p.D216N NT5C1B_ENST00000600945.1_Missense_Mutation_p.D276N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D276N|NT5C1B_ENST00000359846.2_Missense_Mutation_p.D276N NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) TCGTAGTCGTCCTCGTCCTCC 0.682000 4 14 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240975222 240975222 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:240975222A>T ENST00000366565.1 - 14 1459 c.1078T>A c.(1078-1080)Tta>Ata p.L360I RGS7_ENST00000331110.7_Missense_Mutation_p.L334I|RGS7_ENST00000366562.4_Missense_Mutation_p.L360I|RGS7_ENST00000366563.1_Missense_Mutation_p.L360I|RGS7_ENST00000401882.1_Missense_Mutation_p.L307I|RGS7_ENST00000366564.1_Missense_Mutation_p.L360I|RGS7_ENST00000446183.2_Missense_Mutation_p.L276I|RGS7_ENST00000348120.2_Missense_Mutation_p.L307I|RGS7_ENST00000407727.1_Missense_Mutation_p.L360I NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 360 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity p.L360V(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTACCTTAAATTTTCCGAG 0.388000 18 65 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134624471 134624471 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:134624471C>A ENST00000368586.5 - 56 7666 c.7566G>T c.(7564-7566)gaG>gaT p.E2522D TTC40_ENST00000263170.5_Missense_Mutation_p.E683D NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 683 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 GCTCCACGCTCTCCATGTGCC 0.662000 3 18 0.004672 0.00475164 1 1 0 SLC10A6 345274 broad.mit.edu 37 4 87744876 87744876 + Missense_Mutation SNP G G C rs146262257 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:87744876G>C ENST00000273905.6 - 6 1246 c.1099C>G c.(1099-1101)Ctc>Gtc p.L367V NM_197965.2 NP_932069.1 Q3KNW5 SOAT_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 6 367 integral to membrane|plasma membrane bile acid:sodium symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 9 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) ACTGGCTCGAGAGCCCTGTGG 0.542000 7 37 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58863848 58863848 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:58863848C>T ENST00000263100.3 - 4 475 c.414G>A c.(412-414)gtG>gtA p.V138V A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 138 Ig-like V-type 2. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) CACCTCGGCACACTGCTGTTG 0.627000 49 193 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175417 55175417 + Nonsense_Mutation SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:55175417T>G ENST00000391736.1 + 5 591 c.276T>G c.(274-276)taT>taG p.Y92* LILRB4_ENST00000391734.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000430952.2_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000391733.3_Nonsense_Mutation_p.Y92*|LILRB4_ENST00000270452.2_Nonsense_Mutation_p.Y92* NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 92 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CAGAGGACTATGCAGGGAGAT 0.572000 34 209 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44661768 44661768 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:44661768T>C ENST00000426739.2 + 6 1857 c.1599T>C c.(1597-1599)gtT>gtC p.V533V ZNF234_ENST00000592437.1_Silent_p.V533V NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) ATCAGAGAGTTCACAGTGGGG 0.463000 26 98 0 0 1 0 0 ZNF677 342926 broad.mit.edu 37 19 53740266 53740266 + Missense_Mutation SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:53740266T>G ENST00000333952.4 - 5 1879 c.1714A>C c.(1714-1716)Aaa>Caa p.K572Q ZNF677_ENST00000598513.1_Missense_Mutation_p.K572Q Q86XU0 ZN677_HUMAN zinc finger protein 677 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TCATTATATTTGATATGTTTT 0.294000 4 16 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70141059 70141059 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:70141059G>C ENST00000388768.2 - 11 1468 c.1142C>G c.(1141-1143)aCt>aGt p.T381S RUFY2_ENST00000399200.2_Missense_Mutation_p.T312S|RUFY2_ENST00000602465.1_Missense_Mutation_p.T346S|RUFY2_ENST00000454950.2_Missense_Mutation_p.T288S|RUFY2_ENST00000472394.2_5'UTR NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 395 nucleus metal ion binding NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 GCCTATCAGAGTATCTTGTTT 0.363000 17 86 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6719166 6719166 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:6719166A>T ENST00000338694.2 - 4 601 c.472T>A c.(472-474)Tcc>Acc p.S158T TEKT1_ENST00000535086.1_Missense_Mutation_p.S12T NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 158 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) ATCTGCTCGGAAGCCTCCTCC 0.537000 10 28 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28261263 28261263 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:28261263C>G ENST00000354638.3 - 8 1032 c.877G>C c.(877-879)Gag>Cag p.E293Q OCA2_ENST00000353809.5_Missense_Mutation_p.E293Q|OCA2_ENST00000382996.2_Missense_Mutation_p.E293Q NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 293 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) GTCAGTACCTCAAAGGTCCTG 0.502000 Oculocutaneous Albinism 11 43 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123166800 123166800 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:123166800C>T ENST00000462833.1 - 1 1805 c.593G>A c.