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 NALCN 259232 broad.mit.edu 37 13 101728270 101728270 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:101728270C>T ENST00000251127.6 - 35 3989 c.3908G>A c.(3907-3909)gGc>gAc p.G1303D NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1303 integral to membrane sodium channel activity|voltage-gated ion channel activity p.G1303D(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CACACAAGCGCCCATCATGTA 0.318000 38 33 0 0 0.827153 0 0 N4BP3 23138 broad.mit.edu 37 5 177546877 177546877 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:177546877G>T ENST00000274605.5 + 2 652 c.293G>T c.(292-294)aGc>aTc p.S98I NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 98 cytoplasmic vesicle membrane p.S98I(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) 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) GGTGACTTCAGCAAGACCTCG 0.612000 43 31 2.65591e-33 4.16544e-33 0.870114 1 0 CHD9 80205 broad.mit.edu 37 16 53330980 53330980 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:53330980C>A ENST00000566029.1 + 30 5832 c.5623C>A c.(5623-5625)Cta>Ata p.L1875I CHD9_ENST00000398510.3_Missense_Mutation_p.L1875I|CHD9_ENST00000447540.1_Missense_Mutation_p.L1875I|CHD9_ENST00000564845.1_Missense_Mutation_p.L1875I Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 1875 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.L1875I(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TATGGCTAGGCTACATAAGAA 0.383000 4 109 0.00024832 0.000263165 0.150653 1 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 7 189 0 0 0.335167 0 0 PTPRB 5787 broad.mit.edu 37 12 70933485 70933485 + Splice_Site SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:70933485G>C ENST00000334414.6 - 26 5742 c.5696_splice c.e26-1 p.P1900_splice PTPRB_ENST00000451516.2_Splice_Site_p.P1592_splice|PTPRB_ENST00000261266.5_Splice_Site_p.P1682_splice|PTPRB_ENST00000550857.1_Splice_Site_p.P1592_splice|PTPRB_ENST00000538708.1_Splice_Site_p.P1592_splice|PTPRB_ENST00000550358.1_Splice_Site_p.P1812_splice NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1682 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.P1682A(2)|p.P1900A(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ATTTTTATTGGACTGTAATTA 0.353000 5 10 0 0 0.217242 0 0 USP40 55230 broad.mit.edu 37 2 234436080 234436080 + Silent SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:234436080T>C ENST00000251722.6 - 13 1812 c.1695A>G c.(1693-1695)ttA>ttG p.L565L USP40_ENST00000427112.2_Silent_p.L565L|USP40_ENST00000450966.1_Silent_p.L577L Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 565 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.L577L(2) breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GGAGATCTCCTAAAGTTTTTC 0.438000 11 27 0 0 0.361761 0 0 MARCO 8685 broad.mit.edu 37 2 119739028 119739028 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:119739028G>C ENST00000541757.1 + 10 956 c.576G>C c.(574-576)atG>atC p.M192I MARCO_ENST00000327097.4_Missense_Mutation_p.M270I Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 270 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity p.M270I(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 CAGGGGTCATGGGGCCTCCTG 0.557000 6 24 0 0 0.217242 0 0 RGS7 6000 broad.mit.edu 37 1 241094038 241094038 + Nonsense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:241094038C>A ENST00000366565.1 - 6 745 c.364G>T c.(364-366)Gag>Tag p.E122* RGS7_ENST00000331110.7_Nonsense_Mutation_p.E96*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000407727.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366563.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.E122*|RGS7_ENST00000366562.4_Nonsense_Mutation_p.E122*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.E38*|RGS7_ENST00000348120.2_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 122 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.E122*(4) 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) TTTTCCGGCTCCCAACAATTT 0.388000 80 75 7.49063e-41 1.2105e-40 0.870114 1 0 HENMT1 113802 broad.mit.edu 37 1 109200156 109200156 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:109200156T>C ENST00000370032.5 - 3 487 c.67A>G c.(67-69)Acg>Gcg p.T23A HENMT1_ENST00000402983.1_Missense_Mutation_p.T23A|HENMT1_ENST00000493676.1_5'UTR|HENMT1_ENST00000370031.1_Missense_Mutation_p.T23A NM_144584.2 NP_653185.2 Q5T8I9 HENMT_HUMAN HEN1 methyltransferase homolog 1 (Arabidopsis) 23 gene silencing by RNA|piRNA metabolic process P granule metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity p.T23A(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 TGAATTGCCGTCTCCCTGGGA 0.393000 14 33 0 0 0.500413 0 0 TENM1 10178 broad.mit.edu 37 X 123526090 123526090 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:123526090C>T ENST00000422452.2 - 28 5563 c.5500G>A c.(5500-5502)Ggg>Agg p.G1834R TENM1_ENST00000371130.3_Missense_Mutation_p.G1827R|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.G1829R(1) ATGGGTCGCCCAGTCTGGTCA 0.418000 27 34 0 0 0.706142 0 0 OR9K2 441639 broad.mit.edu 37 12 55523903 55523903 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:55523903C>A ENST00000305377.5 + 1 439 c.351C>A c.(349-351)atC>atA p.I117I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I117I(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ACAAGTCTATCTCCTTTGCAG 0.448000 66 37 1.77267e-40 2.85677e-40 0.870114 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618691 77618691 + Nonsense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:77618691A>T ENST00000521891.2 + 2 2816 c.2368A>T c.(2368-2370)Aag>Tag p.K790* ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.K790*|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 790 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K790*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GACCAGCGAAAAGCACATGCA 0.488000 HNSCC(33;0.089) 8 18 0 0 0.278610 0 0 KLK13 26085 broad.mit.edu 37 19 51561823 51561823 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:51561823G>C ENST00000595793.1 - 4 659 c.617C>G c.(616-618)aCa>aGa p.T206R KLK13_ENST00000595547.1_Missense_Mutation_p.T133R|KLK13_ENST00000335422.3_Missense_Mutation_p.T54R NM_015596.1 NP_056411.1 Q9UKR3 KLK13_HUMAN kallikrein-related peptidase 13 206 Peptidase S1. proteolysis protein binding|serine-type endopeptidase activity p.T206R(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1) 16 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432) ACCCTCTTTTGTGCCGGCACA 0.527000 49 92 0 0 0.870114 0 0 CNTN3 5067 broad.mit.edu 37 3 74413726 74413726 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:74413726C>A ENST00000263665.6 - 9 1132 c.1105G>T c.(1105-1107)Ggt>Tgt p.G369C NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 369 Ig-like C2-type 4. cell adhesion anchored to membrane|plasma membrane protein binding p.G369C(1) 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) GTAAGGGCACCATTTTCTATC 0.343000 14 33 1.02788e-11 1.29593e-11 0.520397 1 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95481402 95481402 + RNA SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:95481402C>A ENST00000432432.2 - 0 1958 NR_040113.1 TTACCTATAGCAGCAGCCAGT 0.393000 23 74 1.9806e-07 2.25418e-07 0.624587 1 0 USH2A 7399 broad.mit.edu 37 1 216138679 216138679 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:216138679C>A ENST00000366943.2 - 37 7486 c.7100G>T c.(7099-7101)gGg>gTg p.G2367V USH2A_ENST00000307340.3_Missense_Mutation_p.G2367V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2367 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G2367V(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATAGAATATCCCAGTGAAAAG 0.358000 HNSCC(13;0.011) 31 99 7.11191e-15 9.60847e-15 0.769981 1 0 KCNH2 3757 broad.mit.edu 37 7 150647133 150647133 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:150647133G>A ENST00000430723.3 - 9 2533 c.2521C>T c.(2521-2523)Cct>Tct p.P841S KCNH2_ENST00000392968.2_Intron|KCNH2_ENST00000262186.5_Intron|KCNH2_ENST00000330883.4_Intron NM_172056.2 NP_742053.1 Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 0 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.P841S(1) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGAATTAAAGGAGCCCAGTGA 0.597000 4 5 0 0 0.184627 0 0 TMPPE 643853 broad.mit.edu 37 3 33135131 33135131 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:33135131T>A ENST00000342462.4 - 2 747 c.557A>T c.(556-558)cAg>cTg p.Q186L GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Missense_Mutation_p.Q49L|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 186 integral to membrane metal ion binding p.Q186L(1) breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 AGCCGGGGGCTGCGCGGCATT 0.607000 25 19 0 0 0.693898 0 0 BRS3 680 broad.mit.edu 37 X 135570277 135570277 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:135570277G>T ENST00000370648.3 + 1 232 c.4G>T c.(4-6)Gct>Tct p.A2S NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 2 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity p.A2S(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) AGAAGAAATGGCTCAAAGGCA 0.378000 21 5 1.55795e-14 2.08082e-14 0.608945 1 0 IGFN1 91156 broad.mit.edu 37 1 201185815 201185815 + Missense_Mutation SNP C C T rs35669472 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:201185815C>T ENST00000335211.4 + 16 9659 c.9529C>T c.(9529-9531)Cgg>Tgg p.R3177W IGFN1_ENST00000295591.8_Missense_Mutation_p.R337W NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 p.R3177W(2)|p.R337W(2) autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CTTCCGAGTGCGGGCTGTGAC 0.647000 26 28 0 0 0.769981 0 0 DPEP2 64174 broad.mit.edu 37 16 68026050 68026050 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:68026050A>G ENST00000412757.2 - 5 1102 c.437T>C c.(436-438)cTg>cCg p.L146P DPEP2_ENST00000572888.1_Missense_Mutation_p.L146P|DPEP2_ENST00000393847.1_Missense_Mutation_p.L146P Q9H4A9 DPEP2_HUMAN dipeptidase 2 146 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity p.L146P(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GGTGAGGCGCAGGGCATCCCG 0.607000 12 62 0 0 0.520397 0 0 CSMD3 114788 broad.mit.edu 37 8 113237069 113237069 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:113237069G>T ENST00000297405.5 - 71 11299 c.11055C>A c.(11053-11055)aaC>aaA p.N3685K CSMD3_ENST00000343508.3_Missense_Mutation_p.N3645K|CSMD3_ENST00000455883.2_Missense_Mutation_p.N3516K|CSMD3_ENST00000352409.3_Missense_Mutation_p.N3615K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3685 integral to membrane|plasma membrane p.N3685K(1)|p.N3645K(1) 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 CTGACTTTGCGTTGGTGTCAT 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 85 107 2.22156e-40 3.57036e-40 0.870114 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138712840 138712840 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:138712840C>T ENST00000389532.4 - 11 3731 c.3667G>A c.(3667-3669)Gtg>Atg p.V1223M CAMSAP1_ENST00000312405.6_Missense_Mutation_p.V945M|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.V1234M|CAMSAP1_ENST00000483991.1_5'UTR NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1223 cytoplasm|microtubule p.V1223M(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) GGCTCCTCCACGGGGACGCTC 0.597000 45 38 0 0 0.853193 0 0 WDR11 55717 broad.mit.edu 37 10 122630692 122630692 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:122630692A>T ENST00000263461.6 + 10 1551 c.1305A>T c.(1303-1305)gcA>gcT p.A435A NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 435 integral to membrane p.A435A(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GGCAAAGTGCAATTGCTGGGG 0.413000 6 24 0 0 0.248553 0 0 FAM135B 51059 broad.mit.edu 37 8 139263230 139263230 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:139263230C>G ENST00000395297.1 - 6 566 c.396G>C c.(394-396)atG>atC p.M132I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 132 p.M132I(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGCTGCTGACCATCGGTGCCC 0.577000 HNSCC(54;0.14) 19 121 0 0 0.654019 0 0 ERBB3 2065 broad.mit.edu 37 12 56487890 56487890 + Nonsense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:56487890C>T ENST00000267101.3 + 14 2061 c.1621C>T c.(1621-1623)Cga>Tga p.R541* ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R482* NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 541 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.R541*(1) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAGGGAGCCTCGAGAATTTGC 0.562000 12 32 0 0 0.411799 0 0 IFNGR1 3459 broad.mit.edu 37 6 137519417 137519417 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:137519417G>A ENST00000367739.4 - 7 1342 c.1221C>T c.(1219-1221)caC>caT p.H407H IFNGR1_ENST00000543628.1_Silent_p.H379H NM_000416.2 NP_000407.1 P15260 INGR1_HUMAN interferon gamma receptor 1 407 regulation of interferon-gamma-mediated signaling pathway|response to virus integral to plasma membrane interferon-gamma receptor activity p.H407H(1) central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 18 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389) Interferon gamma-1b(DB00033) CATTTCTGGAGTGATCACTCT 0.398000 17 46 0 0 0.539581 0 0 FBXL7 23194 broad.mit.edu 37 5 15928376 15928376 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:15928376G>T ENST00000504595.1 + 3 986 c.505G>T c.(505-507)Gcc>Tcc p.A169S FBXL7_ENST00000329673.7_Missense_Mutation_p.A157S|FBXL7_ENST00000510662.1_Missense_Mutation_p.A122S NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 169 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.A169S(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CGTGGACCGCGCCCTCAAGGT 0.667000 5 8 1.26484e-09 1.53832e-09 0.278610 1 0 NOP56 10528 broad.mit.edu 37 20 2636664 2636664 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:2636664G>A ENST00000329276.5 + 8 1510 c.994G>A c.(994-996)Gaa>Aaa p.E332K NOP56_ENST00000492135.1_3'UTR NM_006392.3 NP_006383.2 O00567 NOP56_HUMAN NOP56 ribonucleoprotein 332 Nop. rRNA processing box C/D snoRNP complex|pre-snoRNP complex protein binding|snoRNA binding p.E332K(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 CCTTGGGGCTGAAAAGGCCCT 0.582000 30 40 0 0 0.750413 0 0 PRMT5 10419 broad.mit.edu 37 14 23397745 23397745 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:23397745C>A ENST00000324366.8 - 2 413 c.190G>T c.(190-192)Ggt>Tgt p.G64C PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000216350.8_Missense_Mutation_p.G47C|PRMT5_ENST00000538452.1_Intron|PRMT5_ENST00000397440.4_Missense_Mutation_p.G47C|PRMT5_ENST00000397441.2_Missense_Mutation_p.G47C|PRMT5_ENST00000553897.1_Missense_Mutation_p.G64C NM_006109.3 NP_006100.2 O14744 ANM5_HUMAN protein arginine methyltransferase 5 64 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.G64C(1)|p.G47C(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GTCTGGGGACCGGGCCGATTC 0.512000 36 67 9.62906e-15 1.29793e-14 0.819951 1 0 NPHP3 27031 broad.mit.edu 37 3 132423161 132423161 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:132423161C>A ENST00000326682.8 - 9 1481 c.1405G>T c.(1405-1407)Gat>Tat p.D469Y NPHP3_ENST00000337331.5_Missense_Mutation_p.D469Y Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 469 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding p.D469Y(1) NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGAATGGAATCCTCACTGCCC 0.393000 124 73 5.08508e-67 8.30941e-67 0.870114 1 0 VWA3B 200403 broad.mit.edu 37 2 98907069 98907069 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:98907069T>A ENST00000477737.1 + 23 3345 c.3141T>A c.(3139-3141)aaT>aaA p.N1047K VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1047 p.N1047K(1) NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GTGATGAAAATGGCTTTTATT 0.338000 8 9 0 0 0.307466 0 0 TUBB8 347688 broad.mit.edu 37 10 94648 94648 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:94648G>A ENST00000309812.4 - 3 246 c.184C>T c.(184-186)Cgc>Tgc p.R62C TUBB8_ENST00000447903.2_5'UTR|TUBB8_ENST00000332708.5_Silent_p.P25P|TUBB8_ENST00000413237.3_5'UTR NM_177987.2 NP_817124.1 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 62 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity p.R62C(1) NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AGCACAGCGCGGGGCACGTAC 0.697000 13 29 0 0 0.479597 0 0 WIPI1 55062 broad.mit.edu 37 17 66425071 66425071 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:66425071C>G ENST00000262139.5 - 10 971 c.972G>C c.(970-972)caG>caC p.Q324H WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Missense_Mutation_p.Q242H NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 324 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding p.Q324H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GTGGCAACTTCTGGATCCTAA 0.493000 14 28 0 0 0.457914 0 0 ADH1C 126 broad.mit.edu 37 4 100264040 100264040 + RNA SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:100264040T>C ENST00000515683.1 - 0 1091 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) GGGTTTCTTGTAGTCTTGAGG 0.468000 93 355 0 0 0.870114 0 0 CNGA4 1262 broad.mit.edu 37 11 6265580 6265580 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:6265580G>T ENST00000379936.2 + 6 1784 c.1669G>T c.(1669-1671)Gga>Tga p.G557* NM_001037329.3 NP_001032406.1 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 557 response to stimulus|sensory perception of smell cAMP binding p.G557*(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCTGAGGAGGGAACTTCCAA 0.602000 5 8 0.014758 0.0149886 0.184627 1 0 ISLR2 57611 broad.mit.edu 37 15 74426316 74426316 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:74426316C>G ENST00000361742.3 + 4 1990 c.1221C>G c.(1219-1221)agC>agG p.S407R ISLR2_ENST00000565540.1_Missense_Mutation_p.S407R|ISLR2_ENST00000453268.2_Missense_Mutation_p.S407R|ISLR2_ENST00000445793.1_Missense_Mutation_p.S407R|ISLR2_ENST00000419208.1_Missense_Mutation_p.S407R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000435464.1_Missense_Mutation_p.S407R|ISLR2_ENST00000565159.1_Missense_Mutation_p.S407R NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 407 positive regulation of axon extension cell surface|integral to membrane|plasma membrane p.S407R(1) breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GGGGCAACAGCGTCCTGCCTT 0.667000 7 2 0 0 0.248553 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091649 16091649 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:16091649G>A ENST00000375766.3 + 3 811 c.171G>A c.(169-171)gcG>gcA p.A57A FBLIM1_ENST00000332305.5_Silent_p.A57A|FBLIM1_ENST00000400773.1_Silent_p.A57A|FBLIM1_ENST00000375771.1_Silent_p.A57A|FBLIM1_ENST00000441801.2_Silent_p.A57A NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 57 Filamin-binding.|Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding p.A57A(1) large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CTGGCTTGGCGGGGAGGCCCA 0.672000 14 22 0 0 0.575678 0 0 SIX6 4990 broad.mit.edu 37 14 60976401 60976401 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:60976401C>A ENST00000327720.5 + 1 733 c.285C>A c.(283-285)caC>caA p.H95Q NM_007374.2 NP_031400.2 O95475 SIX6_HUMAN SIX homeobox 6 95 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H95Q(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2) 11 OV - Ovarian serous cystadenocarcinoma(108;0.088) TTGAAGCACACTACCAGGAGG 0.582000 10 18 3.86212e-05 4.1532e-05 0.361761 1 0 AHNAK 79026 broad.mit.edu 37 11 62293042 62293042 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:62293042G>T ENST00000378024.4 - 5 9121 c.8847C>A c.