(592-594)gGg>gAg p.G198E NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 198 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) cgcgccgggccccgcgcccgA 0.746000 6 13 0 0 1 0 0 CPXM1 56265 broad.mit.edu 37 20 2776663 2776663 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:2776663G>A ENST00000380605.2 - 10 1451 c.1387C>T c.(1387-1389)Cca>Tca p.P463S NM_001184699.1|NM_019609.4 NP_001171628.1|NP_062555.1 Q96SM3 CPXM1_HUMAN carboxypeptidase X (M14 family), member 1 463 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 GTGGGCAATGGCAGGTGATGG 0.572000 19 122 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149497458 149497458 + RNA SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:149497458C>A ENST00000378016.2 + 0 7216 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGCGTGGAACAGGCGCAGGT 0.687000 12 29 2.31682e-05 2.46852e-05 1 1 0 KRT12 3859 broad.mit.edu 37 17 39021183 39021183 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:39021183C>T ENST00000251643.4 - 3 705 c.682G>A c.(682-684)Gta>Ata p.V228I NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 228 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TCGGCCTCTACGCCCTGGCGC 0.572000 21 74 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6702151 6702151 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:6702151C>T ENST00000245907.6 - 19 2519 c.2427G>A c.(2425-2427)atG>atA p.M809I NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 809 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCTTGTCCGACATGCTCACAG 0.498000 15 52 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34180193 34180193 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:34180193G>A ENST00000262622.3 + 2 784 c.26G>A c.(25-27)cGg>cAg p.R9Q CHST8_ENST00000434302.1_Missense_Mutation_p.R9Q|CHST8_ENST00000438847.2_Missense_Mutation_p.R9Q|CHST8_ENST00000604556.1_Missense_Mutation_p.R9Q NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 9 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity p.R9Q(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GGAACAATGCGGCTGGCCTGC 0.642000 19 103 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15889300 15889300 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr21:15889300G>A ENST00000285670.2 - 4 570 c.396C>T c.(394-396)ggC>ggT p.G132G SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.G64G NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 64 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TACCCAAACCGCCTCCATTAT 0.338000 8 18 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131343203 131343203 + Silent SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr9:131343203G>T ENST00000372739.3 + 11 1436 c.1326G>T c.(1324-1326)ctG>ctT p.L442L SPTAN1_ENST00000372731.4_Silent_p.L442L|SPTAN1_ENST00000358161.5_Silent_p.L442L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 442 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCCCCAAGCTGACCGTCCTTT 0.592000 12 40 2.61681e-11 3.022e-11 1 1 0 COL23A1 91522 broad.mit.edu 37 5 177715332 177715332 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:177715332C>T ENST00000390654.3 - 5 791 c.434G>A c.(433-435)gGc>gAc p.G145D COL23A1_ENST00000407622.1_Intron NM_173465.3 NP_775736.2 Q86Y22 CONA1_HUMAN collagen, type XXIII, alpha 1 145 Collagen-like 1.|Gly-rich. collagen|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172) TACCGGGTAGCCATCTCGTCC 0.418000 48 134 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170587 90170587 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:90170587T>C ENST00000333209.3 - 2 1193 c.675A>G c.(673-675)ggA>ggG p.G225G NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 225 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) CACAGATGGCTCCCTGCCTTT 0.542000 7 57 0 0 1 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337979 13337979 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:13337979T>C ENST00000380622.2 - 1 539 c.75A>G c.(73-75)ggA>ggG p.G25G GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 25 Josephin. protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 TAAAATATTCTCCTTGCAATA 0.418000 11 85 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96593000 96593000 + Missense_Mutation SNP A A G rs111976783 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:96593000A>G ENST00000456556.1 - 28 1985 c.1901T>C c.(1900-1902)aTa>aCa p.I634T ankyrin repeat domain 36C p.I634T(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 TTCTGTGGCTATATTTGAAAC 0.338000 3 52 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113237011 113237011 + Missense_Mutation SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr8:113237011T>G ENST00000297405.5 - 71 11357 c.11113A>C c.(11113-11115)Aca>Cca p.T3705P CSMD3_ENST00000352409.3_Missense_Mutation_p.T3635P|CSMD3_ENST00000343508.3_Missense_Mutation_p.T3665P|CSMD3_ENST00000455883.2_Missense_Mutation_p.T3536P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3705 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TATACCATTGTGCAAACCGTG 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 63 88 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119453 83119453 + Nonsense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:83119453T>A ENST00000307792.3 - 2 720 c.253A>T c.