(8845-8847)ccC>ccA p.P2949P AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2949 nervous system development nucleus protein binding p.P2949P(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTTGAACTTGGGCCCTTTCA 0.502000 44 179 1.00953e-15 1.37663e-15 0.864702 1 0 ZNF207 7756 broad.mit.edu 37 17 30696361 30696361 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:30696361G>T ENST00000394670.4 + 11 1381 c.1212G>T c.(1210-1212)cgG>cgT p.R404R ZNF207_ENST00000394673.2_Silent_p.R373R|ZNF207_ENST00000342555.6_Silent_p.R407R|ZNF207_ENST00000341711.6_Silent_p.R305R|ZNF207_ENST00000321233.6_Silent_p.R388R|ZNF207_ENST00000577908.1_Silent_p.R404R NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 388 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R388R(1) breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) ATCTTCCTCGGCCAGGACAGG 0.512000 39 41 3.21399e-22 4.77205e-22 0.804634 1 0 REG3G 130120 broad.mit.edu 37 2 79253230 79253230 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:79253230C>A ENST00000272324.5 + 2 195 c.11C>A c.(10-12)cCc>cAc p.P4H REG3G_ENST00000409471.1_Missense_Mutation_p.P4H|REG3G_ENST00000393897.2_Missense_Mutation_p.P4H NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 4 acute-phase response extracellular region sugar binding p.P4H(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 ATGCTGCCTCCCATGGCCCTG 0.537000 24 20 1.66031e-10 2.0405e-10 0.667858 1 0 PROCA1 147011 broad.mit.edu 37 17 27030878 27030878 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:27030878T>C ENST00000301039.2 - 4 902 c.709A>G c.(709-711)Act>Gct p.T237A PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.T239A NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 265 Lys-rich. lipid catabolic process calcium ion binding|phospholipase A2 activity p.T237A(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) TTCTTCTTAGTCAACTGGCCT 0.483000 10 96 0 0 0.335167 0 0 GRM1 2911 broad.mit.edu 37 6 146720526 146720526 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:146720526C>T ENST00000392299.2 + 8 2821 c.2351C>T c.(2350-2352)gCc>gTc p.A784V GRM1_ENST00000361719.2_Missense_Mutation_p.A784V|GRM1_ENST00000282753.1_Missense_Mutation_p.A784V|GRM1_ENST00000507907.1_Missense_Mutation_p.A784V|GRM1_ENST00000355289.4_Missense_Mutation_p.A784V|GRM1_ENST00000492807.2_Missense_Mutation_p.A784V Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 784 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.A784V(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTCAACGAGGCCAAATATATC 0.498000 20 61 0 0 0.624587 0 0 RASSF2 9770 broad.mit.edu 37 20 4771142 4771142 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:4771142G>C ENST00000379400.3 - 7 687 c.492C>G c.(490-492)atC>atG p.I164M RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.I164M NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 164 cell cycle|signal transduction nucleus protein binding p.I164M(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 GGTGGCGTCTGATTCGCCGCT 0.607000 11 44 0 0 0.457914 0 0 PTGDR 5729 broad.mit.edu 37 14 52735003 52735003 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:52735003C>A ENST00000306051.2 + 1 573 c.471C>A c.(469-471)agC>agA p.S157R PTGDR_ENST00000553372.1_Missense_Mutation_p.S157R NM_000953.2 NP_000944.1 Q13258 PD2R_HUMAN prostaglandin D2 receptor (DP) 157 integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding p.S157S(1)|p.S157R(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CGGTGGTGAGCGCCTTCTCCC 0.637000 66 94 2.59843e-28 3.97927e-28 0.870114 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33658415 33658415 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:33658415T>A ENST00000504830.1 - 7 1399 c.1064A>T c.(1063-1065)aAt>aTt p.N355I ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.N355I NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 355 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.N355I(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCAGGGGCGATTGAAACCAGC 0.493000 HNSCC(64;0.19) 49 88 0 0 0.870114 0 0 DIP2A 23181 broad.mit.edu 37 21 47974083 47974083 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr21:47974083G>T ENST00000318711.7 + 26 3218 c.3033_splice c.e26-1 p.G1012_splice DIP2A_ENST00000400274.1_Splice_Site_p.G1007_splice|DIP2A_ENST00000427143.2_Splice_Site_p.G947_splice|DIP2A_ENST00000417564.2_Splice_Site_p.G1011_splice NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 1011 multicellular organismal development nucleus catalytic activity|transcription factor binding p.G1011V(1)|p.G1012V(1)|p.G947V(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CTTTCCTAGGGCACCGTCACA 0.582000 14 6 9.31168e-06 1.01819e-05 0.435327 1 0 TSHZ3 57616 broad.mit.edu 37 19 31768533 31768533 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:31768533C>G ENST00000240587.4 - 2 2493 c.2166G>C c.(2164-2166)ttG>ttC p.L722F NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 722 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L539F(1)|p.L722F(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GCAGGGCGCTCAAAGGGTTAA 0.577000 13 33 0 0 0.457914 0 0 FAM71F1 84691 broad.mit.edu 37 7 128357051 128357051 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:128357051G>T ENST00000315184.5 + 2 487 c.434_splice c.e2+1 p.R145_splice FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Splice_Site_p.E66_splice NM_032599.2 NP_115988.1 Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 145 p.R145M(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 TTCCTGAAGAGGTGAGCAATG 0.517000 6 16 0.00116845 0.00122061 0.217242 1 0 THBS2 7058 broad.mit.edu 37 6 169637775 169637775 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:169637775G>A ENST00000366787.3 - 9 1494 c.1245C>T c.(1243-1245)tgC>tgT p.C415C XXyac-YX65C7_A.2_ENST00000444188.1_RNA NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 415 TSP type-1 1. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.C415C(1) NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) AGGGCCCCAAGCAGGTGTTGC 0.667000 15 35 0 0 0.520397 0 0 SP140L 93349 broad.mit.edu 37 2 231235658 231235658 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:231235658A>T ENST00000243810.6 + 6 559 c.559A>T c.(559-561)Agt>Tgt p.S187C SP140L_ENST00000415673.2_Missense_Mutation_p.S187C|SP140L_ENST00000458341.1_Missense_Mutation_p.S100C|SP140L_ENST00000396563.4_Missense_Mutation_p.S187C|SP140L_ENST00000444636.1_Missense_Mutation_p.S187C Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 187 nucleus DNA binding|metal ion binding p.S187C(2) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAGGAAGGAAAGTGACCAAGC 0.572000 11 14 0 0 0.361761 0 0 CD38 952 broad.mit.edu 37 4 15835864 15835864 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:15835864A>G ENST00000226279.2 + 4 661 c.524A>G c.(523-525)gAc>gGc p.D175G NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 175 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity p.D175G(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TCTTGCCCAGACTGGAGAAAG 0.403000 21 49 0 0 0.592651 0 0 HCK 3055 broad.mit.edu 37 20 30686834 30686834 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:30686834C>A ENST00000534862.1 + 13 1577 c.1214C>A c.(1213-1215)gCt>gAt p.A405D HCK_ENST00000375862.2_Missense_Mutation_p.A424D|HCK_ENST00000520553.1_Missense_Mutation_p.A404D|HCK_ENST00000518730.1_Missense_Mutation_p.A403D|HCK_ENST00000375852.2_Missense_Mutation_p.A425D|HCK_ENST00000538448.1_Missense_Mutation_p.A404D NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 425 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A404D(1)|p.A425D(1) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AAGTGGACAGCTCCTGAAGCC 0.567000 33 121 4.34311e-12 5.53533e-12 0.779181 1 0 MKNK1 8569 broad.mit.edu 37 1 47024441 47024441 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:47024441C>G ENST00000371946.4 - 14 1367 c.1204G>C c.(1204-1206)Gca>Cca p.A402P MKNK1_ENST00000428112.2_Missense_Mutation_p.R346P|MKNK1_ENST00000341183.5_Missense_Mutation_p.R346P|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.A266P|MKNK1_ENST00000371945.4_Missense_Mutation_p.A361P NM_003684.5 NP_003675.2 Q9BUB5 MKNK1_HUMAN MAP kinase interacting serine/threonine kinase 1 402 intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.A402P(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 13 Acute lymphoblastic leukemia(166;0.155) GCCTCAGCTGCGAAGAGCGTC 0.592000 15 31 0 0 0.500413 0 0 SIX4 51804 broad.mit.edu 37 14 61180536 61180536 + Silent SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:61180536T>A ENST00000216513.4 - 3 1994 c.1935A>T c.(1933-1935)gcA>gcT p.A645A NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 645 nucleus p.A645A(1) breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) TTGCCACCGGTGCAGACATTG 0.448000 20 21 0 0 0.592651 0 0 PCDH8 5100 broad.mit.edu 37 13 53420356 53420356 + Missense_Mutation SNP A A C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:53420356A>C ENST00000377942.3 - 1 2419 c.2216T>G c.(2215-2217)gTg>gGg p.V739G PCDH8_ENST00000338862.4_Missense_Mutation_p.V739G NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 739 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.V739G(3) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CGACCCGGACACCCCGAGCCG 0.711000 7 45 0 0 0.769981 0 0 ZNF334 55713 broad.mit.edu 37 20 45131272 45131272 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:45131272G>T ENST00000457685.2 - 6 1915 c.592C>A c.(592-594)Cca>Aca p.P198T ZNF334_ENST00000347606.4_Missense_Mutation_p.P236T|ZNF334_ENST00000593880.1_Missense_Mutation_p.P259T Q9HCZ1 ZN334_HUMAN zinc finger protein 334 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P236T(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATTCATTTGGTTTCCTTTCA 0.368000 31 91 6.00712e-18 8.50888e-18 0.760397 1 0 E2F7 144455 broad.mit.edu 37 12 77423929 77423929 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:77423929C>T ENST00000322886.7 - 10 1801 c.1566G>A c.(1564-1566)gtG>gtA p.V522V E2F7_ENST00000416496.2_Silent_p.V522V NM_203394.2 NP_976328.2 Q96AV8 E2F7_HUMAN E2F transcription factor 7 522 cell cycle transcription factor complex DNA binding|identical protein binding p.V522V(2) central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2) 42 GTGAGACATCCACTTGTCCAT 0.522000 56 21 0 0 0.870114 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325909 79325909 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:79325909G>C ENST00000428286.1 - 8 1404 c.204C>G c.(202-204)gaC>gaG p.D68E PRUNE2_ENST00000376718.3_Missense_Mutation_p.D427E Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 427 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity p.D427E(1) endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCAGTCCGCTGTCTGGGCTAA 0.542000 8 15 0 0 0.307466 0 0 DPEP3 64180 broad.mit.edu 37 16 68014020 68014020 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:68014020C>T ENST00000268793.4 - 1 712 c.339G>A c.(337-339)atG>atA p.M113I DPEP3_ENST00000574342.1_5'UTR NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 88 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity p.M113I(1) breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GGAAACTCCGCATCAGGGCCT 0.652000 17 9 0 0 0.539581 0 0 MYO18A 399687 broad.mit.edu 37 17 27493223 27493223 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:27493223C>T ENST00000527372.1 - 2 916 c.736G>A c.(736-738)Gag>Aag p.E246K MYO18A_ENST00000533112.1_Missense_Mutation_p.E246K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E246K|MYO18A_ENST00000531253.1_Missense_Mutation_p.E246K NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 246 PDZ. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity p.E246K(2) NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) GCCTGGCCCTCGGGGCCCCGA 0.677000 32 71 0 0 0.779181 0 0 SYTL5 94122 broad.mit.edu 37 X 37961594 37961594 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:37961594G>T ENST00000357972.5 + 10 1608 c.e10-1 SYTL5_ENST00000297875.2_Splice_Site|SYTL5_ENST00000456733.2_Splice_Site|TM4SF2_ENST00000465127.1_Intron Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 intracellular protein transport membrane metal ion binding|Rab GTPase binding p.?(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 TTCTTTTTTAGGACTCCTTGG 0.383000 19 9 0.000132079 0.000141513 0.575678 1 0 SGOL1 151648 broad.mit.edu 37 3 20216036 20216036 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:20216036G>C ENST00000412997.1 - 6 1338 c.987C>G c.(985-987)gtC>gtG p.V329V SGOL1_ENST00000412868.1_Silent_p.V329V|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000263753.4_Silent_p.V329V|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.V329V|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 329 attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding p.V329V(1) kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 CATTGGAACTGACAGATTTGT 0.323000 12 46 0 0 0.411799 0 0 PROM1 8842 broad.mit.edu 37 4 16014962 16014962 + Splice_Site SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:16014962C>A ENST00000505450.1 - 10 1663 c.e10-1 PROM1_ENST00000447510.2_Splice_Site|PROM1_ENST00000510224.1_Splice_Site|PROM1_ENST00000508167.1_Splice_Site|PROM1_ENST00000539194.1_Splice_Site|PROM1_ENST00000540805.1_Splice_Site|PROM1_ENST00000543373.1_Splice_Site NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding p.?(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 ATTGATAGCCCTGAAAAATAT 0.383000 32 33 9.93527e-08 1.13963e-07 0.769981 1 0 ADAMTS17 170691 broad.mit.edu 37 15 100636612 100636612 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:100636612C>A ENST00000268070.4 - 15 2191 c.2086G>T c.(2086-2088)Ggc>Tgc p.G696C NM_139057.2 NP_620688.2 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 17 696 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G696C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CAGGTCTTGCCGTCCCCGCTG 0.587000 83 43 1.3515e-34 2.12534e-34 0.870114 1 0 FLG 2312 broad.mit.edu 37 1 152284648 152284648 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:152284648C>A ENST00000368799.1 - 3 2749 c.2714G>T c.(2713-2715)gGc>gTc p.G905V FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 905 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G905V(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGCCTGGAGCCGTCTCTTGA 0.562000 Ichthyosis 195 302 6.86035e-81 1.1337e-80 0.870114 1 0 PYGL 5836 broad.mit.edu 37 14 51378535 51378535 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:51378535C>A ENST00000216392.7 - 16 2214 c.1882G>T c.(1882-1884)Gca>Tca p.A628S PYGL_ENST00000544180.2_Missense_Mutation_p.A594S|PYGL_ENST00000532462.1_Missense_Mutation_p.A628S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 628 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding p.A628S(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ACCACATCTGCCACTGAAGTG 0.453000 33 72 1.30998e-17 1.84216e-17 0.812448 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121674370 121674370 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:121674370C>G ENST00000393386.2 + 17 5633 c.5222C>G c.(5221-5223)aCa>aGa p.T1741R PTPRZ1_ENST00000449182.1_Missense_Mutation_p.T874R NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1741 Tyrosine-protein phosphatase 1. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.A1741G(1)|p.T1741R(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTAGGTATTACAGCAGACAGC 0.343000 15 34 0 0 0.500413 0 0 GHRHR 2692 broad.mit.edu 37 7 31013715 31013715 + Nonsense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:31013715C>G ENST00000409904.3 + 4 779 c.521C>G c.(520-522)tCa>tGa p.S174* GHRHR_ENST00000326139.2_Nonsense_Mutation_p.S238*|GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409316.1_Intron Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 238 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding p.S238*(1) biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) TCCCCCAGCTCAAGGAGAGCC 0.632000 13 156 0 0 0.411799 0 0 NADK2 133686 broad.mit.edu 37 5 36201245 36201245 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:36201245C>A ENST00000397338.1 - 9 707 c.486G>T c.(484-486)agG>agT p.R162S NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000506945.1_Missense_Mutation_p.R184S|NADK2_ENST00000381937.4_Missense_Mutation_p.R325S|NADK2_ENST00000282512.3_Missense_Mutation_p.R162S|NADK2_ENST00000514504.1_Missense_Mutation_p.R293S NAD kinase 2, mitochondrial p.R325S(1)|p.R162S(1) GAGTTGCAACCCTGTTAATAT 0.338000 18 107 8.28177e-16 1.13197e-15 0.557998 1 0 OR4A15 81328 broad.mit.edu 37 11 55135422 55135422 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:55135422C>A ENST00000314706.3 + 1 63 c.63C>A c.(61-63)caC>caA p.H21Q NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H21Q(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 GGCTCCGACACCTGAGTCCAA 0.418000 9 28 7.48243e-07 8.43395e-07 0.335167 1 0 KIAA1109 84162 broad.mit.edu 37 4 123255688 123255688 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:123255688C>T ENST00000264501.4 + 69 12209 c.11836C>T c.(11836-11838)Cct>Tct p.P3946S KIAA1109_ENST00000388738.3_Missense_Mutation_p.P3946S Q2LD37 K1109_HUMAN KIAA1109 3946 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.P3946S(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 CCAGCCCCCACCTATTCCTGC 0.393000 18 58 0 0 0.592651 0 0 PASK 23178 broad.mit.edu 37 2 242065726 242065726 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:242065726G>A ENST00000403638.3 - 10 2695 c.2604C>T c.(2602-2604)aaC>aaT p.N868N PASK_ENST00000544142.1_Silent_p.N682N|PASK_ENST00000405260.1_Silent_p.N868N|PASK_ENST00000539818.1_Silent_p.N652N|PASK_ENST00000234040.4_Silent_p.N868N|PASK_ENST00000358649.4_Silent_p.N868N NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 868 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity p.N868N(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TGACCTGGACGTTCAGCCTTG 0.627000 29 85 0 0 0.750413 0 0 SGIP1 84251 broad.mit.edu 37 1 67147825 67147825 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:67147825C>A ENST00000371037.4 + 15 1165 c.1088C>A c.(1087-1089)cCt>cAt p.P363H SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P367H NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 363 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding p.P363H(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCCCCAGGGCCTCCTGGGCCT 0.562000 66 40 1.79293e-35 2.85018e-35 0.870114 1 0 ABCC11 85320 broad.mit.edu 37 16 48249115 48249115 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:48249115G>A ENST00000394747.1 - 7 1441 c.1092C>T c.(1090-1092)atC>atT p.I364I ABCC11_ENST00000537808.1_Silent_p.I364I|ABCC11_ENST00000394748.1_Silent_p.I364I|ABCC11_ENST00000356608.2_Silent_p.I364I|ABCC11_ENST00000353782.5_Silent_p.I364I NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 364 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.I364I(1) breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TACCTTCAATGATTTTTGCAA 0.443000 20 78 0 0 0.592651 0 0 DDX23 9416 broad.mit.edu 37 12 49231325 49231325 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:49231325C>T ENST00000308025.3 - 7 814 c.735G>A c.(733-735)aaG>aaA p.K245K DDX23_ENST00000553182.1_Intron NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 245 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.K245K(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CATGCAGTTCCTTGCTCTTAT 0.512000 35 66 0 0 0.779181 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369467 86369467 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:86369467G>C ENST00000400286.2 - 2 1775 c.1177C>G c.