(253-255)Aga>Tga p.R85* SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R25* NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 85 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TCACTGATTCTCTCCAAGCTG 0.403000 10 50 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196879474 196879474 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:196879474G>A ENST00000367416.2 + 6 997 c.860G>A c.(859-861)aGa>aAa p.R287K CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.R41K|CFHR2_ENST00000367421.3_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 AATACGCGTAGACCATACTTT 0.343000 7 52 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95552569 95552569 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:95552569C>A ENST00000371418.4 + 6 833 c.573C>A c.(571-573)acC>acA p.T191T LGI1_ENST00000542308.1_Silent_p.T143T|LGI1_ENST00000371413.3_Silent_p.T191T NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 191 LRRCT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) TTGGCCACACCAATGCAACTG 0.438000 29 133 3.73148e-12 4.33724e-12 1 1 0 PDK4 5166 broad.mit.edu 37 7 95222162 95222162 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:95222162C>A ENST00000005178.5 - 4 636 c.439G>T c.(439-441)Gtt>Ttt p.V147F NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 147 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) ACTGGGTCAACTGTACAGGCA 0.388000 15 49 7.93312e-07 8.60623e-07 1 1 0 OR6M1 390261 broad.mit.edu 37 11 123676227 123676227 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:123676227C>A ENST00000309154.2 - 1 868 c.831G>T c.(829-831)gtG>gtT p.V277V NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GAGGGGTCACCACTGTGATGA 0.473000 21 90 3.85864e-22 4.66687e-22 1 1 0 INPP4A 3631 broad.mit.edu 37 2 99179952 99179952 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:99179952C>A ENST00000074304.5 + 19 2288 c.1895C>A c.(1894-1896)cCg>cAg p.P632Q INPP4A_ENST00000409851.3_Missense_Mutation_p.P627Q|INPP4A_ENST00000409016.3_Missense_Mutation_p.P593Q|INPP4A_ENST00000545415.1_Missense_Mutation_p.P593Q|INPP4A_ENST00000523221.1_Missense_Mutation_p.P632Q|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409540.3_Missense_Mutation_p.P593Q NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 632 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCCCTTTACCCGCTGCTGACC 0.532000 8 21 0.000157383 0.000165715 1 1 0 NEXN 91624 broad.mit.edu 37 1 78408471 78408471 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:78408471C>T ENST00000330010.8 + 12 2090 c.1793C>T c.(1792-1794)tCt>tTt p.S598F NEXN_ENST00000334785.7_Missense_Mutation_p.S662F|NEXN_ENST00000457030.1_Missense_Mutation_p.S648F|NEXN_ENST00000480732.1_3'UTR NM_001172309.1 NP_001165780.1 Q0ZGT2 NEXN_HUMAN nexilin (F actin binding protein) 662 Ig-like. regulation of cell migration|regulation of cytoskeleton organization cytoskeleton|Z disc actin filament binding|structural constituent of muscle breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Colorectal(170;0.114) AATAAAGGATCTGCAGCTAGT 0.313000 7 44 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266460 65266460 + RNA SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:65266460T>C ENST00000534336.1 + 0 1228 NR_002819.2 GTGATCGAATTCCGGTGATGC 0.502000 29 115 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7677137 7677137 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:7677137C>A ENST00000446248.2 + 13 1940 c.1839C>A c.(1837-1839)ccC>ccA p.P613P CAMSAP3_ENST00000160298.4_Silent_p.P586P NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 586 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CGGGGTCCCCCACGTCCACTC 0.652000 3 11 6.4e-05 6.7787e-05 1 1 0 IGFBP6 3489 broad.mit.edu 37 12 53495921 53495921 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:53495921C>T ENST00000548547.1 + 4 969 c.687C>T c.(685-687)agC>agT p.S229S IGFBP6_ENST00000301464.3_Silent_p.S231S|IGFBP6_ENST00000549628.1_3'UTR P24592 IBP6_HUMAN insulin-like growth factor binding protein 6 231 Thyroglobulin type-1. negative regulation of cell proliferation|regulation of cell growth|signal transduction large_intestine(1)|lung(3)|ovary(1)|pancreas(1) 6 GCAATGGAAGCTCCTCCTGCC 0.622000 15 38 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102470995 102470995 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:102470995G>C ENST00000360184.4 + 24 5188 c.5024G>C c.(5023-5025)gGt>gCt p.G1675A NM_001376.4 NP_001367.2 Q14204 DYHC1_HUMAN dynein, cytoplasmic 1, heavy chain 1 1675 Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 GTTGTTTTGGGTATTTCATCT 0.353000 6 38 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57113701 57113701 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:57113701G>A ENST00000454682.1 - 3 1894 c.1613C>T c.