(1177-1179)Cac>Gac p.H393D NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 393 integral to membrane p.H393D(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTTCCCAAGTGAAGCATTTCC 0.363000 23 25 0 0 0.624587 0 0 ELANE 1991 broad.mit.edu 37 19 855664 855664 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:855664G>T ENST00000590230.1 + 5 608 c.467G>T c.(466-468)tGg>tTg p.W156L ELANE_ENST00000263621.1_Missense_Mutation_p.W156L P08246 ELNE_HUMAN elastase, neutrophil expressed 156 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding p.W156L(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GCCATGGGCTGGGGCCTTCTG 0.687000 56 16 3.21867e-24 4.81745e-24 0.870114 1 0 TLL1 7092 broad.mit.edu 37 4 166976321 166976321 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:166976321G>A ENST00000061240.2 + 13 2265 c.1618G>A c.(1618-1620)Gac>Aac p.D540N TLL1_ENST00000507499.1_Missense_Mutation_p.D563N NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 540 CUB 2. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.D540N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTGTGGTTATGACAAACCTGA 0.398000 23 73 0 0 0.639603 0 0 PPP1R36 145376 broad.mit.edu 37 14 65054946 65054946 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:65054946G>T ENST00000298705.1 + 11 1111 c.1015G>T c.(1015-1017)Gta>Tta p.V339L RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 339 p.V339L(1)|p.V339I(1) GTATCATCAAGTAGACGTCAG 0.458000 36 68 2.87052e-16 3.95119e-16 0.812448 1 0 C8orf22 492307 broad.mit.edu 37 8 49986681 49986681 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:49986681A>G ENST00000303202.8 + 3 292 c.119A>G c.(118-120)gAc>gGc p.D40G C8orf22_ENST00000522267.1_Missense_Mutation_p.D40G|C8orf22_ENST00000517663.1_Missense_Mutation_p.D40G|C8orf22_ENST00000399653.4_Missense_Mutation_p.D40G NM_001256598.1 NP_001243527.1 Q8WWR9 PDPFL_HUMAN chromosome 8 open reading frame 22 40 p.D40G(1) large_intestine(1)|lung(7)|prostate(1) 9 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) ATAGATGACGACAAACCACAG 0.294000 9 31 0 0 0.335167 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 35 0 0 0.115264 0 0 FSTL5 56884 broad.mit.edu 37 4 162841740 162841740 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:162841740G>A ENST00000306100.5 - 4 661 c.225C>T c.(223-225)caC>caT p.H75H FSTL5_ENST00000427802.2_Silent_p.H74H|FSTL5_ENST00000379164.4_Silent_p.H74H|FSTL5_ENST00000536695.1_Silent_p.H74H NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 75 extracellular region calcium ion binding p.H75H(2) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TGGTAACACAGTGTCTTCCCA 0.408000 9 29 0 0 0.361761 0 0 CRYBA2 1412 broad.mit.edu 37 2 219856956 219856956 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:219856956G>A ENST00000295728.2 - 2 407 c.171C>T c.(169-171)gcC>gcT p.A57A CRYBA2_ENST00000392096.2_Silent_p.A57A NM_057093.1 NP_476434.1 P53672 CRBA2_HUMAN crystallin, beta A2 57 Beta/gamma crystallin 'Greek key' 2. structural constituent of eye lens p.A57A(1) endometrium(1)|lung(3)|prostate(1) 5 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGTACTCAAAGGCCACCCAAC 0.592000 25 19 0 0 0.681144 0 0 EVX2 344191 broad.mit.edu 37 2 176948269 176948269 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:176948269A>G ENST00000308618.4 - 1 372 c.236T>C c.(235-237)cTg>cCg p.L79P NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 79 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L79P(1) kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGTGTGCTGCAGGTTGAACAA 0.647000 10 39 0 0 0.361761 0 0 NAALADL1 10004 broad.mit.edu 37 11 64815849 64815849 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:64815849G>T ENST00000358658.3 - 9 1234 c.1207C>A c.(1207-1209)Cgt>Agt p.R403S NAALADL1_ENST00000340252.4_Missense_Mutation_p.R454S|NAALADL1_ENST00000355369.2_Missense_Mutation_p.R403S|NAALADL1_ENST00000355721.3_Missense_Mutation_p.R362S|NAALADL1_ENST00000356632.3_Missense_Mutation_p.R368S|NAALADL1_ENST00000526799.1_5'UTR|NAALADL1_ENST00000339885.2_Missense_Mutation_p.R403S|NAALADL1_ENST00000528884.1_5'UTR NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 403 NAALADase. proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity p.R403S(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CTGCGAGGACGCCAGGTGCCT 0.602000 11 63 0.000673444 0.000707298 0.361761 1 0 PABPC5 140886 broad.mit.edu 37 X 90691644 90691644 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:90691644A>T ENST00000312600.3 + 2 1282 c.1068A>T c.(1066-1068)aaA>aaT p.K356N PABPC5_ENST00000373105.1_Missense_Mutation_p.K192N NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 356 RRM 4. cytoplasm nucleotide binding|RNA binding p.K356N(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AGGCTACCAAAGCAGTGGATG 0.527000 31 4 0 0 0.760397 0 0 CLDN12 9069 broad.mit.edu 37 7 90042182 90042182 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:90042182C>T ENST00000535571.1 + 2 501 c.192C>T c.(190-192)agC>agT p.S64S CLDN12_ENST00000287916.4_Silent_p.S64S|CLDN12_ENST00000394605.2_Silent_p.S64S NM_001185072.2 NP_001172001.1 P56749 CLD12_HUMAN claudin 12 64 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.S64S(1) breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2) 15 ATGACGGGAGCAGTGACTGCC 0.512000 56 50 0 0 0.870114 0 0 LRP1 4035 broad.mit.edu 37 12 57569264 57569264 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:57569264G>A ENST00000243077.3 + 23 4035 c.3569G>A c.(3568-3570)gGt>gAt p.G1190D NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1190 EGF-like 5. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.G1190D(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTGAATAACGGTGGCTGCAGC 0.627000 OREG0021937 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 13 0 0 0.760397 0 0 KDM6A 7403 broad.mit.edu 37 X 44928907 44928907 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:44928907C>T ENST00000377967.4 + 17 2048 c.2007C>T c.(2005-2007)ctC>ctT p.L669L KDM6A_ENST00000382899.4_Silent_p.L676L|KDM6A_ENST00000543216.1_Silent_p.L590L|KDM6A_ENST00000536777.1_Silent_p.L624L NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 669 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.L669L(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CCCAGCATCTCCAGGCAGCTG 0.512000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 20 4 0 0 0.592651 0 0 PAX4 5078 broad.mit.edu 37 7 127255536 127255536 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:127255536G>T ENST00000341640.2 - 1 244 c.39C>A c.(37-39)ccC>ccA p.P13P PAX4_ENST00000338516.3_Silent_p.P21P|PAX4_ENST00000378740.2_Silent_p.P13P|PAX4_ENST00000463946.1_5'UTR NM_006193.2 NP_006184.2 O43316 PAX4_HUMAN paired box 4 21 Paired. cell differentiation|endocrine pancreas development|organ morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P13P(1) cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CCAGAGGCAGGGGCCGGCCAT 0.602000 35 62 4.10981e-09 4.91665e-09 0.812448 1 0 RYR1 6261 broad.mit.edu 37 19 38995479 38995479 + Nonsense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:38995479C>G ENST00000355481.4 + 51 8290 c.8159C>G c.(8158-8160)tCa>tGa p.S2720* RYR1_ENST00000359596.3_Nonsense_Mutation_p.S2720*|RYR1_ENST00000360985.3_Nonsense_Mutation_p.S2720* NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2720 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.S2720*(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCTCATACTCATCTAAGGCA 0.582000 14 21 0 0 0.500413 0 0 ANKRD29 147463 broad.mit.edu 37 18 21229076 21229076 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:21229076C>A ENST00000592179.1 - 2 257 c.103G>T c.(103-105)Ggc>Tgc p.G35C ANKRD29_ENST00000284207.7_Missense_Mutation_p.G35C|ANKRD29_ENST00000322980.9_Missense_Mutation_p.G35C NM_173505.2 NP_775776.2 Q8N6D5 ANR29_HUMAN ankyrin repeat domain 29 35 p.G35C(1) breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1) 13 all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127) TCCACCCGGCCGCTGTTCAAC 0.567000 16 33 8.00594e-06 8.77055e-06 0.557998 1 0 NLRP3 114548 broad.mit.edu 37 1 247587935 247587935 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:247587935G>T ENST00000366497.2 + 4 1970 c.1190G>T c.(1189-1191)aGt>aTt p.S397I NLRP3_ENST00000366496.2_Missense_Mutation_p.S397I|NLRP3_ENST00000391827.2_Missense_Mutation_p.S397I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.S397I|NLRP3_ENST00000336119.3_Missense_Mutation_p.S397I|NLRP3_ENST00000391828.3_Missense_Mutation_p.S397I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 397 NACHT. 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 p.S397I(1) 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) GCAGCCTTCAGTCTGATTCAG 0.537000 30 29 3.1745e-13 4.17321e-13 0.729181 1 0 ANKRD53 79998 broad.mit.edu 37 2 71209077 71209077 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:71209077A>G ENST00000272421.6 + 4 895 c.629A>G c.(628-630)aAc>aGc p.N210S AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.N176S|ANKRD53_ENST00000360589.3_Missense_Mutation_p.N210S NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 210 p.N210S(2) endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 CAGACATGCAACGGCTCCACG 0.577000 21 52 0 0 0.667858 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046279 42046279 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:42046279C>G ENST00000372584.1 - 3 5204 c.4190G>C c.(4189-4191)aGa>aCa p.R1397T HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1397T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1397T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1397T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1397 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.R1397T(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) CACAGGCACTCTCAGGTATGG 0.522000 28 58 0 0 0.681144 0 0 SCN3A 6328 broad.mit.edu 37 2 165984542 165984542 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:165984542C>G ENST00000360093.3 - 18 3483 c.2992G>C c.(2992-2994)Gac>Cac p.D998H SCN3A_ENST00000283254.7_Missense_Mutation_p.D998H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D949H NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 998 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D949H(1)|p.D998H(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) ATTTCATTGTCATCATCAGTA 0.343000 16 46 0 0 0.557998 0 0 LMNB2 84823 broad.mit.edu 37 19 2434013 2434013 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:2434013C>A ENST00000325327.3 - 8 1355 c.1293G>T c.(1291-1293)ctG>ctT p.L431L LMNB2_ENST00000582871.1_Silent_p.L411L Q03252 LMNB2_HUMAN lamin B2 411 Tail. LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979). nuclear inner membrane structural molecule activity p.L411L(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 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) TACTGCGGCCCAGGCGCCCGG 0.716000 7 3 0.000157383 0.000167704 0.278610 1 0 PARL 55486 broad.mit.edu 37 3 183547410 183547410 + Silent SNP G G A rs17849792 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:183547410G>A ENST00000317096.4 - 10 1176 c.1116C>T c.(1114-1116)ccC>ccT p.P372P PARL_ENST00000435888.1_Silent_p.P288P|PARL_ENST00000311101.5_Silent_p.P322P NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 372 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity p.P372P(1) endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CTCCTTTTTTGGGGCCATTAG 0.483000 68 132 0 0 0.870114 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803425 142803425 + RNA SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:142803425C>G ENST00000423385.1 - 0 1540 gcctcatcctctcaagtagtt 0.348000 4 24 0 0 0.150653 0 0 BSCL2 26580 broad.mit.edu 37 11 62459865 62459865 + Silent SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:62459865C>G ENST00000433053.1 - 7 1402 c.846G>C c.(844-846)gcG>gcC p.A282A BSCL2_ENST00000403550.1_Silent_p.A218A|BSCL2_ENST00000405837.1_Silent_p.A282A|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Silent_p.A218A|BSCL2_ENST00000421906.1_Silent_p.A218A|BSCL2_ENST00000360796.5_Silent_p.A282A|BSCL2_ENST00000278893.7_Silent_p.A218A Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 218 cell death integral to endoplasmic reticulum membrane p.A218A(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 CAGTGAAGTGCGCGTGGATGC 0.597000 6 33 0 0 0.217242 0 0 LRRC10 376132 broad.mit.edu 37 12 70004114 70004114 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:70004114G>T ENST00000361484.3 - 1 828 c.505C>A c.(505-507)Ctg>Atg p.L169M NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 169 nucleus p.L169M(1) large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ATGGTCCTCAGCTCCTGGAGG 0.602000 27 22 1.75199e-13 2.31357e-13 0.717897 1 0 RIMS4 140730 broad.mit.edu 37 20 43399960 43399960 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:43399960G>A ENST00000372851.3 - 2 258 c.192C>T c.(190-192)caC>caT p.H64H RIMS4_ENST00000541604.2_Silent_p.H65H NM_001205317.1|NM_182970.3 NP_001192246.1|NP_892015.1 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 64 exocytosis|neurotransmitter transport cell junction|synapse p.H64H(1) central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) CAATGGACTCGTGGCTGGCCT 0.637000 39 42 0 0 0.804634 0 0 SLC4A9 83697 broad.mit.edu 37 5 139742515 139742515 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:139742515C>T ENST00000230993.6 + 7 933 c.898C>T c.(898-900)Cgt>Tgt p.R300C SLC4A9_ENST00000507527.1_Missense_Mutation_p.R300C|SLC4A9_ENST00000506757.2_Missense_Mutation_p.R276C|SLC4A9_ENST00000506545.1_Missense_Mutation_p.R276C|SLC4A9_ENST00000432095.2_Missense_Mutation_p.R276C NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 300 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity p.R300C(2)|p.R274C(1)|p.R274S(1)|p.R300S(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGTCAGTTCGTCGGGCCAG 0.542000 OREG0016461 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 22 49 0 0 0.654019 0 0 DNAH5 1767 broad.mit.edu 37 5 13766118 13766118 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:13766118C>T ENST00000265104.4 - 59 10172 c.10068G>A c.(10066-10068)ttG>ttA p.L3356L DNAH5_ENST00000504001.3_Intron NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3356 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.L3356L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGCAGTCATCAATTTTAAGG 0.443000 Kartagener syndrome 68 107 0 0 0.870114 0 0 MBD1 4152 broad.mit.edu 37 18 47802296 47802296 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:47802296C>A ENST00000591416.1 - 7 1003 c.572G>T c.(571-573)tGc>tTc p.C191F MBD1_ENST00000585595.1_Missense_Mutation_p.C191F|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000588937.1_Missense_Mutation_p.C191F|MBD1_ENST00000591535.1_Missense_Mutation_p.C191F|MBD1_ENST00000590208.1_Missense_Mutation_p.C191F|MBD1_ENST00000587605.1_Missense_Mutation_p.C191F|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.C191F|MBD1_ENST00000424334.2_Missense_Mutation_p.C217F|MBD1_ENST00000347968.3_Missense_Mutation_p.C191F|MBD1_ENST00000349085.2_Missense_Mutation_p.C191F|MBD1_ENST00000398488.1_Missense_Mutation_p.C191F|MBD1_ENST00000269468.5_Missense_Mutation_p.C191F|MBD1_ENST00000398493.1_Missense_Mutation_p.C191F|MBD1_ENST00000269471.5_Missense_Mutation_p.C191F|MBD1_ENST00000457839.2_Missense_Mutation_p.C191F|MBD1_ENST00000382948.5_Missense_Mutation_p.C191F|MBD1_ENST00000436910.1_Missense_Mutation_p.C191F|MBD1_ENST00000398495.2_Missense_Mutation_p.C191F Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 191 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.C191F(4) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GCAGGTGGAGCAGGCCCCACA 0.622000 18 16 3.32936e-07 3.77456e-07 0.539581 1 0 SLC24A5 283652 broad.mit.edu 37 15 48414089 48414089 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:48414089G>C ENST00000482911.2 + 2 198 c.157G>C c.(157-159)Gag>Cag p.E53Q SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000341459.3_Missense_Mutation_p.E53Q Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 53 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.E53K(1)|p.E53Q(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) TCCATCATCGGAGTTTCCCGA 0.423000 22 57 0 0 0.608945 0 0 MICAL2 9645 broad.mit.edu 37 11 12247751 12247751 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:12247751G>T ENST00000256194.4 + 14 2010 c.1722G>T c.(1720-1722)gtG>gtT p.V574V MICAL2_ENST00000379612.3_Silent_p.V574V|MICAL2_ENST00000527546.1_Silent_p.V574V|MICAL2_ENST00000537344.1_Silent_p.V574V|MICAL2_ENST00000342902.5_Silent_p.V574V NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 574 CH. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.V574V(1) breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATGATGCTGTGGAGAACAACC 0.522000 9 39 0.000274275 0.000290146 0.307466 1 0 CPNE5 57699 broad.mit.edu 37 6 36710126 36710126 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:36710126G>T ENST00000244751.2 - 21 2325 c.1701C>A c.(1699-1701)ccC>ccA p.P567P CPNE5_ENST00000393189.2_Silent_p.P275P|CPNE5_ENST00000459703.1_5'UTR NM_020939.1 NP_065990.1 Q9HCH3 CPNE5_HUMAN copine V 567 p.P567P(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CTGCGGGTGGGGGACGCGGGC 0.682000 49 22 3.39706e-21 4.99316e-21 0.870114 1 0 DGKI 9162 broad.mit.edu 37 7 137150727 137150727 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:137150727G>T ENST00000453654.1 - 27 2232 c.1693C>A c.(1693-1695)Cca>Aca p.P565T DGKI_ENST00000288490.5_Missense_Mutation_p.P855T|DGKI_ENST00000446122.1_Missense_Mutation_p.P837T|DGKI_ENST00000424189.2_Missense_Mutation_p.P868T O75912 DGKI_HUMAN diacylglycerol kinase, iota 855 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.P855T(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ACCATATCTGGGTCCAGAATA 0.498000 9 64 1.76689e-08 2.06314e-08 0.335167 1 0 DNAH1 25981 broad.mit.edu 37 3 52416461 52416461 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:52416461C>T ENST00000420323.2 + 50 8192 c.7931C>T c.(7930-7932)tCa>tTa p.S2644L NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2644 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.S2644L(2) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTCCTCTTCTCAGACACCCAG 0.587000 31 73 0 0 0.760397 0 0 WDR25 79446 broad.mit.edu 37 14 100996231 100996231 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:100996231G>T ENST00000335290.6 + 7 1714 c.1488G>T c.(1486-1488)cgG>cgT p.R496R WDR25_ENST00000554998.1_Silent_p.R496R|WDR25_ENST00000557502.1_3'UTR|WDR25_ENST00000402312.3_Silent_p.R496R|WDR25_ENST00000542471.2_Silent_p.R239R NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 496 p.R496R(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CCGATGGCCGGGTCCTGATGT 0.667000 16 41 5.35356e-11 6.64932e-11 0.639603 1 0 MUC7 4589 broad.mit.edu 37 4 71347026 71347026 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:71347026A>T ENST00000413702.1 + 4 853 c.565A>T c.(565-567)Aca>Tca p.T189S MUC7_ENST00000304887.5_Missense_Mutation_p.T189S|MUC7_ENST00000456088.1_Missense_Mutation_p.T189S NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 189 Thr-rich. extracellular region protein binding p.T189S(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCAGAGACCACAGCTGCCCC 0.587000 18 68 0 0 0.575678 0 0 FAM135B 51059 broad.mit.edu 37 8 139263227 139263227 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:139263227G>T ENST00000395297.1 - 6 569 c.399C>A c.