(1612-1614)tCt>tTt p.S538F NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.S538F|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 12 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTTCAAGAGAGGCAGGTAC 0.493000 T BCL6 NHL 14 48 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61504723 61504723 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr11:61504723C>T ENST00000257215.5 + 14 1557 c.1441C>T c.(1441-1443)Ctc>Ttc p.L481F NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 481 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) TGCTGCCATCCTCTCCTTCCT 0.647000 60 283 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53224437 53224437 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:53224437T>C ENST00000452825.3 - 19 3607 c.3075A>G c.(3073-3075)aaA>aaG p.K1025K KDM5C_ENST00000404049.3_Silent_p.K1091K|KDM5C_ENST00000375379.3_Silent_p.K1092K|KDM5C_ENST00000375383.3_Silent_p.K1051K|KDM5C_ENST00000375401.3_Silent_p.K1092K NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1092 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 AGCAAGAATTTTTCTTGAGGA 0.562000 """N, F, S""" clear cell renal carcinoma 4 10 0 0 1 0 0 EEF1DP3 196549 broad.mit.edu 37 13 32527154 32527154 + RNA SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr13:32527154A>G ENST00000428783.1 + 0 854 GGCAGCGACAATGAGGCAACA 0.597000 13 56 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120193152 120193152 + Missense_Mutation SNP A A G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:120193152A>G ENST00000450251.1 + 12 2681 c.2137A>G c.(2137-2139)Atg>Gtg p.M713V USP53_ENST00000274030.6_Missense_Mutation_p.M713V Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 713 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 TGGTACAGTAATGGATATCAG 0.363000 25 101 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48062700 48062700 + Missense_Mutation SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:48062700G>A ENST00000316364.5 + 19 2379 c.1940G>A c.(1939-1941)cGa>cAa p.R647Q SEMA6D_ENST00000537942.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000558014.1_Missense_Mutation_p.R585Q|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D584N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.R604Q|SEMA6D_ENST00000389433.2_Missense_Mutation_p.R628Q|SEMA6D_ENST00000358066.4_Missense_Mutation_p.R585Q|SEMA6D_ENST00000536845.2_Missense_Mutation_p.R647Q|SEMA6D_ENST00000389428.3_Missense_Mutation_p.R572Q|SEMA6D_ENST00000354744.4_Missense_Mutation_p.R591Q|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D584N NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 647 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TCAGGTGTACGATGGGAAGTC 0.423000 11 84 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131688556 131688556 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:131688556A>T ENST00000409359.1 + 3 3792 c.2594A>T c.(2593-2595)gAg>gTg p.E865V ARHGEF4_ENST00000392953.3_Missense_Mutation_p.E9V|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.E9V|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.E9V|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.E9V Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 9 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CCAGCAGGTGAGAAGCCCAGT 0.572000 13 60 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625891 29625891 + Silent SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:29625891C>G ENST00000278882.3 + 5 515 c.135C>G c.(133-135)ggC>ggG p.G45G FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGAAATCTGGCTATGGAAAAT 0.343000 5 67 0 0 1 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817705 200817705 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:200817705C>G ENST00000358823.2 + 11 2078 c.1808C>G c.(1807-1809)aCt>aGt p.T603S CAMSAP2_ENST00000236925.4_Missense_Mutation_p.T614S|CAMSAP2_ENST00000413307.2_Missense_Mutation_p.T587S NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 614 cytoplasm|microtubule protein binding AGTCCCATAACTGACAATACT 0.353000 18 46 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103558659 103558659 + Missense_Mutation SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:103558659T>G ENST00000361464.3 - 9 2144 c.1749A>C c.(1747-1749)caA>caC p.Q583H MGEA5_ENST00000439817.1_Missense_Mutation_p.Q530H|MGEA5_ENST00000370094.3_Missense_Mutation_p.Q583H|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Missense_Mutation_p.Q530H NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 583 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CTCGAAGCCATTGAAATTCCC 0.453000 8 69 0 0 1 0 0 ALCAM 214 broad.mit.edu 37 3 105260482 105260482 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:105260482G>T ENST00000306107.5 + 8 1364 c.864G>T c.(862-864)caG>caT p.Q288H ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000486979.2_Missense_Mutation_p.Q237H|ALCAM_ENST00000472644.2_Missense_Mutation_p.Q288H NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 288 Ig-like C2-type 1. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 AAAAGGGACAGCCCGAAGGAA 0.393000 8 33 0.00448238 0.00461119 1 1 0 CT45A5 441521 broad.mit.edu 37 X 134947936 134947936 + Missense_Mutation SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:134947936A>T ENST00000370724.3 - 3 633 c.389T>A c.(388-390)gTa>gAa p.V130E CT45A5_ENST00000491480.1_Missense_Mutation_p.V130E|CT45A4_ENST00000420087.2_Intron NM_001007551.3|NM_001172288.1 NP_001007552.1|NP_001165759.1 Q6NSH3 CT455_HUMAN cancer/testis antigen family 45, member A5 130 endometrium(1)|large_intestine(2)|lung(6) 9 TTCCTTCACTACTTGACATTT 0.383000 28 111 0 0 1 0 0 MYL4 4635 broad.mit.edu 37 17 45299149 45299149 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:45299149C>G ENST00000354968.1 + 5 543 c.415C>G c.(415-417)Ctg>Gtg p.L139V MYL4_ENST00000572316.1_Missense_Mutation_p.L139V|MYL4_ENST00000393450.1_Missense_Mutation_p.L139V NM_001002841.1 NP_001002841.1 P12829 MYL4_HUMAN myosin, light chain 4, alkali; atrial, embryonic 139 EF-hand 2. cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction A band|cytosol|muscle myosin complex actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1) 11 CGTGGAGGGCCTGCGTGTCTT 0.567000 23 71 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115978244 115978244 + Missense_Mutation SNP G G T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:115978244G>T ENST00000251864.2 + 18 2548 c.2395G>T c.(2395-2397)Gat>Tat p.D799Y TDRD1_ENST00000369280.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369282.1_Missense_Mutation_p.D799Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D403Y NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 799 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) ACATTTTGTGGATTATGGAAA 0.393000 22 76 1.2644e-06 1.36342e-06 1 1 0 GRIN2B 2904 broad.mit.edu 37 12 13828685 13828685 + Nonsense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:13828685C>T ENST00000279593.3 - 4 1328 c.1119G>A c.(1117-1119)tgG>tgA p.W373* NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 373 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTACCCTTTCCCACTTCCTCT 0.413000 10 55 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153583376 153583376 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:153583376C>A ENST00000422373.1 - 30 5258 c.5010G>T c.(5008-5010)gcG>gcT p.A1670A FLNA_ENST00000360319.4_Silent_p.A1670A|FLNA_ENST00000369850.3_Silent_p.A1678A|FLNA_ENST00000344736.4_Silent_p.A1670A|FLNA_ENST00000369856.3_5'UTR NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1678 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTTTGCCTGCCGCCTTAGTGT 0.612000 OREG0003595 type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 16 101 3.41278e-10 3.91595e-10 1 1 0 EMD 2010 broad.mit.edu 37 X 153609536 153609536 + Silent SNP T T G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:153609536T>G ENST00000369842.4 + 6 1032 c.744T>G c.(742-744)gcT>gcG p.A248A EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Silent_p.A213A NM_000117.2 NP_000108.1 P50402 EMD_HUMAN emerin 248 cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane actin binding|beta-tubulin binding lung(5) 5 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCATGCAGGCTGAAGAAGGCA 0.592000 9 58 0 0 1 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765864 18765864 + Missense_Mutation SNP C C G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr2:18765864C>G ENST00000304081.4 - 4 739 c.639G>C c.(637-639)gaG>gaC p.E213D NT5C1B_ENST00000600945.1_Missense_Mutation_p.E273D|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E273D|NT5C1B_ENST00000359846.2_Missense_Mutation_p.E273D NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CGTCCTCGTCCTCCCGCTGCT 0.677000 6 12 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24641964 24641964 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:24641964C>T ENST00000311457.3 + 3 698 c.99C>T c.(97-99)taC>taT p.Y33Y REC8_ENST00000559919.1_Silent_p.Y33Y O95072 REC8_HUMAN REC8 meiotic recombination protein 33 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) AGCGCGAATACCTGAGGGTGA 0.637000 14 57 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578176 7578176 + Splice_Site SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:7578176C>A ENST00000420246.2 - 6 805 c.e6+1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAAACCAGACCTCAGGCGGC 0.527000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 6 22 0.0293803 0.0297123 1 1 0 KRT86 3892 broad.mit.edu 37 12 52699156 52699156 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:52699156C>T ENST00000293525.5 + 5 920 c.868C>T c.(868-870)Cgg>Tgg p.R290W KRT86_ENST00000544024.1_Missense_Mutation_p.R290W|KRT86_ENST00000423955.2_Missense_Mutation_p.R290W NM_002284.3 NP_002275.1 O43790 KRT86_HUMAN keratin 86 290 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 10 BRCA - Breast invasive adenocarcinoma(357;0.189) CACCCGTAGCCGGGCTGAGGC 0.547000 13 56 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67081772 67081772 + Silent SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:67081772A>T ENST00000284425.2 - 31 4197 c.4023T>A c.(4021-4023)gcT>gcA p.A1341A ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1341 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) CTACCTCTCCAGCAGTTGGCT 0.348000 8 34 0 0 1 0 0 TMEM35 59353 broad.mit.edu 37 X 100349725 100349725 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:100349725T>C ENST00000372930.4 + 2 567 c.284T>C c.