(397-399)gtC>gtA p.V133V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 133 p.V133V(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTCGGCTGCTGACCATCGGTG 0.582000 HNSCC(54;0.14) 21 126 7.92952e-12 1.00406e-11 0.667858 1 0 ZNF521 25925 broad.mit.edu 37 18 22806774 22806774 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:22806774T>A ENST00000361524.3 - 4 1256 c.1108A>T c.(1108-1110)Atg>Ttg p.M370L ZNF521_ENST00000538137.2_Missense_Mutation_p.M370L|ZNF521_ENST00000584787.1_Missense_Mutation_p.M150L NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 370 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.M370L(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCTTCCACCATGGTTGAGCTG 0.557000 T PAX5 ALL 25 26 0 0 0.667858 0 0 OLAH 55301 broad.mit.edu 37 10 15103815 15103815 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:15103815C>G ENST00000378217.3 + 5 602 c.415C>G c.(415-417)Ctg>Gtg p.L139V OLAH_ENST00000378228.3_Missense_Mutation_p.L86V NM_018324.2 NP_060794.1 Q9NV23 SAST_HUMAN oleoyl-ACP hydrolase 86 fatty acid biosynthetic process myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity p.L139V(1) endometrium(2)|large_intestine(1)|lung(14)|stomach(1) 18 TGTTTGTGCTCTGCAGCCAGT 0.408000 28 115 0 0 0.740014 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996273 57996273 + Silent SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:57996273A>G ENST00000316770.2 - 1 117 c.75T>C c.(73-75)acT>acC p.T25T NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T25T(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CCTGGAATTCAGTGGCTGTGG 0.517000 25 80 0 0 0.667858 0 0 IL17RE 132014 broad.mit.edu 37 3 9956381 9956381 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:9956381G>T ENST00000295980.3 + 16 1484 c.1367G>T c.(1366-1368)gGg>gTg p.G456V IL17RE_ENST00000421412.1_Missense_Mutation_p.G489V|IL17RE_ENST00000383814.3_Missense_Mutation_p.G456V|IL17RE_ENST00000454190.2_Silent_p.G480G NM_153483.2 NP_705616.2 Q8NFR9 I17RE_HUMAN interleukin 17 receptor E 456 cytoplasm|extracellular region|integral to membrane receptor activity p.G456V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(96;5.34e-64) AGACACCTGGGGCTCTTGATC 0.607000 55 52 1.4709e-25 2.22921e-25 0.870114 1 0 CA3 761 broad.mit.edu 37 8 86354306 86354306 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:86354306G>A ENST00000285381.2 + 3 320 c.237G>A c.(235-237)ctG>ctA p.L79L RP11-317J10.2_ENST00000517697.1_RNA|RP11-317J10.2_ENST00000521761.1_RNA NM_005181.3 NP_005172.1 P07451 CAH3_HUMAN carbonic anhydrase III, muscle specific 79 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding p.L79L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TCACAGTGCTGAGAGGGGGTC 0.498000 16 79 0 0 0.557998 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573673 140573673 + Silent SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:140573673C>G ENST00000239446.4 + 1 1732 c.1548C>G c.(1546-1548)ctC>ctG p.L516L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 516 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.L516L(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTTCGCCCTCAGGTCGCTGG 0.706000 37 165 0 0 0.812448 0 0 ITPR2 3709 broad.mit.edu 37 12 26636704 26636704 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:26636704T>C ENST00000381340.3 - 42 6355 c.5939A>G c.(5938-5940)aAg>aGg p.K1980R NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 1980 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.K1980R(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CGCTACATTCTTCTCATTGAT 0.473000 43 128 0 0 0.870114 0 0 CCDC178 374864 broad.mit.edu 37 18 30803087 30803087 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:30803087C>T ENST00000383096.3 - 18 2097 c.1915G>A c.(1915-1917)Gca>Aca p.A639T CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.A639T|CCDC178_ENST00000579947.1_Missense_Mutation_p.A639T|CCDC178_ENST00000402325.1_Missense_Mutation_p.A639T|CCDC178_ENST00000583930.1_Missense_Mutation_p.A639T|CCDC178_ENST00000406524.2_Missense_Mutation_p.A639T|CCDC178_ENST00000579916.1_Intron coiled-coil domain containing 178 p.A639T(1) TCTATTAATGCATCAAGGGTT 0.269000 7 34 0 0 0.278610 0 0 CPA1 1357 broad.mit.edu 37 7 130023266 130023266 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:130023266G>C ENST00000011292.3 + 5 668 c.518G>C c.(517-519)tGg>tCg p.W173S CPA1_ENST00000484324.1_Missense_Mutation_p.W85S NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 173 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.W173S(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CCAGCCATCTGGATCGACACG 0.612000 10 23 0 0 0.361761 0 0 USH2A 7399 broad.mit.edu 37 1 216138678 216138678 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:216138678C>A ENST00000366943.2 - 37 7487 c.7101G>T c.(7099-7101)ggG>ggT p.G2367G USH2A_ENST00000307340.3_Silent_p.G2367G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2367 Fibronectin type-III 10. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G2367V(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CATAGAATATCCCAGTGAAAA 0.358000 HNSCC(13;0.011) 31 100 4.74835e-14 6.29884e-14 0.750413 1 0 UNC79 57578 broad.mit.edu 37 14 93962804 93962804 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:93962804G>T ENST00000553484.1 + 6 914 c.760G>T c.(760-762)Gtc>Ttc p.V254F UNC79_ENST00000555664.1_Missense_Mutation_p.V254F|UNC79_ENST00000256339.4_Missense_Mutation_p.V77F|UNC79_ENST00000393151.2_Missense_Mutation_p.V254F Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 254 integral to membrane p.V77F(1)|p.V254F(1) breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TAAACAAGAAGTCTGGAAAGT 0.289000 34 58 8.73648e-17 1.20824e-16 0.796494 1 0 FAP 2191 broad.mit.edu 37 2 163051221 163051221 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:163051221G>T ENST00000188790.4 - 17 1647 c.1440C>A c.(1438-1440)cgC>cgA p.R480R FAP_ENST00000443424.1_Silent_p.R455R NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 480 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity p.R480R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 CTTGATCAGTGCGTCCATCAT 0.448000 16 34 4.7546e-09 5.67641e-09 0.500413 1 0 QSER1 79832 broad.mit.edu 37 11 32956717 32956717 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:32956717A>T ENST00000399302.2 + 4 3861 c.3526A>T c.(3526-3528)Act>Tct p.T1176S QSER1_ENST00000527788.1_Missense_Mutation_p.T937S NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1176 p.T1176S(1) breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GCCTAACAGGACTAGACGGCC 0.483000 25 32 0 0 0.654019 0 0 HCN1 348980 broad.mit.edu 37 5 45262467 45262467 + Silent SNP C C T rs143994644 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:45262467C>T ENST00000303230.4 - 8 2286 c.2229G>A c.(2227-2229)ccG>ccA p.P743P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 743 Gln-rich. integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.P743P(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 gagtctgcggcggctgggact 0.637000 17 21 0 0 0.557998 0 0 NLRP14 338323 broad.mit.edu 37 11 7059877 7059877 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:7059877G>A ENST00000299481.4 + 2 406 c.60G>A c.(58-60)gaG>gaA p.E20E NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 20 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.E20E(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGTATTTGGAGGAGCTAAACA 0.413000 23 43 0 0 0.654019 0 0 DPP4 1803 broad.mit.edu 37 2 162875299 162875299 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:162875299A>T ENST00000360534.3 - 16 1920 c.1360T>A c.(1360-1362)Tgt>Agt p.C454S NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 454 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.C454S(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) TAGTACTGACACCTTTCCGGA 0.458000 25 68 0 0 0.706142 0 0 DIS3 22894 broad.mit.edu 37 13 73348154 73348154 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:73348154C>G ENST00000377767.4 - 7 1131 c.1031G>C c.(1030-1032)aGa>aCa p.R344T DIS3_ENST00000545453.1_Missense_Mutation_p.R182T|DIS3_ENST00000377780.4_Missense_Mutation_p.R314T NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 344 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.R344T(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCCTACAACTCTACCTGTAGG 0.333000 Multiple Myeloma(4;0.011) 20 56 0 0 0.575678 0 0 CARD6 84674 broad.mit.edu 37 5 40853546 40853546 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:40853546G>T ENST00000254691.5 + 3 2311 c.2112G>T c.(2110-2112)gaG>gaT p.E704D CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 704 apoptosis|regulation of apoptosis intracellular p.E704D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 CAATTCAAGAGCCTGGGACTC 0.483000 79 164 1.25742e-37 2.00981e-37 0.870114 1 0 NRXN1 9378 broad.mit.edu 37 2 50463964 50463964 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:50463964C>A ENST00000404971.1 - 19 4968 c.3629G>T c.(3628-3630)aGt>aTt p.S1210I NRXN1_ENST00000406859.3_Missense_Mutation_p.S1170I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1170I|NRXN1_ENST00000401710.1_Missense_Mutation_p.S188I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1162I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1170I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1162I|NRXN1_ENST00000342183.5_Missense_Mutation_p.S135I NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1170 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.S135I(1)|p.S1170I(1)|p.S1210I(1)|p.S1211I(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCTGAAGAACTGTCCACTCG 0.408000 13 30 0.000308642 0.000325913 0.479597 1 0 KCNH7 90134 broad.mit.edu 37 2 163693092 163693092 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:163693092C>G ENST00000332142.5 - 2 361 c.262G>C c.(262-264)Ggg>Cgg p.G88R KCNH7_ENST00000328032.4_Missense_Mutation_p.G88R NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 88 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.G88R(2) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TCTTCTGACCCCAGCAATGCC 0.448000 9 44 0 0 0.307466 0 0 FLNB 2317 broad.mit.edu 37 3 58135872 58135872 + Silent SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:58135872C>G ENST00000357272.4 + 38 6450 c.6285C>G c.(6283-6285)gtC>gtG p.V2095V FLNB_ENST00000429972.2_Silent_p.V2084V|FLNB_ENST00000419752.2_Silent_p.V1915V|FLNB_ENST00000493452.1_Silent_p.V1902V|FLNB_ENST00000490882.1_Silent_p.V2126V|FLNB_ENST00000358537.3_Silent_p.V2071V|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000295956.4_Silent_p.V2095V O75369 FLNB_HUMAN filamin B, beta 2095 Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding p.V2126V(1)|p.V2095V(1) NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGGGAAGAGTCAAAGAGAGCA 0.592000 34 83 0 0 0.804634 0 0 FAT4 79633 broad.mit.edu 37 4 126328197 126328197 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:126328197G>T ENST00000394329.3 + 3 5483 c.5470G>T c.(5470-5472)Gat>Tat p.D1824Y FAT4_ENST00000335110.5_Missense_Mutation_p.D122Y NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1824 Cadherin 17. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D1824Y(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCAGTCCTCGGATATGAGAAT 0.478000 36 112 6.97489e-18 9.85582e-18 0.804634 1 0 C9orf131 138724 broad.mit.edu 37 9 35045018 35045018 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:35045018C>A ENST00000312292.5 + 2 2439 c.2392C>A c.(2392-2394)Cct>Act p.P798T C9orf131_ENST00000421362.2_Missense_Mutation_p.P750T|C9orf131_ENST00000354479.5_Missense_Mutation_p.P725T NM_001040410.1|NM_203299.2 NP_001035500.1|NP_976044.2 Q5VYM1 CI131_HUMAN chromosome 9 open reading frame 131 798 p.P798T(1) cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1) 39 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) GCGGCAGAGCCCTGCCTCCAG 0.572000 180 69 2.59874e-77 4.28243e-77 0.870114 1 0 EPHB1 2047 broad.mit.edu 37 3 134670814 134670814 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:134670814G>T ENST00000398015.3 + 3 1095 c.725G>T c.(724-726)gGg>gTg p.G242V EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 242 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding p.G242V(2) NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TACTGCAACGGGGATGGGGAA 0.572000 71 35 3.05759e-45 4.95482e-45 0.870114 1 0 MAGEC3 139081 broad.mit.edu 37 X 140969218 140969218 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:140969218A>G ENST00000298296.1 + 4 545 c.545A>G c.(544-546)tAt>tGt p.Y182C MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000443323.2_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 182 p.Y182C(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TTGTTCACTTATACACTGGAT 0.448000 29 43 0 0 0.729181 0 0 NTNG2 84628 broad.mit.edu 37 9 135114645 135114645 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:135114645G>T ENST00000393229.3 + 6 1985 c.1209G>T c.(1207-1209)gaG>gaT p.E403D NTNG2_ENST00000360670.3_Missense_Mutation_p.E409D|NTNG2_ENST00000393228.4_Missense_Mutation_p.E395D NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 403 Laminin EGF-like 2. axonogenesis anchored to plasma membrane p.E403D(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TGGATGATGAGAACGTCTGCA 0.647000 10 32 1.08611e-07 1.24096e-07 0.387290 1 0 MYLIP 29116 broad.mit.edu 37 6 16130937 16130937 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:16130937G>T ENST00000356840.3 + 2 435 c.237G>T c.(235-237)aaG>aaT p.K79N MYLIP_ENST00000349606.4_Intron NM_013262.3 NP_037394.2 Q8WY64 MYLIP_HUMAN myosin regulatory light chain interacting protein 79 FERM. cellular component movement|nervous system development cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding p.K79N(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 28 Breast(50;0.0799)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.241) TTAGAGTCAAGTTCTTCGTGG 0.453000 14 59 2.32078e-09 2.79354e-09 0.479597 1 0 AADACL4 343066 broad.mit.edu 37 1 12726347 12726347 + Silent SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:12726347A>G ENST00000376221.1 + 4 825 c.825A>G c.(823-825)ccA>ccG p.P275P NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 275 integral to membrane carboxylesterase activity p.P275P(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) GTGTACCCCCAGACGTCTGGA 0.517000 37 76 0 0 0.827153 0 0 INSRR 3645 broad.mit.edu 37 1 156811945 156811945 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:156811945C>A ENST00000368195.3 - 19 3752 c.3356G>T c.(3355-3357)cGc>cTc p.R1119L NTRK1_ENST00000392302.2_Silent_p.R28R NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1119 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity p.R1119L(2)|p.R28R(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CATGCAGTTGCGGGCTGCTAG 0.562000 8 15 0.00829132 0.00853947 0.361761 1 0 BBS9 27241 broad.mit.edu 37 7 33427748 33427748 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:33427748T>A ENST00000242067.6 + 19 2628 c.2107T>A c.(2107-2109)Tac>Aac p.Y703N BBS9_ENST00000396127.2_Missense_Mutation_p.Y668N|BBS9_ENST00000354265.4_Missense_Mutation_p.Y668N|BBS9_ENST00000350941.3_Missense_Mutation_p.Y663N|BBS9_ENST00000355070.2_Missense_Mutation_p.Y698N NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 703 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.Y703N(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) AGATGGAACCTACAAGCAGGT 0.413000 Bardet-Biedl syndrome 45 156 0 0 0.870114 0 0 POLR3A 11128 broad.mit.edu 37 10 79777351 79777351 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:79777351C>G ENST00000372371.3 - 10 1550 c.1413G>C c.(1411-1413)ttG>ttC p.L471F POLR3A_ENST00000484760.1_5'UTR NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 471 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding p.L471F(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CCATAATGCTCAATTTGTGCA 0.438000 14 39 0 0 0.500413 0 0 TMEM131 23505 broad.mit.edu 37 2 98408868 98408868 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:98408868C>A ENST00000186436.5 - 31 4353 c.4125G>T c.(4123-4125)tcG>tcT p.S1375S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1375 integral to membrane p.S1375S(1)|p.S1262S(1) NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 TTGGCAATGGCGATGGAGGCT 0.502000 6 23 2.0095e-06 2.2349e-06 0.248553 1 0 OR1C1 26188 broad.mit.edu 37 1 247921054 247921054 + Nonsense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:247921054C>A ENST00000408896.2 - 1 928 c.655G>T c.(655-657)Gga>Tga p.G219* NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G219*(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGATAAGTCCATAAGATACG 0.483000 8 20 5.18039e-06 5.69648e-06 0.278610 1 0 ERMN 57471 broad.mit.edu 37 2 158178194 158178194 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:158178194C>T ENST00000410096.1 - 3 735 c.444G>A c.(442-444)aaG>aaA p.K148K ERMN_ENST00000420719.2_Silent_p.K128K|ERMN_ENST00000397283.2_Silent_p.K161K|ERMN_ENST00000535935.1_Silent_p.K42K NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 148 cytoplasm|cytoskeleton p.K161K(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 GACCTTTGTTCTTCCTGTCCT 0.453000 48 63 0 0 0.870114 0 0 CHD6 84181 broad.mit.edu 37 20 40081486 40081486 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:40081486T>A ENST00000373233.3 - 21 3394 c.3217A>T c.(3217-3219)Agc>Tgc p.S1073C CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1073 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding p.S1073C(1) breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TCTGAGTCGCTGTCTAACTCT 0.537000 17 54 0 0 0.539581 0 0 TDP1 55775 broad.mit.edu 37 14 90455297 90455297 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:90455297G>T ENST00000335725.4 + 11 1430 c.1180G>T c.(1180-1182)Gtc>Ttc p.V394F TDP1_ENST00000357382.3_Missense_Mutation_p.V155F|TDP1_ENST00000393454.2_Missense_Mutation_p.V394F|TDP1_ENST00000555880.1_Missense_Mutation_p.V394F|TDP1_ENST00000393452.3_Missense_Mutation_p.V394F NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 394 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding p.V394F(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GTCCTGGCCTGTCGTAGGTCA 0.443000 Repair of DNA-protein crosslinks 13 32 0.000151284 0.000161794 0.435327 1 0 PRKCZ 5590 broad.mit.edu 37 1 2077475 2077475 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:2077475A>G ENST00000400921.2 + 4 696 c.13A>G c.(13-15)Atg>Gtg p.M5V PRKCZ_ENST00000400920.1_Missense_Mutation_p.M5V|PRKCZ_ENST00000479263.1_3'UTR NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C, zeta 188 anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding p.M188V(2) breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) GGATTCTGTCATGCCTTCCCA 0.512000 16 47 0 0 0.520397 0 0 CDCA8 55143 broad.mit.edu 37 1 38168930 38168930 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:38168930C>T ENST00000373055.1 + 7 768 c.495C>T c.(493-495)agC>agT p.S165S CDCA8_ENST00000327331.2_Silent_p.S165S NM_001256875.1|NM_018101.3 NP_001243804.1|NP_060571.1 Q53HL2 BOREA_HUMAN cell division cycle associated 8 165 cell division|chromosome organization|mitotic metaphase|mitotic prometaphase chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle protein binding p.S165S(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTAGGTCAAGCCGTGCTAACA 0.542000 4 101 0 0 0.184627 0 0 ABCB11 8647 broad.mit.edu 37 2 169869897 169869897 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:169869897C>T ENST00000263817.6 - 5 398 c.274G>A c.