(283-285)cTg>cCg p.L95P TMEM35_ENST00000478351.1_3'UTR NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 95 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 TTCTTCCTACTGTTGCTGGTG 0.552000 33 161 0 0 1 0 0 CLYBL 171425 broad.mit.edu 37 13 100518604 100518604 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr13:100518604C>A ENST00000376355.3 + 5 674 c.643C>A c.(643-645)Cga>Aga p.R215R CLYBL_ENST00000444838.2_Silent_p.R215R|CLYBL_ENST00000376360.1_Silent_p.R249R|CLYBL_ENST00000376354.1_Silent_p.R215R|CLYBL_ENST00000339105.4_Silent_p.R249R NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 249 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CATTGACTTTCGAGATGGAGC 0.468000 30 87 8.4185e-14 9.97955e-14 1 1 0 FTHL17 53940 broad.mit.edu 37 X 31090069 31090069 + Translation_Start_Site SNP A A T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:31090069A>T ENST00000359202.3 - 1 101 c.2T>A c.(1-3)aTg>aAg p.M1K NM_031894.2 NP_114100.1 Q9BXU8 FHL17_HUMAN ferritin, heavy polypeptide-like 17 1 cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity p.M1T(2) endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 GGCGGTGGCCATGGCGGGCAG 0.647000 13 42 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49204343 49204343 + Silent SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:49204343C>A ENST00000327979.2 - 21 3147 c.2736G>T c.(2734-2736)tcG>tcT p.S912S FAM65C_ENST00000535356.1_Silent_p.S916S|FAM65C_ENST00000462842.1_5'UTR|FAM65C_ENST00000045083.2_Silent_p.S912S Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 912 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TTTTACCGAACGACAGTGTGG 0.612000 OREG0026030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 63 2.27111e-07 2.49404e-07 1 1 0 OR2T33 391195 broad.mit.edu 37 1 248436216 248436216 + Missense_Mutation SNP G G C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:248436216G>C ENST00000318021.2 - 1 922 c.901C>G c.(901-903)Cgg>Ggg p.R301G NM_001004695.1 NP_001004695.1 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, member 33 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4) 67 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCCAGCCACCGTTTCAGGGCT 0.443000 39 160 0 0 1 0 0 CCDC91 55297 broad.mit.edu 37 12 28702085 28702085 + Silent SNP G G A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:28702085G>A ENST00000545336.1 + 16 1724 c.1305G>A c.(1303-1305)acG>acA p.T435T CCDC91_ENST00000306172.5_Silent_p.T405T|CCDC91_ENST00000381259.1_Silent_p.T435T|CCDC91_ENST00000539107.1_Silent_p.T399T|CCDC91_ENST00000381256.1_Silent_p.T399T|CCDC91_ENST00000540401.1_3'UTR Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 435 protein transport Golgi apparatus|membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1) 22 Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184) TAATAGCTACGGAACCAGTTG 0.383000 15 100 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110653294 110653294 + Missense_Mutation SNP C C A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:110653294C>A ENST00000338081.3 - 2 747 c.576G>T c.(574-576)agG>agT p.R192S DCX_ENST00000488120.1_Missense_Mutation_p.R111S|DCX_ENST00000371993.2_Missense_Mutation_p.R111S|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R111S|DCX_ENST00000356220.3_Missense_Mutation_p.R111S NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 192 Doublecortin 1. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TTCCGATCTTCCTGGATCCAT 0.502000 21 115 1.28384e-07 1.41856e-07 1 1 0 XIST 7503 broad.mit.edu 37 X 73068802 73068802 + RNA SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:73068802T>C ENST00000429829.1 - 0 3786 NR_001564.2 TATCCATTAATATTCCAAGGG 0.388000 8 30 0 0 1 0 0 SEL1L2 80343 broad.mit.edu 37 20 13839998 13839998 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr20:13839998T>C ENST00000284951.5 - 18 1802 c.1728A>G c.(1726-1728)acA>acG p.T576T SEL1L2_ENST00000378072.5_Intron|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 576 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 TGCTGTAGTGTGTGGCTGCTG 0.403000 9 42 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85696000 85696000 + Missense_Mutation SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:85696000C>T ENST00000322366.6 - 29 5134 c.4727G>A c.(4726-4728)gGt>gAt p.G1576D WDFY3_ENST00000295888.4_Missense_Mutation_p.G1576D Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1576 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCTAGGAAAACCTTGCAGTAA 0.388000 14 53 0 0 1 0 0 PBXIP1 57326 broad.mit.edu 37 1 154919109 154919109 + Silent SNP C C T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr1:154919109C>T ENST00000368463.3 - 10 1112 c.1041G>A c.(1039-1041)cgG>cgA p.R347R PBXIP1_ENST00000539880.1_Silent_p.R174R|PBXIP1_ENST00000368465.1_Silent_p.R318R|PBXIP1_ENST00000542459.1_Silent_p.R192R NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 347 cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) CATCTGGGCCCCGGACACAGT 0.697000 13 59 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40667757 40667757 + Missense_Mutation SNP T T A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr21:40667757T>A ENST00000342449.3 - 7 599 c.521A>T c.