(274-276)Gac>Aac p.D92N NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 92 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.D92N(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACGTCGTAGTCAATAAAAACA 0.423000 44 140 0 0 0.859065 0 0 MIR1185-1 100302157 broad.mit.edu 37 14 101509384 101509384 + RNA SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:101509384T>C ENST00000408598.1 + 0 71 NR_031575.1 GGGGAGACTCTTATTTGCGTA 0.502000 11 51 0 0 0.387290 0 0 KLK10 5655 broad.mit.edu 37 19 51522352 51522352 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:51522352G>C ENST00000309958.3 - 2 253 c.35C>G c.(34-36)tCt>tGt p.S12C KLK10_ENST00000358789.3_Missense_Mutation_p.S12C|KLK10_ENST00000391805.1_Missense_Mutation_p.S12C NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 12 cell cycle|proteolysis extracellular region serine-type endopeptidase activity p.S12C(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) CCGGGCGCCAGAGGCGGCGGA 0.697000 9 2 0 0 0.387290 0 0 HUWE1 10075 broad.mit.edu 37 X 53563173 53563173 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:53563173C>A ENST00000342160.3 - 79 12923 c.12466G>T c.(12466-12468)Ggt>Tgt p.G4156C HUWE1_ENST00000262854.6_Missense_Mutation_p.G4156C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4156 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.G4156C(1)|p.G4046C(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TAAACCAGACCTTGGTAGAAG 0.453000 31 4 2.68265e-12 3.44156e-12 0.769981 1 0 ZFP57 346171 broad.mit.edu 37 6 29641443 29641443 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:29641443C>A ENST00000376883.1 - 6 796 c.385G>T c.(385-387)Ggc>Tgc p.G129C ZFP57_ENST00000488757.1_Missense_Mutation_p.G149C|ZFP57_ENST00000376881.3_Missense_Mutation_p.G129C Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 78 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.G129C(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 GGGCACTGGCCGGCCCCTCTG 0.562000 72 28 6.20995e-33 9.66176e-33 0.870114 1 0 CDH6 1004 broad.mit.edu 37 5 31323173 31323173 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:31323173G>A ENST00000265071.2 + 12 2396 c.2131G>A c.(2131-2133)Gat>Aat p.D711N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 711 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.D711N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CGACAACACCGATGTCAGAGA 0.522000 9 31 0 0 0.307466 0 0 DARC 2532 broad.mit.edu 37 1 159176146 159176146 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:159176146T>A ENST00000537147.1 + 3 1760 c.917T>A c.(916-918)cTa>cAa p.L306Q DARC_ENST00000368122.2_Missense_Mutation_p.L306Q|DARC_ENST00000368121.2_Missense_Mutation_p.L308Q Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 306 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity p.L308Q(1) large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) CTCCTCGCCCTATTCTGCCAC 0.587000 144 228 0 0 0.870114 0 0 CXADR 1525 broad.mit.edu 37 21 18919473 18919473 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr21:18919473C>T ENST00000284878.7 + 2 920 c.172C>T c.(172-174)Ctg>Ttg p.L58L CXADR_ENST00000400166.1_Silent_p.L58L|CXADR_ENST00000306618.10_Silent_p.L58L|CXADR_ENST00000400165.1_Silent_p.L58L|CXADR_ENST00000356275.6_Silent_p.L58L|CXADR_ENST00000400169.1_Silent_p.L58L NM_001338.4 NP_001329.1 P78310 CXAR_HUMAN coxsackie virus and adenovirus receptor 58 Ig-like C2-type 1. blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction receptor activity p.L58L(1) endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2) 11 Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782) CATCGAGTGGCTGATATCACC 0.473000 16 33 0 0 0.500413 0 0 RYR2 6262 broad.mit.edu 37 1 237948014 237948014 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:237948014G>T ENST00000366574.2 + 90 13319 c.13002G>T c.(13000-13002)atG>atT p.M4334I RYR2_ENST00000542537.1_Missense_Mutation_p.M4318I|RYR2_ENST00000360064.6_Missense_Mutation_p.M4340I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4334 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.M4332I(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TAGCCAACATGCCAGACCCCA 0.542000 15 30 1.3612e-06 1.52549e-06 0.479597 1 0 ZC3H12B 340554 broad.mit.edu 37 X 64718908 64718908 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:64718908G>A ENST00000338957.4 + 3 845 c.778G>A c.(778-780)Gaa>Aaa p.E260K ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E249K NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 249 endonuclease activity|nucleic acid binding|zinc ion binding p.E110K(1)|p.E196K(1) breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACTGGAGAAGGAAAAGATTCT 0.393000 84 19 0 0 0.870114 0 0 PCDH9 5101 broad.mit.edu 37 13 67802318 67802318 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:67802318A>T ENST00000544246.1 - 2 946 c.255T>A c.(253-255)atT>atA p.I85I PCDH9_ENST00000328454.5_Silent_p.I85I|PCDH9_ENST00000377865.2_Silent_p.I85I|PCDH9_ENST00000456367.1_Silent_p.I85I|PCDH9_ENST00000377861.3_Silent_p.I85I NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 85 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.I85M(1)|p.I85I(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AGGTTGTGAAAATTTCCCCAG 0.498000 10 29 0 0 0.335167 0 0 ADD1 118 broad.mit.edu 37 4 2901114 2901114 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:2901114G>A ENST00000355842.3 + 10 1976 c.1113G>A c.(1111-1113)caG>caA p.Q371Q ADD1_ENST00000446856.1_Silent_p.Q371Q|ADD1_ENST00000264758.7_Silent_p.Q371Q|ADD1_ENST00000398129.1_Silent_p.Q371Q|ADD1_ENST00000503455.2_Silent_p.Q371Q|ADD1_ENST00000398123.2_Silent_p.Q371Q|ADD1_ENST00000398125.1_Silent_p.Q371Q|ADD1_ENST00000513328.2_Silent_p.Q371Q P35611 ADDA_HUMAN adducin 1 (alpha) 371 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding p.Q371Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCAAGTGGCAGATTGGTGAGC 0.502000 4 21 0 0 0.150653 0 0 DNAH1 25981 broad.mit.edu 37 3 52416447 52416447 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:52416447C>T ENST00000420323.2 + 50 8178 c.7917C>T c.(7915-7917)atC>atT p.I2639I NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2639 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.I2639I(2) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ACCTACCCATCACCTTCCTCT 0.577000 27 75 0 0 0.681144 0 0 ELOVL2 54898 broad.mit.edu 37 6 11005668 11005668 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:11005668G>A ENST00000354666.3 - 3 275 c.192C>T c.(190-192)ctC>ctT p.L64L NM_017770.3 NP_060240.3 Q9NXB9 ELOV2_HUMAN ELOVL fatty acid elongase 2 64 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.L64L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2) 14 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) GGATACCCCTGAGAGAAAGAG 0.433000 18 43 0 0 0.520397 0 0 TTN 7273 broad.mit.edu 37 2 179596608 179596608 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:179596608G>T ENST00000589042.1 - 58 17218 c.16994C>A c.(16993-16995)cCc>cAc p.P5665H TTN_ENST00000342992.6_Missense_Mutation_p.P4421H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P5348H|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5348 Ig-like 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P4421H(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATCTCAAAGGGAGGAGTGCC 0.423000 18 88 9.16793e-09 1.07912e-08 0.520397 1 0 CABIN1 23523 broad.mit.edu 37 22 24515486 24515486 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr22:24515486G>A ENST00000398319.2 + 28 4838 c.4453G>A c.(4453-4455)Gac>Aac p.D1485N CABIN1_ENST00000263119.5_Missense_Mutation_p.D1485N|CABIN1_ENST00000405822.2_Missense_Mutation_p.D1406N NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1485 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.D1485N(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 GAAGAGAGGGGACCTCCCAGG 0.647000 16 29 0 0 0.539581 0 0 CSMD3 114788 broad.mit.edu 37 8 113988360 113988360 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:113988360G>C ENST00000297405.5 - 7 1292 c.1048C>G c.(1048-1050)Cac>Gac p.H350D CSMD3_ENST00000343508.3_Missense_Mutation_p.H310D|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.H350D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 350 integral to membrane|plasma membrane p.H350D(1)|p.H310D(1) 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 GAGGTAGTGTGGGTCAATGTA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 58 0 0 0.639603 0 0 CACNA1A 773 broad.mit.edu 37 19 13365936 13365936 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:13365936G>A ENST00000360228.5 - 29 4727 c.4728C>T c.(4726-4728)gcC>gcT p.A1576A CACNA1A_ENST00000573710.2_Silent_p.A1577A NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1577 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.A1577A(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TGGTGTTGAGGGCGATCATGG 0.547000 6 27 0 0 0.248553 0 0 CCNB3 85417 broad.mit.edu 37 X 50053312 50053312 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:50053312G>A ENST00000376042.1 + 6 2441 c.2143G>A c.(2143-2145)Gag>Aag p.E715K CCNB3_ENST00000276014.7_Missense_Mutation_p.E715K|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 715 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding p.E715K(2) breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGCTTTGCAGGAGAAAAGCAC 0.468000 8 1 0 0 0.307466 0 0 SLC27A6 28965 broad.mit.edu 37 5 128359320 128359320 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:128359320C>A ENST00000262462.4 + 6 2182 c.1172C>A c.(1171-1173)tCc>tAc p.S391Y SLC27A6_ENST00000395266.1_Missense_Mutation_p.S391Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.S391Y Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 391 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding p.S391Y(1) NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CAGCTTCTTTCCACTTTTGAC 0.318000 10 11 2.80697e-09 3.37183e-09 0.387290 1 0 UTRN 7402 broad.mit.edu 37 6 144769762 144769762 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:144769762G>T ENST00000367545.3 + 16 1929 c.1929G>T c.(1927-1929)ggG>ggT p.G643G NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 643 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.G643G(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CAAAGCTGGGGATGTCTCAGA 0.403000 19 81 7.45023e-12 9.47474e-12 0.592651 1 0 KIF26B 55083 broad.mit.edu 37 1 245848895 245848895 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:245848895C>A ENST00000366518.4 + 9 1571 c.1467C>A c.(1465-1467)ccC>ccA p.P489P KIF26B_ENST00000407071.2_Silent_p.P870P Q2KJY2 KI26B_HUMAN kinesin family member 26B 870 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.P870Q(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACATCGGGCCCAACGGCACGG 0.657000 10 7 4.68919e-08 5.4213e-08 0.361761 1 0 KCNJ12 3768 broad.mit.edu 37 17 21319542 21319542 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:21319542G>T ENST00000583088.1 + 3 1783 c.888G>T c.(886-888)gtG>gtT p.V296V KCNJ12_ENST00000331718.5_Silent_p.V296V NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 p.V296V(1) NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) TTGAGATCGTGGTCATCCTGG 0.617000 Prostate(3;0.18) 12 47 4.36969e-10 5.34784e-10 0.435327 1 0 PLCL2 23228 broad.mit.edu 37 3 17052138 17052138 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:17052138C>G ENST00000418129.2 + 2 1387 c.922C>G c.(922-924)Cat>Gat p.H308D PLCL2_ENST00000432376.1_Missense_Mutation_p.H308D|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.H308D NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 434 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H308D(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACCTCTGTCTCATTACTTTAT 0.393000 33 111 0 0 0.750413 0 0 OR12D3 81797 broad.mit.edu 37 6 29342926 29342926 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:29342926C>T ENST00000396806.3 - 1 142 c.139G>A c.(139-141)Gtt>Att p.V47I OR5V1_ENST00000377154.1_Intron NM_030959.2 NP_112221.1 Q9UGF7 O12D3_HUMAN olfactory receptor, family 12, subfamily D, member 3 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V47I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 TCCAAAACAACCATCACCAAT 0.408000 31 11 0 0 0.740014 0 0 SCN1A 6323 broad.mit.edu 37 2 166848855 166848855 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:166848855C>A ENST00000423058.2 - 26 4947 c.4930G>T c.(4930-4932)Ggc>Tgc p.G1644C SCN1A_ENST00000409050.1_Missense_Mutation_p.G1616C|SCN1A_ENST00000375405.3_Missense_Mutation_p.G1633C|SCN1A_ENST00000303395.4_Missense_Mutation_p.G1644C|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1644 voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1633S(1)|p.G1644C(1)|p.G1644S(1)|p.G1633C(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGGATTCGGCCAATCCTAGCA 0.473000 36 49 2.05212e-20 2.99374e-20 0.812448 1 0 OR2T3 343173 broad.mit.edu 37 1 248636689 248636689 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:248636689C>A ENST00000359594.2 + 1 63 c.38C>A c.(37-39)gCa>gAa p.A13E NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 13 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A13E(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|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;0.0265) AATCAAACAGCAAGCACTGAT 0.463000 28 60 2.95478e-19 4.2057e-19 0.840704 1 0 CCDC91 55297 broad.mit.edu 37 12 28603339 28603339 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:28603339A>T ENST00000545336.1 + 13 1331 c.912A>T c.(910-912)gtA>gtT p.V304V CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381259.1_Silent_p.V304V|CCDC91_ENST00000539107.1_Silent_p.V268V|CCDC91_ENST00000306172.5_Silent_p.V274V|CCDC91_ENST00000381256.1_Silent_p.V268V Q7Z6B0 CCD91_HUMAN coiled-coil domain containing 91 304 Homodimerization. protein transport Golgi apparatus|membrane p.V304V(1) 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) AGGCATTAGTATCCGCTGCAA 0.294000 51 80 0 0 0.870114 0 0 ENOX1 55068 broad.mit.edu 37 13 43839584 43839584 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:43839584C>A ENST00000261488.6 - 14 2138 c.1561G>T c.(1561-1563)Ggt>Tgt p.G521C ENOX1_ENST00000412891.1_Missense_Mutation_p.G521C NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 521 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity p.G521C(2) 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) TCCTTGGTACCTTTTAACTGC 0.358000 81 36 2.27507e-24 3.42138e-24 0.870114 1 0 WDR25 79446 broad.mit.edu 37 14 100847475 100847475 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:100847475G>A ENST00000335290.6 + 2 440 c.214G>A c.(214-216)Gac>Aac p.D72N WDR25_ENST00000554998.1_Missense_Mutation_p.D72N|WDR25_ENST00000554175.1_Missense_Mutation_p.72_72insN|WDR25_ENST00000402312.3_Missense_Mutation_p.D72N NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 72 p.D72N(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) CTCCTGTGAAGACCCAGGGGG 0.597000 34 36 0 0 0.760397 0 0 VTA1 51534 broad.mit.edu 37 6 142491483 142491483 + Splice_Site SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:142491483A>T ENST00000367630.4 + 4 394 c.335_splice c.e4-1 p.K112_splice VTA1_ENST00000491881.1_3'UTR|VTA1_ENST00000452973.2_Splice_Site_p.K54_splice|VTA1_ENST00000367621.1_Splice_Site_p.K54_splice NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 112 Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding p.?(1) endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TCTCTTCCAGAAACATGATCA 0.303000 30 121 0 0 0.760397 0 0 PEX2 5828 broad.mit.edu 37 8 77896354 77896354 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:77896354C>T ENST00000419564.2 - 4 525 c.61G>A c.(61-63)Gat>Aat p.D21N PEX2_ENST00000357039.4_Missense_Mutation_p.D21N|PEX2_ENST00000522527.1_Missense_Mutation_p.D21N|PEX2_ENST00000520103.1_Missense_Mutation_p.D21N NM_001172087.1 NP_001165558.1 P28328 PEX2_HUMAN peroxisomal biogenesis factor 2 21 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding p.D21N(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 14 TCAAGTGCATCCAACTGGCTT 0.443000 46 83 0 0 0.870114 0 0 SH3D19 152503 broad.mit.edu 37 4 152069310 152069310 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:152069310G>A ENST00000409598.4 - 11 2173 c.1006C>T c.(1006-1008)Caa>Taa p.Q336* SH3D19_ENST00000424281.1_Nonsense_Mutation_p.Q300*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.Q300*|SH3D19_ENST00000409252.2_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000514152.1_Nonsense_Mutation_p.Q336*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.Q336* Q5HYK7 SH319_HUMAN SH3 domain containing 19 336 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding p.Q333*(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGAGGCTGTTGAGTTGGAATG 0.443000 12 220 0 0 0.387290 0 0 SSH3 54961 broad.mit.edu 37 11 67077349 67077349 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:67077349T>A ENST00000308127.4 + 12 1497 c.1319T>A c.(1318-1320)cTg>cAg p.L440Q SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_Missense_Mutation_p.L440Q NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 440 Tyrosine-protein phosphatase. regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L440Q(1) NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GAGCAGGCCCTGCGCCACGTG 0.662000 49 72 0 0 0.870114 0 0 ATP6V0A1 535 broad.mit.edu 37 17 40666370 40666370 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:40666370G>A ENST00000343619.4 + 21 2435 c.2312G>A c.(2311-2313)gGa>gAa p.G771E ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.G728E|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.G417E|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.G722E|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.G771E|ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.G765E|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.G772E NM_001130021.1 NP_001123493.1 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 771 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.G765E(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3) 26 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) AGCTTGGCGGGAGGTTTGGTG 0.577000 68 128 0 0 0.870114 0 0 LRRC73 221424 broad.mit.edu 37 6 43477341 43477341 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:43477341G>T ENST00000372441.1 - 1 1083 c.183C>A c.(181-183)ctC>ctA p.L61L NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 61 p.L61L(1) GGTTAAGGTTGAGCTGCGCCA 0.701000 5 14 0.014758 0.0149886 0.184627 1 0 DSC1 1823 broad.mit.edu 37 18 28711632 28711632 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:28711632C>T ENST00000257197.3 - 15 2673 c.2412G>A c.(2410-2412)aaG>aaA p.K804K DSC1_ENST00000257198.5_Silent_p.K804K|RP11-408H20.3_ENST00000582307.1_RNA|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 804 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.K804K(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCCCCACTCCCTTGACGGACT 0.512000 37 38 0 0 0.819951 0 0 SCN5A 6331 broad.mit.edu 37 3 38592217 38592217 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:38592217G>T ENST00000413689.1 - 28 5839 c.5646C>A c.(5644-5646)gcC>gcA p.A1882A SCN5A_ENST00000451551.2_Silent_p.A1828A|SCN5A_ENST00000333535.4_Silent_p.A1882A|SCN5A_ENST00000423572.2_Silent_p.A1881A|SCN5A_ENST00000425664.1_Silent_p.A1864A|SCN5A_ENST00000455624.2_Silent_p.A1849A|SCN5A_ENST00000450102.2_Silent_p.A1828A|SCN5A_ENST00000449557.2_Silent_p.A1828A|SCN5A_ENST00000443581.1_Silent_p.A1881A|SCN5A_ENST00000414099.2_Silent_p.A1864A NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1882 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.A1882A(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TGGATGGGTTGGCTGCCATGA 0.572000 42 47 2.95478e-19 4.2057e-19 0.840704 1 0 PCNXL4 64430 broad.mit.edu 37 14 60591648 60591648 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:60591648G>A ENST00000406854.1 + 9 3313 c.2759G>A c.(2758-2760)tGt>tAt p.C920Y PCNXL4_ENST00000535349.1_Missense_Mutation_p.C127Y|PCNXL4_ENST00000317623.4_Missense_Mutation_p.C686Y|PCNXL4_ENST00000406949.1_Missense_Mutation_p.C686Y|PCNXL4_ENST00000404681.2_Missense_Mutation_p.C920Y pecanex-like 4 (Drosophila) p.C920Y(1)|p.C686Y(1) AGGACTAGCTGTATGCCCAGT 0.423000 23 94 0 0 0.639603 0 0 OTUD7A 161725 broad.mit.edu 37 15 31796019 31796019 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:31796019A>T ENST00000382902.1 - 7 988 c.896T>A c.(895-897)gTg>gAg p.V299E OTUD7A_ENST00000307050.4_Missense_Mutation_p.V292E Q8TE49 OTU7A_HUMAN OTU domain containing 7A 292 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding p.V292E(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) AGAGTTGTCCACACTGTGAAA 0.522000 19 33 0 0 0.592651 0 0 CST11 140880 broad.mit.edu 37 20 23433431 23433431 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:23433431C>A ENST00000377009.3 - 1 51 c.18G>T c.(16-18)tgG>tgT p.W6C CST11_ENST00000377007.3_Missense_Mutation_p.W6C NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 6 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity p.W6F(1) kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) GTAGGGCCTGCCAGGGCTCAG 0.542000 13 22 7.03913e-09 8.31897e-09 0.411799 1 0 HOOK3 84376 broad.mit.edu 37 8 42863026 42863026 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:42863026G>T ENST00000307602.4 + 18 1892 c.1692G>T c.(1690-1692)aaG>aaT p.K564N HOOK3_ENST00000524839.1_3'UTR NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 564 Required for association with Golgi.|Required for interaction with MSR1. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding p.K564N(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) AACTACAGAAGAAGAGAGCCA 0.373000 T RET papillary thyroid 10 74 1.76689e-08 2.06314e-08 0.335167 1 0 OR9A2 135924 broad.mit.edu 37 7 142723355 142723355 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:142723355G>A ENST00000350513.2 - 1 927 c.865C>T c.(865-867)Cgg>Tgg p.R289W NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R289W(2) central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TTGTCATTCCGAAGAGTAAAG 0.448000 14 50 0 0 0.435327 0 0 HTR2B 3357 broad.mit.edu 37 2 231973592 231973592 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:231973592A>T ENST00000258400.3 - 4 1597 c.1085T>A c.(1084-1086)cTg>cAg p.L362Q PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000488354.1_3'UTR NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 362 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity p.L362Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) AAATATCTCCAGGAGCATTTG 0.383000 21 60 0 0 0.608945 0 0 BRDT 676 broad.mit.edu 37 1 92442839 92442839 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:92442839G>T ENST00000370389.2 + 6 1563 c.639G>T c.(637-639)aaG>aaT p.K213N BRDT_ENST00000399546.2_Missense_Mutation_p.K286N|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000362005.3_Missense_Mutation_p.K286N|BRDT_ENST00000394530.3_Missense_Mutation_p.K240N|BRDT_ENST00000402388.1_Missense_Mutation_p.K286N NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.K286N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TGCTTGCAAAGAAACATTTTT 0.353000 43 44 1.15183e-24 1.73665e-24 0.847076 1 0 OR5D16 390144 broad.mit.edu 37 11 55607017 55607017 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:55607017C>A ENST00000378396.1 + 1 790 c.790C>A c.(790-792)Ccc>Acc p.P264T NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P264T(2) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) CTACTGTGTACCCAACTCCAA 0.522000 21 58 4.96729e-08 5.72021e-08 0.575678 1 0 CDH6 1004 broad.mit.edu 37 5 31294250 31294250 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:31294250G>T ENST00000265071.2 + 3 675 c.410G>T c.(409-411)aGa>aTa p.R137I CDH6_ENST00000514738.1_Missense_Mutation_p.R82I NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 137 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.R137I(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGGACAGGGAGACCCGTGGAG 0.473000 34 145 3.03874e-20 4.41107e-20 0.779181 1 0 NDST4 64579 broad.mit.edu 37 4 115997820 115997820 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:115997820T>C ENST00000264363.2 - 2 1051 c.373A>G c.(373-375)Aaa>Gaa p.K125E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 125 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.K125E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TATTTCCCTTTGCCATTATCT 0.383000 10 57 0 0 0.335167 0 0 SLC35F1 222553 broad.mit.edu 37 6 118635234 118635234 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:118635234G>T ENST00000360388.4 + 8 1247 c.1046G>T c.(1045-1047)gGg>gTg p.G349V NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 349 transport integral to membrane p.G349V(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) ATCCTCATTGGGCTGGTGCTC 0.488000 41 60 1.23103e-26 1.88029e-26 0.864702 1 0 GRIN3B 116444 broad.mit.edu 37 19 1004961 1004961 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:1004961G>A ENST00000234389.3 + 3 1480 c.1461G>A c.(1459-1461)ctG>ctA p.L487L GRIN3B_ENST00000588335.1_3'UTR NM_138690.1 NP_619635.1 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 487 ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity p.L487L(1) breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) TGGAGCGGCTGGCGGAGGACA 0.706000 16 7 0 0 0.592651 0 0 DSE 29940 broad.mit.edu 37 6 116720740 116720740 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:116720740G>T ENST00000331677.3 + 3 771 c.327G>T c.(325-327)ttG>ttT p.L109F DSE_ENST00000540275.1_3'UTR|DSE_ENST00000537543.1_Missense_Mutation_p.L128F|DSE_ENST00000452085.3_Missense_Mutation_p.L109F|DSE_ENST00000359564.2_Missense_Mutation_p.L109F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 109 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity p.L109F(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) TGGGTGCCTTGGCAATGTTCT 0.512000 17 46 1.67942e-08 1.96885e-08 0.539581 1 0 RAD54L2 23132 broad.mit.edu 37 3 51679135 51679135 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:51679135G>A ENST00000409535.1 + 16 2671 c.2546G>A c.(2545-2547)cGg>cAg p.R849Q RAD54L2_ENST00000296477.3_Missense_Mutation_p.R543Q NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 849 Helicase C-terminal. nucleus ATP binding|DNA binding|helicase activity p.R849Q(1) NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GCAGTATGTCGGGTATACCGT 0.493000 12 16 0 0 0.387290 0 0 MINA 84864 broad.mit.edu 37 3 97686195 97686195 + Silent SNP G G A rs143209673 byFrequency TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:97686195G>A ENST00000333396.6 - 2 825 c.243C>T c.(241-243)ttC>ttT p.F81F MINA_ENST00000360258.4_Silent_p.F81F|MINA_ENST00000330299.2_Silent_p.F81F|MINA_ENST00000394198.2_Silent_p.F81F NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen 81 ribosome biogenesis cytoplasm|nucleolus p.F81F(1) breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 CTGTTAGCTTGAACAGGGACC 0.473000 132 50 0 0 0.870114 0 0 PCDH10 57575 broad.mit.edu 37 4 134072045 134072045 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:134072045C>T ENST00000264360.4 + 1 1576 c.750C>T c.(748-750)ttC>ttT p.F250F NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 250 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F250F(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGCCCGCTTTCGACCAACCCG 0.657000 14 55 0 0 0.457914 0 0 OR51A4 401666 broad.mit.edu 37 11 4967877 4967877 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:4967877A>T ENST00000380373.2 - 1 479 c.454T>A c.(454-456)Ttt>Att p.F152I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F152I(1) large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGCTCTTAAAGGAGAATACT 0.423000 52 127 0 0 0.870114 0 0 CD180 4064 broad.mit.edu 37 5 66479106 66479106 + Missense_Mutation SNP A A C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:66479106A>C ENST00000256447.4 - 3 1722 c.1565T>G c.(1564-1566)aTg>aGg p.M522R NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 522 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity p.M522R(1) cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TACATGGCTCATTTTTCCCAA 0.478000 6 17 0 0 0.248553 0 0 KCNC4 3749 broad.mit.edu 37 1 110765692 110765692 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:110765692G>T ENST00000369787.3 + 2 812 c.785G>T c.(784-786)cGc>cTc p.R262L KCNC4_ENST00000413138.3_Missense_Mutation_p.R262L|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.R262L NM_004978.4 NP_004969.2 Q03721 KCNC4_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 4 262 synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.R262L(2) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2) 32 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GAGATCCTCCGCGTAGGGAAC 0.562000 29 53 3.99451e-17 5.5904e-17 0.740014 1 0 OR4K17 390436 broad.mit.edu 37 14 20585717 20585717 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:20585717C>A ENST00000315543.4 + 1 152 c.152C>A c.(151-153)tCc>tAc p.S51Y NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S51Y(1) kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) CTGACCAGCTCCCAGGATGTA 0.438000 131 197 4.84861e-73 7.96752e-73 0.870114 1 0 TLN2 83660 broad.mit.edu 37 15 63073381 63073381 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:63073381G>T ENST00000561311.1 + 43 5787 c.5557G>T c.(5557-5559)Gac>Tac p.D1853Y TLN2_ENST00000306829.6_Missense_Mutation_p.D1853Y|TLN2_ENST00000472902.1_Missense_Mutation_p.D246Y Q9Y4G6 TLN2_HUMAN talin 2 1853 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.D1853Y(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AACATTTGTCGACTATCAGAC 0.488000 10 25 0.000978159 0.00102549 0.387290 1 0 SLC14A2 8170 broad.mit.edu 37 18 43221223 43221223 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:43221223C>A ENST00000255226.6 + 8 1857 c.1041C>A c.(1039-1041)agC>agA p.S347R SLC14A2_ENST00000586448.1_Missense_Mutation_p.S347R NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 347 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity p.S347R(1) NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCTCTGGAGCTACAACTGCG 0.552000 11 26 6.40141e-05 6.87124e-05 0.387290 1 0 SAV1 60485 broad.mit.edu 37 14 51111641 51111641 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:51111641C>G ENST00000324679.4 - 3 990 c.627G>C c.(625-627)tgG>tgC p.W209C NM_021818.3 NP_068590.1 Q9H4B6 SAV1_HUMAN salvador homolog 1 (Drosophila) 209 WW 1. hippo signaling cascade cytoplasm|nucleus identical protein binding p.W209C(1) breast(1)|kidney(2)|lung(2)|prostate(1) 6 all_epithelial(31;0.000611)|Breast(41;0.0333) CTCTCATTGTCCAGTCCACAG 0.458000 13 77 0 0 0.457914 0 0 MIR510 574515 broad.mit.edu 37 X 146353884 146353884 + RNA SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:146353884A>T ENST00000384909.1 - 0 42 NR_030237.1 TTTCAATCACACCTAATTACA 0.398000 16 21 0 0 0.500413 0 0 FGF1 2246 broad.mit.edu 37 5 141993563 141993563 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:141993563C>A ENST00000359370.6 - 2 209 c.130G>T c.(130-132)Ggc>Tgc p.G44C AC005592.2_ENST00000443800.1_RNA|FGF1_ENST00000337706.2_Missense_Mutation_p.G44C|FGF1_ENST00000494579.1_Intron|FGF1_ENST00000360966.5_Missense_Mutation_p.G44C|FGF1_ENST00000419524.2_Missense_Mutation_p.G44C|AC005592.2_ENST00000414314.1_RNA|FGF1_ENST00000407758.1_Missense_Mutation_p.G44C|FGF1_ENST00000378046.1_Missense_Mutation_p.G44C NM_000800.4|NM_001144892.2|NM_001144934.1|NM_001144935.1|NM_001257205.1|NM_001257206.1|NM_001257207.1|NM_001257210.1|NM_001257212.1|NM_033137.2 NP_000791.1|NP_001138364.1|NP_001138406.1|NP_001138407.1|NP_001244134.1|NP_001244135.1|NP_001244136.1|NP_001244139.1|NP_001244141.1|NP_149128.1 P05230 FGF1_HUMAN fibroblast growth factor 1 (acidic) 44 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space fibroblast growth factor receptor binding|growth factor activity|heparin binding|S100 alpha binding p.G44C(2) large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TCCACTGTGCCATCCGGAAGG 0.547000 27 22 1.80694e-10 2.21606e-10 0.740014 1 0 SEC22B 9554 broad.mit.edu 37 1 145116003 145116003 + RNA SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:145116003A>G ENST00000453618.1 + 0 1089 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TTCTGCCTCTAAAGACCTTGC 0.428000 6 48 0 0 0.217242 0 0 DCHS2 54798 broad.mit.edu 37 4 155157307 155157307 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:155157307C>A ENST00000357232.3 - 25 7131 c.7132G>T c.(7132-7134)Gat>Tat p.D2378Y NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 2378 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D2378Y(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GCATGAATATCCCCTGTCAAA 0.413000 787 65 0 0 0.870114 1 0 NRXN1 9378 broad.mit.edu 37 2 50280681 50280681 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:50280681C>A ENST00000404971.1 - 22 5315 c.3976G>T c.(3976-3978)Ggg>Tgg p.G1326W NRXN1_ENST00000406859.3_Missense_Mutation_p.G1256W|NRXN1_ENST00000406316.2_Missense_Mutation_p.G1256W|NRXN1_ENST00000401710.1_Missense_Mutation_p.G274W|NRXN1_ENST00000405472.3_Missense_Mutation_p.G1278W|NRXN1_ENST00000401669.2_Missense_Mutation_p.G1286W|NRXN1_ENST00000402717.3_Missense_Mutation_p.G1278W|NRXN1_ENST00000342183.5_Missense_Mutation_p.G221W NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1256 Poly-Thr. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.G1326W(1)|p.G221W(1)|p.G1327W(1)|p.G1256W(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGCTCTTTCCCGCCAATTATT 0.448000 19 61 1.10513e-12 1.43349e-12 0.624587 1 0 MMEL1 79258 broad.mit.edu 37 1 2538455 2538455 + Missense_Mutation SNP C C T rs148947796 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:2538455C>T ENST00000288709.6 - 7 802 c.562G>A c.(562-564)Gga>Aga p.G188R MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000378412.3_Missense_Mutation_p.G197R NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 197 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity p.G188R(1) cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGCCAGCCTCCCACCACCTCC 0.637000 30 35 0 0 0.779181 0 0 CLINT1 9685 broad.mit.edu 37 5 157218842 157218842 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:157218842C>A ENST00000523094.1 - 10 1400 c.1195G>T c.(1195-1197)Gcc>Tcc p.A399S CLINT1_ENST00000530742.1_Missense_Mutation_p.A399S|CLINT1_ENST00000296951.5_Missense_Mutation_p.A399S|CLINT1_ENST00000411809.2_Missense_Mutation_p.A417S|CLINT1_ENST00000523908.1_Missense_Mutation_p.A417S NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 417 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding p.A399S(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAATTTGAGGCAGCAGGAGGT 0.507000 14 31 1.41608e-15 1.92652e-15 0.435327 1 0 HIST1H1E 3008 broad.mit.edu 37 6 26156692 26156692 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:26156692G>C ENST00000304218.3 + 1 134 c.74G>C c.(73-75)cGc>cCc p.R25P NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 25 nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.R25P(1) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 AAGAAGGCCCGCAAGTCTGCA 0.647000 55 20 0 0 0.870114 0 0 KIF26B 55083 broad.mit.edu 37 1 245848894 245848894 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:245848894C>A ENST00000366518.4 + 9 1570 c.1466C>A c.(1465-1467)cCc>cAc p.P489H KIF26B_ENST00000407071.2_Missense_Mutation_p.P870H Q2KJY2 KI26B_HUMAN kinesin family member 26B 870 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.P870Q(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TACATCGGGCCCAACGGCACG 0.657000 10 7 4.68919e-08 5.4213e-08 0.361761 1 0 ARAP2 116984 broad.mit.edu 37 4 36150074 36150074 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:36150074C>A ENST00000303965.4 - 17 3442 c.2953G>T c.(2953-2955)Gct>Tct p.A985S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 985 PH 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.A985S(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GATGTTTCAGCTCCAAATAAA 0.358000 10 28 3.07112e-06 3.38982e-06 0.387290 1 0 TRHDE 29953 broad.mit.edu 37 12 73046138 73046138 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:73046138A>T ENST00000261180.4 + 16 2673 c.2577A>T c.(2575-2577)acA>acT p.T859T NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 859 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.T859T(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TATACTGTACAGGAGTGTCAC 0.358000 38 28 0 0 0.840704 0 0 OR5T3 390154 broad.mit.edu 37 11 56019896 56019896 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:56019896G>T ENST00000303059.3 + 1 221 c.221G>T c.(220-222)gGg>gTg p.G74V NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G74V(1) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) GGCAATTTAGGGCTGGTTGTG 0.368000 23 66 1.9806e-07 2.25418e-07 0.624587 1 0 KDM5A 5927 broad.mit.edu 37 12 427541 427541 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:427541C>T ENST00000399788.2 - 19 2990 c.2628G>A c.(2626-2628)atG>atA p.M876I KDM5A_ENST00000382815.4_Missense_Mutation_p.M876I NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 876 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M876I(2) NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TATCTATCAACATCTGGAGTT 0.458000 T NUP98 AML 33 74 0 0 0.769981 0 0 CAD 790 broad.mit.edu 37 2 27462633 27462633 + Silent SNP A A C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:27462633A>C ENST00000264705.4 + 34 5625 c.5463A>C c.(5461-5463)ccA>ccC p.P1821P CAD_ENST00000403525.1_Silent_p.P1758P NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1821 Linker. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.P1821P(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) CTCAGCTCCCACCCTCAGCCC 0.607000 7 67 0 0 0.575678 0 0 CARD11 84433 broad.mit.edu 37 7 2972221 2972221 + Splice_Site SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:2972221C>T ENST00000396946.4 - 11 1922 c.e11-1 NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.?(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCTCTGCAGCTAAAAGGGAG 0.483000 Mis DLBCL 8 15 0 0 0.307466 0 0 LRRC32 2615 broad.mit.edu 37 11 76372429 76372429 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:76372429C>A ENST00000407242.2 - 3 450 c.208G>T c.(208-210)Ggc>Tgc p.G70C LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.G70C|LRRC32_ENST00000404995.1_Missense_Mutation_p.G70C NM_005512.2 NP_005503.1 Q14392 LRC32_HUMAN leucine rich repeat containing 32 70 integral to plasma membrane p.G70C(1) endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1) 31 GTGTAGAAGCCCAGGGGTGAG 0.622000 14 48 1.3612e-06 1.52549e-06 0.479597 1 0 OR2F1 26211 broad.mit.edu 37 7 143657299 143657299 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:143657299C>A ENST00000392899.1 + 1 273 c.236C>A c.(235-237)cCt>cAt p.P79H NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P79H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) AGTGTAGTCCCTCAGCTGCTG 0.502000 64 187 1.77791e-30 2.73705e-30 0.870114 1 0 RPS6KA6 27330 broad.mit.edu 37 X 83390111 83390111 + Splice_Site SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:83390111C>A ENST00000262752.2 - 7 616 c.e7+1 RPS6KA6_ENST00000543399.1_Splice_Site NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.?(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 TACAGCTTTACTTTTCTGGCT 0.353000 5 12 5.9392e-07 6.7074e-07 0.217242 1 0 HOXA5 3202 broad.mit.edu 37 7 27182769 27182769 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:27182769G>T ENST00000222726.3 - 1 518 c.458C>A c.