(520-522)cAg>cTg p.Q174L BRWD1_ENST00000333229.2_Missense_Mutation_p.Q174L|BRWD1_ENST00000380800.3_Missense_Mutation_p.Q174L NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTTTATATGCTGATACATAGT 0.363000 3 68 0 0 1 0 0 CCDC7 221016 broad.mit.edu 37 10 32740647 32740647 + Missense_Mutation SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:32740647T>C ENST00000545067.1 + 2 373 c.77T>C c.(76-78)cTa>cCa p.L26P CCDC7_ENST00000539197.1_Missense_Mutation_p.L26P|CCDC7_ENST00000537047.1_Missense_Mutation_p.L26P|CCDC7_ENST00000277657.6_Missense_Mutation_p.L26P|CCDC7_ENST00000362006.5_Missense_Mutation_p.L26P|CCDC7_ENST00000535327.1_Missense_Mutation_p.L26P Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 26 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) AAAAAAGGACTACATAATTTA 0.348000 3 64 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25635063 25635065 + In_Frame_Del DEL AAT AAT - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:25635063_25635065delAAT ENST00000330688.4 + 6 1277_1279 c.856_858delAAT c.(856-858)del p.N286del RARB_ENST00000462272.1_Intron|RARB_ENST00000437042.2_In_Frame_Del_p.N174del|RARB_ENST00000404969.1_In_Frame_Del_p.N293del|RARB_ENST00000458646.1_In_Frame_Del_p.N174del NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 293 Ligand-binding. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) CCTTACCCTAAATCGAACTCAGA 0.443 30 78 --- --- --- --- ZNF717 100131827 broad.mit.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T rs76346895 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr3:75790810_75790811insT ENST00000422325.1 - 3 456_457 c.134_135insA c.(133-135)actfs p.T45fs ZNF717_ENST00000477374.1_Frame_Shift_Ins_p.T45fs|ZNF717_ENST00000478296.1_5'UTR|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.T38fs NM_001128223.1 NP_001121695.1 C9JSV9 C9JSV9_HUMAN zinc finger protein 717 45 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7) 19 CCCTGTACAGGGTCCTCTGAGC 0.510 2 4 --- --- --- --- THAP9 79725 broad.mit.edu 37 4 83828954 83828955 + Frame_Shift_Ins INS - - T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr4:83828954_83828955insT ENST00000302236.5 + 4 648_649 c.597_598insT c.(595-600)ttataafs p.L*199fs NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 199 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) AGTGGGAGTTATATAATTGGAG 0.292 12 36 --- --- --- --- FAT2 2196 broad.mit.edu 37 5 150947521 150947522 + Frame_Shift_Del DEL CT CT - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:150947521_150947522delCT ENST00000261800.5 - 1 983_984 c.971_972delAG c.(970-972)gfs p.E324fs NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 324 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATGAAGGTACTCCATCCAGTT 0.505 30 124 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176707765 176707766 + Frame_Shift_Ins INS - - T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr5:176707765_176707766insT ENST00000439151.2 + 18 5867_5868 c.5822_5823insT c.(5821-5823)tccfs p.S1941fs NSD1_ENST00000361032.4_Frame_Shift_Ins_p.S1838fs|NSD1_ENST00000354179.4_Frame_Shift_Ins_p.S1672fs|NSD1_ENST00000347982.4_Frame_Shift_Ins_p.S1672fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1941 SET. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) AAGCGCCAATATCCAGAGGTTG 0.465 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 14 50 --- --- --- --- C6orf203 51250 broad.mit.edu 37 6 107361060 107361061 + Frame_Shift_Ins INS - - T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr6:107361060_107361061insT ENST00000443043.1 + 3 786_787 c.111_112insT c.(109-114)tcacaafs p.Q38fs C6orf203_ENST00000405204.2_Frame_Shift_Ins_p.Q33fs|C6orf203_ENST00000311381.5_Frame_Shift_Ins_p.Q33fs NM_001142470.1 NP_001135942.1 Q9P0P8 CF203_HUMAN chromosome 6 open reading frame 203 33 large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1) 8 Breast(9;0.00124)|all_epithelial(6;0.0729) all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23) BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244) BRCA - Breast invasive adenocarcinoma(108;0.117) CACCTTCATCATACAAACTCTG 0.411 26 76 --- --- --- --- FSCN1 6624 broad.mit.edu 37 7 5632884 5632885 + Frame_Shift_Ins INS - - G TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr7:5632884_5632885insG ENST00000382361.3 + 1 431_432 c.317_318insG c.(316-318)ggcfs p.G106fs FSCN1_ENST00000340250.6_Frame_Shift_Ins_p.G85fs NM_003088.3 NP_003079.1 Q16658 FSCN1_HUMAN fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) 106 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CTGCAGTCCGAGGCGCACCGGC 0.698 8 13 --- --- --- --- A1CF 29974 broad.mit.edu 37 10 52573711 52573712 + Frame_Shift_Ins INS - - T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:52573711_52573712insT ENST00000395489.2 - 12 1627_1628 c.1231_1232insA c.(1231-1233)agafs p.R411fs A1CF_ENST00000373995.3_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000374001.1_Frame_Shift_Ins_p.R410fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.R410fs|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000282641.2_Frame_Shift_Ins_p.R418fs|A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.R363fs NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 418 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TTTGTCTTCTCTTTTGTCTCCT 0.515 17 96 --- --- --- --- FAM35A 54537 broad.mit.edu 37 10 88912464 88912465 + Frame_Shift_Ins INS - - T TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr10:88912464_88912465insT ENST00000298786.4 + 3 1467_1468 c.1353_1354insT c.