(457-459)gCc>gAc p.A153D HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 153 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A153D(1) central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1) 16 GCTGGCAGGGGCGTCCTCCTC 0.701000 39 114 6.21074e-16 8.50886e-16 0.859065 1 0 MYH7B 57644 broad.mit.edu 37 20 33582124 33582124 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:33582124G>A ENST00000262873.7 + 25 2838 c.2746G>A c.(2746-2748)Gag>Aag p.E916K NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 874 membrane|myosin filament actin binding|ATP binding|motor activity p.E916K(1) NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGCTGCGGCCGAGGCCAAGCG 0.677000 16 54 0 0 0.479597 0 0 OR10J1 26476 broad.mit.edu 37 1 159409741 159409741 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:159409741C>T ENST00000423932.3 + 1 230 c.193C>T c.(193-195)Cat>Tat p.H65Y RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 65 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity p.H65Y(1)|p.H221Y(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) AATGGATCTTCATCTTCACAC 0.458000 28 115 0 0 0.693898 0 0 RIMS2 9699 broad.mit.edu 37 8 105105868 105105868 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:105105868T>C ENST00000436393.2 + 21 3132 c.2891T>C c.(2890-2892)aTc>aCc p.I964T RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 410 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AACAAGAAAATCAGGTAAGGG 0.373000 HNSCC(12;0.0054) 14 36 0 0 0.479597 0 0 FBXL7 23194 broad.mit.edu 37 5 15937076 15937076 + Silent SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:15937076C>G ENST00000504595.1 + 4 1738 c.1257C>G c.(1255-1257)ggC>ggG p.G419G FBXL7_ENST00000329673.7_Silent_p.G407G|FBXL7_ENST00000510662.1_Silent_p.G372G NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 419 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.G419G(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCGACACGGGCCTGGAGTGCC 0.602000 6 17 0 0 0.217242 0 0 DENND2A 27147 broad.mit.edu 37 7 140246656 140246656 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:140246656G>A ENST00000275884.6 - 12 2538 c.2121C>T c.(2119-2121)ttC>ttT p.F707F DENND2A_ENST00000496613.1_Silent_p.F707F|DENND2A_ENST00000537639.1_Silent_p.F707F|DENND2A_ENST00000492720.1_Silent_p.F707F Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 707 DENN. p.F707F(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) CCAGGGCTGGGAAAGGGGCTT 0.537000 15 12 0 0 0.479597 0 0 NTNG1 22854 broad.mit.edu 37 1 107691420 107691420 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:107691420G>T ENST00000370067.1 + 2 832 c.205G>T c.(205-207)Gat>Tat p.D69Y NTNG1_ENST00000370068.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370072.3_Missense_Mutation_p.D69Y|NTNG1_ENST00000370073.2_Missense_Mutation_p.D69Y|NTNG1_ENST00000370074.4_Missense_Mutation_p.D69Y|NTNG1_ENST00000542803.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370061.3_Missense_Mutation_p.D69Y|NTNG1_ENST00000370065.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370070.2_Missense_Mutation_p.D69Y|NTNG1_ENST00000370066.1_Missense_Mutation_p.D69Y|NTNG1_ENST00000370071.2_Missense_Mutation_p.D69Y Q9Y2I2 NTNG1_HUMAN netrin G1 69 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding p.D69Y(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) CGATCCTCCGGATATTACCTG 0.433000 25 67 1.42536e-11 1.78934e-11 0.681144 1 0 LRP1B 53353 broad.mit.edu 37 2 141093288 141093288 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:141093288C>T ENST00000389484.3 - 78 12983 c.12012G>A c.(12010-12012)ctG>ctA p.L4004L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4004 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L4004L(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAGAGTACCTCAGACTGGTCC 0.458000 TSP Lung(27;0.18) 21 104 0 0 0.624587 0 0 CSMD3 114788 broad.mit.edu 37 8 113504807 113504807 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:113504807C>A ENST00000297405.5 - 31 5433 c.5189G>T c.(5188-5190)gGt>gTt p.G1730V CSMD3_ENST00000343508.3_Missense_Mutation_p.G1690V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1626V|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1730V NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1730 Sushi 9. integral to membrane|plasma membrane p.G1730V(1)|p.G1690V(1) 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 AAGAACATAACCAGCATCACA 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 105 2.21704e-12 2.85047e-12 0.639603 1 0 ADH1A 124 broad.mit.edu 37 4 100205962 100205962 + Splice_Site SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:100205962T>A ENST00000209668.2 - 4 373 c.e4-2 RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding p.?(1) endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTTTATCACCTGGAGAGGGAT 0.363000 22 19 0 0 0.608945 0 0 PFKFB4 5210 broad.mit.edu 37 3 48563078 48563078 + Missense_Mutation SNP C C T rs149503701 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:48563078C>T ENST00000232375.3 - 10 1124 c.1012G>A c.(1012-1014)Gag>Aag p.E338K PFKFB4_ENST00000416568.1_Missense_Mutation_p.E331K|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000383734.2_Intron|PFKFB4_ENST00000536104.1_Missense_Mutation_p.E327K|PFKFB4_ENST00000545984.1_3'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.E304K NM_004567.2 NP_004558.1 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 338 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity p.E338K(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) TGAATTTCCTCGTAGGTCATT 0.557000 6 13 0 0 0.248553 0 0 CT47B1 643311 broad.mit.edu 37 X 120009188 120009188 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:120009188G>T ENST00000371311.3 - 1 591 c.337C>A c.(337-339)Cgt>Agt p.R113S NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 113 p.R113S(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 GGGTACCGACGGGTGGCCACC 0.647000 11 9 3.07112e-06 3.38982e-06 0.387290 1 0 TRIO 7204 broad.mit.edu 37 5 14358319 14358319 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:14358319G>C ENST00000344204.4 + 12 2103 c.2079G>C c.(2077-2079)gaG>gaC p.E693D TRIO_ENST00000537187.1_Missense_Mutation_p.E693D|TRIO_ENST00000509967.2_Missense_Mutation_p.E644D NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 693 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity p.E693D(1) NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TGCAGAAGGAGCTGCTGGACG 0.682000 8 27 0 0 0.335167 0 0 EBF2 64641 broad.mit.edu 37 8 25747273 25747273 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:25747273G>C ENST00000520164.1 - 8 1283 c.746C>G c.(745-747)tCg>tGg p.S249W EBF2_ENST00000408929.3_Missense_Mutation_p.S101W NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 249 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.S249W(2) endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) CCTACCTTCCGATGGATCGAG 0.473000 44 19 0 0 0.870114 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74911421 74911421 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:74911421G>T ENST00000289575.5 + 11 2147 c.1752G>T c.(1750-1752)atG>atT p.M584I SLCO2B1_ENST00000532236.1_Missense_Mutation_p.M468I|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.M357I|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.M329I|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.M440I|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.M357I|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.M562I NM_007256.4 NP_009187.1 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, member 2B1 584 sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity p.M584I(1) breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 39 Ergoloid mesylate(DB01049) CCTCCTTCATGCTCATCCTAA 0.602000 28 110 2.4375e-19 3.49494e-19 0.717897 1 0 CACNA2D1 781 broad.mit.edu 37 7 81641520 81641520 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:81641520C>T ENST00000356860.3 - 15 1650 c.1312G>A c.(1312-1314)Gga>Aga p.G438R MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.G438R|CACNA2D1_ENST00000464354.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 438 voltage-gated calcium channel complex metal ion binding p.G438R(1) breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) GCTTTGTCTCCTGCTAAAACC 0.373000 8 48 0 0 0.307466 0 0 IGHE 3497 broad.mit.edu 37 14 106066370 106066370 + RNA SNP T T C rs1134593 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:106066370T>C ENST00000412518.1 - 0 6 IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA CACAGCTGGATGGAGCCCTGG 0.602000 5 119 0 0 0.361761 0 0 LAMA4 3910 broad.mit.edu 37 6 112499347 112499347 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:112499347G>A ENST00000230538.7 - 10 1562 c.1165C>T c.(1165-1167)Cat>Tat p.H389Y LAMA4_ENST00000389463.4_Missense_Mutation_p.H382Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.H382Y|LAMA4_ENST00000522006.1_Missense_Mutation_p.H382Y NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 389 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.H382Y(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTCATATCATGGGCTTGCTCT 0.383000 14 63 0 0 0.457914 0 0 PTBP2 58155 broad.mit.edu 37 1 97236293 97236293 + Silent SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:97236293A>G ENST00000236228.6 + 5 400 c.318A>G c.(316-318)gcA>gcG p.A106A PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.A106A|PTBP2_ENST00000394184.3_Silent_p.A117A|PTBP2_ENST00000426398.2_Silent_p.A106A|PTBP2_ENST00000541987.1_Silent_p.A75A|PTBP2_ENST00000370198.1_Silent_p.A106A NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 106 RRM 1. nucleotide binding p.A106A(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) CCGAGGAAGCAGCTATTACTA 0.308000 56 36 0 0 0.870114 0 0 CAPN6 827 broad.mit.edu 37 X 110490676 110490676 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:110490676G>T ENST00000324068.1 - 12 1830 c.1663C>A c.(1663-1665)Cag>Aag p.Q555K CAPN6_ENST00000541758.1_Missense_Mutation_p.Q300K NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 555 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.Q555K(1)|p.Q555*(1) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GTATTCTTCTGGACAGGAGAA 0.408000 87 12 1.07134e-49 1.74092e-49 0.870114 1 0 TTC21B 79809 broad.mit.edu 37 2 166785655 166785655 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:166785655C>G ENST00000243344.7 - 11 1513 c.1376G>C c.(1375-1377)tGt>tCt p.C459S NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 459 cilium axoneme|cytoplasm|cytoskeleton binding p.C459S(1) breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 CTGCATTGGACAGAAGCTCAG 0.328000 4 37 0 0 0.184627 0 0 VCAN 1462 broad.mit.edu 37 5 82837721 82837721 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:82837721G>T ENST00000265077.3 + 8 9464 c.8899G>T c.(8899-8901)Gaa>Taa p.E2967* VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1980*|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2967 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.E2967*(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CGATGAAATTGAATTAGAAGG 0.468000 53 27 4.78724e-31 7.40883e-31 0.870114 1 0 RUNX1T1 862 broad.mit.edu 37 8 93003909 93003909 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:93003909G>A ENST00000523629.1 - 7 1403 c.949C>T c.(949-951)Cac>Tac p.H317Y RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H290Y|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H317Y|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H290Y|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H280Y|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H328Y NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 317 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H317Y(1)|p.H280Y(1)|p.H328Y(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGCTGGGGTGTCGATAGGAG 0.552000 50 90 0 0 0.870114 0 0 SYNE2 23224 broad.mit.edu 37 14 64488150 64488150 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:64488150G>A ENST00000358025.3 + 36 5499 c.5269G>A c.(5269-5271)Gcc>Acc p.A1757T SYNE2_ENST00000554584.1_Missense_Mutation_p.A1757T|SYNE2_ENST00000344113.4_Missense_Mutation_p.A1757T|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1757 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.A1757T(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCTCGACCAAGCCAAGACCCA 0.493000 3 72 0 0 0.115264 0 0 DGKI 9162 broad.mit.edu 37 7 137255965 137255965 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:137255965C>T ENST00000453654.1 - 19 1542 c.1003G>A c.(1003-1005)Gat>Aat p.D335N DGKI_ENST00000288490.5_Missense_Mutation_p.D635N|DGKI_ENST00000446122.1_Missense_Mutation_p.D635N|DGKI_ENST00000424189.2_Missense_Mutation_p.D635N O75912 DGKI_HUMAN diacylglycerol kinase, iota 635 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.D635N(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 TAACCATCATCATGACGCTGA 0.368000 10 29 0 0 0.411799 0 0 OR52E4 390081 broad.mit.edu 37 11 5906247 5906247 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:5906247G>A ENST00000316987.2 + 1 747 c.725G>A c.(724-726)tGt>tAt p.C242Y NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C242Y(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCAATACCTGTGGTTCTCAT 0.403000 33 70 0 0 0.788014 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184626183 184626183 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:184626183G>T ENST00000334690.6 + 27 3217 c.3015G>T c.(3013-3015)ccG>ccT p.P1005P TRAPPC11_ENST00000512476.1_Silent_p.P611P|TRAPPC11_ENST00000357207.4_Silent_p.P1005P NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 1005 p.P1005P(1) TCACTCTGCCGCACGTGATTG 0.383000 64 38 3.13765e-25 4.74297e-25 0.870114 1 0 VPS13B 157680 broad.mit.edu 37 8 100865784 100865784 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:100865784C>T ENST00000358544.2 + 56 10353 c.10242C>T c.(10240-10242)ctC>ctT p.L3414L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3389L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3414 protein transport p.L3414L(1)|p.L3389L(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTCTGAGACTCACACTGGACA 0.493000 33 42 0 0 0.788014 0 0 PRSS1 5644 broad.mit.edu 37 7 142459794 142459794 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:142459794T>A ENST00000486171.1 + 4 429 c.412T>A c.(412-414)Tcc>Acc p.S138T PRSS1_ENST00000311737.7_Missense_Mutation_p.S124T P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 124 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.S124T(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CGCCCGCGTGTCCACCATCTC 0.577000 48 45 0 0 0.870114 0 0 NFKB1 4790 broad.mit.edu 37 4 103504055 103504055 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:103504055G>T ENST00000226574.4 + 10 1335 c.868G>T c.(868-870)Gaa>Taa p.E290* NFKB1_ENST00000394820.4_Nonsense_Mutation_p.E289*|NFKB1_ENST00000505458.1_Nonsense_Mutation_p.E289*|NFKB1_ENST00000600343.1_Nonsense_Mutation_p.E109* NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 289 RHD. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.E290*(1) biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TGAAGAGGAAGAAAATGGTGG 0.308000 14 39 6.72482e-11 8.33479e-11 0.479597 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33588844 33588844 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:33588844G>A ENST00000504830.1 - 18 3060 c.2725C>T c.(2725-2727)Ctg>Ttg p.L909L ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.L824L NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 909 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L909L(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGGATGCACAGCACGGTTCGC 0.607000 HNSCC(64;0.19) OREG0016553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 60 0 0 0.788014 0 0 CASZ1 54897 broad.mit.edu 37 1 10714191 10714191 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:10714191G>A ENST00000377022.3 - 11 2240 c.1923C>T c.(1921-1923)gcC>gcT p.A641A CASZ1_ENST00000344008.5_Silent_p.A641A|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 641 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.A641A(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) AGCCGTCCTTGGCGTAGGCAT 0.552000 43 24 0 0 0.827153 0 0 PKHD1 5314 broad.mit.edu 37 6 51890939 51890939 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:51890939C>G ENST00000371117.3 - 32 3944 c.3669G>C c.(3667-3669)agG>agC p.R1223S PKHD1_ENST00000340994.4_Missense_Mutation_p.R1223S NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1223 IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.R1223S(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGCTGGGTCCCTGCTGAAGC 0.473000 48 12 0 0 0.870114 0 0 GALC 2581 broad.mit.edu 37 14 88406293 88406293 + Nonsense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:88406293C>A ENST00000261304.2 - 16 1973 c.1867G>T c.(1867-1869)Gaa>Taa p.E623* GALC_ENST00000393568.4_Nonsense_Mutation_p.E600*|GALC_ENST00000544807.2_Nonsense_Mutation_p.E567*|GALC_ENST00000393569.2_Nonsense_Mutation_p.E597* NM_000153.3|NM_001201401.1 NP_000144.2|NP_001188330.1 P54803 GALC_HUMAN galactosylceramidase 623 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity p.E623*(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCTGTAACTTCAACACGTCCT 0.318000 34 192 9.45814e-24 1.41148e-23 0.804634 1 0 NT5C3A 51251 broad.mit.edu 37 7 33055308 33055308 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:33055308G>A ENST00000396152.2 - 9 1068 c.766C>T c.(766-768)Ctg>Ttg p.L256L AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Silent_p.L244L|NT5C3A_ENST00000381626.2_Silent_p.L244L|NT5C3A_ENST00000405342.1_Silent_p.L256L|NT5C3A_ENST00000242210.7_Silent_p.L295L NM_016489.12 NP_057573.2 5'-nucleotidase, cytosolic IIIA p.L256L(2)|p.L295L(2) CCAATTTTCAGAATGTGCTCA 0.328000 35 91 0 0 0.796494 0 0 SGIP1 84251 broad.mit.edu 37 1 67185020 67185020 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:67185020C>A ENST00000371037.4 + 19 1751 c.1674C>A c.(1672-1674)gaC>gaA p.D558E SGIP1_ENST00000371035.3_Missense_Mutation_p.D348E|SGIP1_ENST00000371036.3_Missense_Mutation_p.D360E|SGIP1_ENST00000371039.1_Missense_Mutation_p.D361E|SGIP1_ENST00000237247.6_Missense_Mutation_p.D589E|SGIP1_ENST00000435165.2_Missense_Mutation_p.D63E NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 558 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding p.D361E(1)|p.D558E(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 GAGCTCAGGACACTCTCCCTG 0.428000 5 8 0.014758 0.0149886 0.184627 1 0 SYNE3 161176 broad.mit.edu 37 14 95932316 95932316 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:95932316G>C ENST00000334258.5 - 3 593 c.579C>G c.(577-579)gcC>gcG p.A193A SYNE3_ENST00000557275.1_Silent_p.A193A|SYNE3_ENST00000553340.1_Silent_p.A193A NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 p.A193A(3) breast(1)|endometrium(2)|lung(25) 28 TTCTCTTCTGGGCATCTTCGT 0.607000 12 53 0 0 0.435327 0 0 MIR485 574436 broad.mit.edu 37 14 101521810 101521810 + RNA SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:101521810G>T ENST00000385292.2 + 0 73 NR_030160.1 AGTCATACACGGCTCTCCTCT 0.517000 25 39 1.1804e-14 1.58379e-14 0.667858 1 0 TUBG2 27175 broad.mit.edu 37 17 40818413 40818413 + Nonsense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:40818413C>T ENST00000251412.7 + 10 1268 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 357 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity p.Q357*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) CGCCAGCATCCAGGTGGCCCT 0.647000 12 88 0 0 0.457914 0 0 TRPA1 8989 broad.mit.edu 37 8 72946498 72946498 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:72946498G>T ENST00000262209.4 - 22 2877 c.2670C>A c.