(1351-1356)ccgccafs p.P452fs FAM35A_ENST00000298784.1_Frame_Shift_Ins_p.P452fs Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 452 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 TGCTATCTCCATGCCATGTGAA 0.312 8 16 --- --- --- --- SLC38A4 55089 broad.mit.edu 37 12 47172111 47172112 + Frame_Shift_Ins INS - - A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:47172111_47172112insA ENST00000447411.1 - 11 1239_1240 c.1033_1034insT c.(1033-1035)ccafs p.P345fs SLC38A4_ENST00000266579.4_Frame_Shift_Ins_p.P345fs NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 345 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CTCAGGGTGGCATACAAAAGCA 0.406 14 73 --- --- --- --- CIT 11113 broad.mit.edu 37 12 120262979 120262981 + In_Frame_Del DEL ATA ATA - rs149407793 by1000genomes TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr12:120262979_120262981delATA ENST00000392521.2 - 8 1000_1002 c.945_947delTAT c.(943-948)atg>at p.IM315del CIT_ENST00000261833.7_In_Frame_Del_p.IM315del NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 315 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGGAAATTCATAATGTTATTGA 0.463 19 82 --- --- --- --- LRP10 26020 broad.mit.edu 37 14 23345929 23345930 + Frame_Shift_Ins INS - - A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:23345929_23345930insA ENST00000359591.4 + 6 2147_2148 c.1456_1457insA c.(1456-1458)gatfs p.D486fs LRP10_ENST00000546834.1_Frame_Shift_Ins_p.D486fs|LRP10_ENST00000470660.1_3'UTR NM_014045.3 NP_054764.2 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 10 486 endocytosis coated pit|integral to membrane central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2) 32 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) GATGGAGGCTGAGATTGTGCAG 0.559 17 92 --- --- --- --- PAPOLA 10914 broad.mit.edu 37 14 97031283 97031299 + Splice_Site DEL CATTCTCAGAAAACATC CATTCTCAGAAAACATC - rs79835114 TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr14:97031283_97031299delCATTCTCAGAAAACATC ENST00000216277.8 + 22 2362_2370 c.2142_splice c.e22-1 p.Q714_splice PAPOLA_ENST00000392990.2_Splice_Site_p.Q693_splice NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 714 Required for interaction with NUDT21. mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) TCTTTGCTTTCATTCTCAGAAAACATCCAGTACAGAC 0.346 8 76 --- --- --- --- SNHG14 104472715 broad.mit.edu 37 15 25328182 25328183 + RNA DEL AC AC - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr15:25328182_25328183delAC ENST00000546682.1 + 0 188 SNHG14_ENST00000549804.2_RNA NR_003361.1 CTGCAAGGTAACACACACACAC 0.475 2 4 --- --- --- --- SUZ12P1 440423 broad.mit.edu 37 17 29086616 29086616 + RNA DEL A A - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr17:29086616delA ENST00000582557.1 + 0 1064 TTGTGAATGTAAAAAAAAAGT 0.299 2 4 --- --- --- --- KEAP1 9817 broad.mit.edu 37 19 10610334 10610335 + Frame_Shift_Ins INS - - A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:10610334_10610335insA ENST00000171111.5 - 2 922_923 c.375_376insT c.(373-378)atagggfs p.G126fs KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.G126fs NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 126 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 92 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) TGGATACCCTCAATGGACACCA 0.594 13 57 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15276206 15276207 + Frame_Shift_Ins INS - - A TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:15276206_15276207insA ENST00000263388.2 - 31 5862_5863 c.5787_5788insT c.(5785-5790)cactgafs p.*1930fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1930 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) TTGACATCAGCATGGCTGGCGA 0.574 11 81 --- --- --- --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC TCC - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr19:47935681_47935683delTCC ENST00000236877.6 - 9 2525_2527 c.2130_2132delGGA c.(2128-2133)gac>ga p.ED710del SLC8A2_ENST00000542837.1_In_Frame_Del_p.ED466del|SLC8A2_ENST00000539381.1_In_Frame_Del_p.ED173del|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 7 165 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11058447 11058450 + RNA DEL AAAC AAAC - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chr21:11058447_11058450delAAAC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCAAAATATTAAACAAAGGATTCG 0.294 5 9 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994844 140994846 + In_Frame_Del DEL CCT CCT - TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d613ee7-dac3-4914-bd65-b4f8496a97c2 d123d1de-8bfa-4df3-9ec2-e7f165df4228 g.chrX:140994844_140994846delCCT ENST00000285879.4 + 4 1940_1942 c.1654_1656delCCT c.(1654-1656)del p.P553del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 553 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGAGCCCTCCTCAGGGGG 0.567 HNSCC(15;0.026) 8 603 --- --- --- ---