(2668-2670)atC>atA p.I890I RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 890 integral to plasma membrane p.I890I(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) AATTCAGGAGGATGTAAAAGC 0.299000 13 42 1.5739e-10 1.93838e-10 0.500413 1 0 CXorf22 170063 broad.mit.edu 37 X 35988934 35988934 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:35988934G>T ENST00000297866.5 + 11 1930 c.1864G>T c.(1864-1866)Gca>Tca p.A622S NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 622 p.A622S(2) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TCATGATTTTGCATATACTAC 0.279000 9 5 0.000442599 0.000466524 0.335167 1 0 SEC31B 25956 broad.mit.edu 37 10 102256930 102256930 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:102256930C>A ENST00000370345.3 - 17 2195 c.2098G>T c.(2098-2100)Gca>Tca p.A700S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 700 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.W699_A700>CS(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) TGGCATTTTGCCCAGCACTCC 0.607000 17 24 5.03518e-11 6.28056e-11 0.557998 1 0 CHRNA7 1139 broad.mit.edu 37 15 32460267 32460267 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:32460267G>T ENST00000306901.3 + 10 1214 c.1117G>T c.(1117-1119)Gcc>Tcc p.A373S CHRNA7_ENST00000454250.3_Missense_Mutation_p.A402S|CHRNA7_ENST00000455693.2_Missense_Mutation_p.A192S NM_000746.5 NP_000737.1 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 (neuronal) 373 activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding p.A283S(1)|p.A373S(1) endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) GGAGATGAGCGCCGTGGCGCC 0.706000 14 39 2.35188e-11 2.94615e-11 0.539581 1 0 CPA4 51200 broad.mit.edu 37 7 129962387 129962387 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:129962387C>T ENST00000222482.4 + 11 1165 c.1137C>T c.(1135-1137)ttC>ttT p.F379F CPA4_ENST00000493259.1_Silent_p.F275F|CPA4_ENST00000445470.2_Silent_p.F346F NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 379 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding p.F379F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) AATTTGCATTCACATTTGAGT 0.527000 18 80 0 0 0.539581 0 0 MPP6 51678 broad.mit.edu 37 7 24705690 24705690 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:24705690C>T ENST00000396475.2 + 9 1233 c.934C>T c.(934-936)Ctc>Ttc p.L312F MPP6_ENST00000222644.4_Missense_Mutation_p.L312F|MPP6_ENST00000409761.1_Missense_Mutation_p.L200F NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 312 protein complex assembly protein binding p.L312F(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GATGATGTATCTCACAACCAG 0.313000 38 187 0 0 0.834066 0 0 NAV3 89795 broad.mit.edu 37 12 78574754 78574754 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:78574754C>A ENST00000397909.2 + 30 5794 c.5621C>A c.(5620-5622)tCc>tAc p.S1874Y NAV3_ENST00000228327.6_Missense_Mutation_p.S1852Y|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000536525.2_Missense_Mutation_p.S1852Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1675Y Q8IVL0 NAV3_HUMAN neuron navigator 3 1874 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.S1852Y(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGCAGCACCTCCTCTTCATCT 0.453000 HNSCC(70;0.22) 52 16 2.84144e-21 4.19758e-21 0.870114 1 0 HSPH1 10808 broad.mit.edu 37 13 31725161 31725161 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:31725161C>T ENST00000320027.5 - 7 1175 c.831G>A c.(829-831)atG>atA p.M277I HSPH1_ENST00000380406.5_Missense_Mutation_p.M236I|HSPH1_ENST00000445273.2_Missense_Mutation_p.M279I|HSPH1_ENST00000429785.2_Missense_Mutation_p.M96I|HSPH1_ENST00000380405.4_Missense_Mutation_p.M277I NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 277 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding p.M277I(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TGTTAGAGCTCATTAGCTTTT 0.363000 26 33 0 0 0.693898 0 0 GALNT18 374378 broad.mit.edu 37 11 11314662 11314662 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:11314662G>T ENST00000227756.4 - 10 2002 c.1591C>A c.(1591-1593)Ctg>Atg p.L531M NM_198516.2 NP_940918.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18 p.L531M(1) ACGTCCACCAGGCATCGGTTG 0.587000 8 26 5.18039e-06 5.69648e-06 0.278610 1 0 PRKCB 5579 broad.mit.edu 37 16 24202429 24202429 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:24202429G>T ENST00000303531.7 + 16 1893 c.1741G>T c.(1741-1743)Ggc>Tgc p.G581C PRKCB_ENST00000321728.7_Missense_Mutation_p.G581C NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 581 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding p.G581C(2) central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CAAACACCCAGGCAAACGTCT 0.413000 28 20 1.08052e-11 1.35936e-11 0.796494 1 0 OR10H5 284433 broad.mit.edu 37 19 15905665 15905665 + Silent SNP G G T rs138375774 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:15905665G>T ENST00000308940.8 + 1 905 c.807G>T c.(805-807)ccG>ccT p.P269P NM_001004466.1 NP_001004466.1 Q8NGA6 O10H5_HUMAN olfactory receptor, family 10, subfamily H, member 5 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P269P(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1) 20 CCCAGTCTCCGGAAGGAGACA 0.567000 26 15 4.87955e-14 6.45823e-14 0.693898 1 0 MYH7 4625 broad.mit.edu 37 14 23885271 23885271 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:23885271G>A ENST00000355349.3 - 34 5057 c.4895C>T c.(4894-4896)gCc>gTc p.A1632V NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1632 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.A1632V(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCGGTTGGCGTGGCTGAG 0.612000 42 56 0 0 0.853193 0 0 NEK1 4750 broad.mit.edu 37 4 170347354 170347354 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:170347354C>T ENST00000439128.2 - 28 3473 c.2833G>A c.(2833-2835)Gaa>Aaa p.E945K NEK1_ENST00000510533.1_Missense_Mutation_p.E901K|NEK1_ENST00000512193.1_Missense_Mutation_p.E876K|NEK1_ENST00000511633.1_Missense_Mutation_p.E929K|NEK1_ENST00000507142.1_Missense_Mutation_p.E973K NM_012224.2 NP_036356.1 Q96PY6 NEK1_HUMAN NIMA-related kinase 1 945 cell division|cilium assembly|mitosis nucleus|pericentriolar material ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.E973K(2) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1) 45 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14) TCAGAAACTTCATTTTCCTGA 0.383000 5 17 0 0 0.217242 0 0 SERPINA3 12 broad.mit.edu 37 14 95081191 95081191 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:95081191G>A ENST00000553947.1 + 5 1376 c.488G>A c.(487-489)gGa>gAa p.G163E SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393078.3_Missense_Mutation_p.G138E|SERPINA3_ENST00000467132.1_Missense_Mutation_p.G138E|SERPINA3_ENST00000393080.4_Missense_Mutation_p.G138E P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 138 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity p.G138E(1) NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) CTGAGTATGGGAAATGCCATG 0.537000 11 39 0 0 0.387290 0 0 MYH1 4619 broad.mit.edu 37 17 10398275 10398275 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:10398275C>T ENST00000226207.5 - 37 5533 c.5439G>A c.(5437-5439)aaG>aaA p.K1813K CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1813 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.K1813K(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGATCTGCTTCTTCCCACCCT 0.532000 24 60 0 0 0.681144 0 0 LYZL1 84569 broad.mit.edu 37 10 29599112 29599112 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:29599112C>A ENST00000375500.3 + 4 567 c.510C>A c.(508-510)aaC>aaA p.N170K NM_032517.4 NP_115906.3 Q6UWQ5 LYZL1_HUMAN lysozyme-like 1 124 cell wall macromolecule catabolic process extracellular region lysozyme activity p.N170K(1) central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1) 11 Breast(68;0.203) AAGGAATGAACTATTGGTAAG 0.413000 27 27 6.32553e-13 8.2415e-13 0.681144 1 0 FGD5 152273 broad.mit.edu 37 3 14862106 14862106 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:14862106C>A ENST00000285046.5 + 1 1638 c.1528C>A c.(1528-1530)Cct>Act p.P510T FGD5_ENST00000543601.1_Missense_Mutation_p.P269T NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 510 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 p.P510T(1)|p.P269T(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CTCGTCAGCCCCTGGCATTGG 0.642000 6 27 2.0095e-06 2.2349e-06 0.248553 1 0 MYH1 4619 broad.mit.edu 37 17 10409210 10409210 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:10409210C>A ENST00000226207.5 - 19 2187 c.2093G>T c.(2092-2094)aGg>aTg p.R698M CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 698 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.R698M(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 ACCGTTACACCTCAGCTGATG 0.488000 31 9 3.1745e-13 4.17321e-13 0.729181 1 0 SPARCL1 8404 broad.mit.edu 37 4 88416260 88416260 + Translation_Start_Site SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:88416260G>C ENST00000503414.1 - 0 241 SPARCL1_ENST00000418378.1_Missense_Mutation_p.S25C|SPARCL1_ENST00000282470.6_Missense_Mutation_p.S25C Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding p.S25C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) GGAATGATCAGATAATAATCT 0.353000 55 65 0 0 0.870114 0 0 GPC2 221914 broad.mit.edu 37 7 99768065 99768065 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:99768065C>T ENST00000292377.2 - 10 1695 c.1528G>A c.(1528-1530)Gat>Aat p.D510N GPC2_ENST00000471050.1_5'UTR NM_152742.1 NP_689955.1 Q8N158 GPC2_HUMAN glypican 2 510 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.D510N(1) NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3) 18 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCCAGTCATCTGCATACTGC 0.632000 13 13 0 0 0.479597 0 0 AKAP6 9472 broad.mit.edu 37 14 33015819 33015819 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:33015819C>T ENST00000280979.4 + 4 2130 c.1960C>T c.(1960-1962)Ctg>Ttg p.L654L AKAP6_ENST00000557272.1_Silent_p.L654L|AKAP6_ENST00000557354.1_Silent_p.L654L NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 654 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.L654L(1) NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AACAAAGCTTCTGCCTCAGAA 0.433000 17 47 0 0 0.539581 0 0 RAB37 326624 broad.mit.edu 37 17 72741181 72741181 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:72741181A>G ENST00000340415.3 + 8 1512 c.503A>G c.(502-504)aAg>aGg p.K168R RAB37_ENST00000402449.4_Missense_Mutation_p.K168R|RAB37_ENST00000528438.1_Missense_Mutation_p.K148R|RAB37_ENST00000392612.3_Missense_Mutation_p.K138R|RAB37_ENST00000392613.5_Missense_Mutation_p.K175R|RAB37_ENST00000392614.4_Missense_Mutation_p.K180R|RAB37_ENST00000392610.1_Missense_Mutation_p.K175R|RAB37_ENST00000392615.5_Missense_Mutation_p.K143R NM_175738.4 NP_783865.1 Q96AX2 RAB37_HUMAN RAB37, member RAS oncogene family 175 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding p.K168R(2)|p.K175R(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 ACCAGCGCCAAGACTGGCATG 0.637000 OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 49 0 0 0.307466 0 0 POFUT1 23509 broad.mit.edu 37 20 30804817 30804817 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:30804817G>A ENST00000375730.3 + 5 598 c.549G>A c.(547-549)gaG>gaA p.E183E POFUT1_ENST00000375749.3_Intron|POFUT1_ENST00000486717.1_Intron|POFUT1_ENST00000539210.1_Intron NM_172236.1 NP_758436.1 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 0 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity p.E183E(1) breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CTAGGCGTGAGAATCACTCCT 0.458000 14 49 0 0 0.500413 0 0 MICAL3 57553 broad.mit.edu 37 22 18363985 18363985 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr22:18363985G>T ENST00000429452.1 - 17 2678 c.2326C>A c.(2326-2328)Cat>Aat p.H776N MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000585038.1_Missense_Mutation_p.H776N|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000441493.2_Intron NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1465 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding p.H776N(1) large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) TGGCCGCCATGTGCCCGACAG 0.552000 18 31 8.34094e-07 9.38355e-07 0.575678 1 0 KANSL1L 151050 broad.mit.edu 37 2 210887816 210887816 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:210887816C>T ENST00000281772.9 - 15 3084 c.2821G>A c.(2821-2823)Gaa>Aaa p.E941K KANSL1L_ENST00000418791.1_Missense_Mutation_p.E899K NM_152519.2 NP_689732.2 A0AUZ9 CB067_HUMAN KAT8 regulatory NSL complex subunit 1-like 941 p.E941K(1) CTTGACCTTTCAACCTGATCC 0.448000 7 51 0 0 0.248553 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629772 9629772 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:9629772G>T ENST00000382492.2 - 1 691 c.373C>A c.(373-375)Ctg>Atg p.L125M CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 125 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity p.L125M(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 CATGGGACCAGCTTGGATATC 0.473000 17 27 3.99206e-14 5.30762e-14 0.557998 1 0 KEAP1 9817 broad.mit.edu 37 19 10600330 10600330 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:10600330C>A ENST00000171111.5 - 4 2072 c.1525G>T c.(1525-1527)Ggg>Tgg p.G509W KEAP1_ENST00000393623.2_Missense_Mutation_p.G509W NM_203500.1 NP_987096.1 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding p.G509W(1) 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) CCACCTGCCCCGCTTCGGATG 0.602000 26 13 3.73148e-12 4.76619e-12 0.717897 1 0 RP11-407N17.3 0 broad.mit.edu 37 14 39717036 39717036 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:39717036G>T ENST00000553728.1 + 4 1471 c.1258G>T c.(1258-1260)Gac>Tac p.D420Y MIA2_ENST00000556784.1_Missense_Mutation_p.D419Y|MIA2_ENST00000280082.3_Missense_Mutation_p.D420Y p.D420Y(1) AAGTGAATTAGACCCTGAAAA 0.338000 27 41 5.61819e-17 7.82533e-17 0.693898 1 0 NFRKB 4798 broad.mit.edu 37 11 129751624 129751624 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:129751624C>G ENST00000446488.3 - 11 1419 c.1316G>C c.(1315-1317)cGa>cCa p.R439P NFRKB_ENST00000524794.1_Missense_Mutation_p.R464P|NFRKB_ENST00000524746.1_Missense_Mutation_p.R439P|NFRKB_ENST00000304521.5_Missense_Mutation_p.R439P NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 439 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding p.R464P(1) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) CATCTTACCTCGACTTTCTCC 0.478000 OREG0021512 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 6 0 0 0.307466 0 0 CFHR1 3078 broad.mit.edu 37 1 196794686 196794686 + Silent SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:196794686T>C ENST00000320493.5 + 2 226 c.138T>C c.(136-138)ccT>ccC p.P46P CFHR1_ENST00000498248.1_3'UTR|CFHR1_ENST00000367424.3_Silent_p.P46P|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 46 Sushi 1. complement activation extracellular space p.P46P(1) NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 CCCAGGTTCCTACAGGGGAAG 0.338000 10 48 0 0 0.361761 0 0 ZMYND8 23613 broad.mit.edu 37 20 45905074 45905074 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:45905074G>A ENST00000311275.7 - 11 1657 c.1404C>T c.(1402-1404)ttC>ttT p.F468F ZMYND8_ENST00000458360.2_Silent_p.F463F|ZMYND8_ENST00000471951.2_Silent_p.F488F|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000446994.2_Silent_p.F405F|ZMYND8_ENST00000540497.1_Silent_p.F463F|ZMYND8_ENST00000536340.1_Silent_p.F495F|ZMYND8_ENST00000396281.4_Silent_p.F468F|ZMYND8_ENST00000262975.4_Silent_p.F468F|ZMYND8_ENST00000352431.2_Silent_p.F488F|ZMYND8_ENST00000372023.3_Silent_p.F463F|ZMYND8_ENST00000355972.4_Silent_p.F468F|ZMYND8_ENST00000360911.3_Silent_p.F463F|ZMYND8_ENST00000461685.1_Silent_p.F488F Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 468 protein binding|zinc ion binding p.F488F(1) NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TCTTATCCAGGAAGTCCATGG 0.632000 7 27 0 0 0.307466 0 0 LAMA1 284217 broad.mit.edu 37 18 6973142 6973142 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:6973142T>C ENST00000389658.3 - 47 6781 c.6688A>G c.(6688-6690)Aca>Gca p.T2230A NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2230 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.T2230A(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GATTTACTTGTTTTTGTTGGT 0.363000 47 26 0 0 0.859065 0 0 CCKBR 887 broad.mit.edu 37 11 6292013 6292013 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:6292013G>C ENST00000525462.1 + 4 794 c.791G>C c.(790-792)cGa>cCa p.R264P CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Missense_Mutation_p.R264P|CCKBR_ENST00000532715.1_Missense_Mutation_p.R180P P32239 GASR_HUMAN cholecystokinin B receptor 215 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding p.R264P(2) NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AGCAGGGTCCGAAACCAAGGC 0.637000 15 14 0 0 0.520397 0 0 SLC10A7 84068 broad.mit.edu 37 4 147179844 147179844 + Splice_Site SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:147179844C>A ENST00000432059.2 - 10 1200 c.954_splice c.e10+1 p.K318_splice SLC10A7_ENST00000335472.7_Splice_Site_p.K331_splice|SLC10A7_ENST00000507030.1_Splice_Site_p.K331_splice|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Splice_Site_p.K331_splice Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 331 integral to membrane bile acid:sodium symporter activity p.K331N(1) endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) GGGGACTCACCTTCTGCCTTG 0.413000 28 50 1.13719e-10 1.40349e-10 0.729181 1 0 KIAA1549L 25758 broad.mit.edu 37 11 33564735 33564735 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:33564735C>A ENST00000321505.4 + 1 915 c.735C>A c.(733-735)ctC>ctA p.L245L KIAA1549L_ENST00000265654.5_Silent_p.L245L|KIAA1549L_ENST00000389726.3_Silent_p.L245L KIAA1549-like p.L245L(2) GAGACTTGCTCCTCTCAAGCA 0.507000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 30 3.80469e-20 5.50927e-20 0.740014 1 0 SLC17A9 63910 broad.mit.edu 37 20 61594722 61594722 + Splice_Site SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:61594722G>A ENST00000370349.3 + 7 911 c.e7+1 SLC17A9_ENST00000370351.4_Splice_Site|SLC17A9_ENST00000488738.1_Splice_Site Q9BYT1 S17A9_HUMAN solute carrier family 17 (vesicular nucleotide transporter), member 9 exocytosis|transmembrane transport integral to membrane transporter activity p.?(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 23 CTGCTGTCTGGTGAGCTGGGA 0.667000 11 23 0 0 0.387290 0 0 VIL1 7429 broad.mit.edu 37 2 219292707 219292707 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:219292707G>C ENST00000248444.5 + 5 455 c.367G>C c.(367-369)Gct>Cct p.A123P VIL1_ENST00000440053.1_Missense_Mutation_p.A123P|VIL1_ENST00000392114.2_Intron NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 123 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity p.A123P(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGGGGCGTGGCTTCTGGCAT 0.617000 31 126 0 0 0.827153 0 0 KIF15 56992 broad.mit.edu 37 3 44835823 44835823 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:44835823G>C ENST00000326047.4 + 8 903 c.754G>C c.(754-756)Gag>Cag p.E252Q NM_020242.2 NP_064627.1 Q9NS87 KIF15_HUMAN kinesin family member 15 252 Kinesin-motor. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity p.E252Q(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5) 36 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GAAAAGTAATGAGATTGTGAA 0.418000 13 44 0 0 0.411799 0 0 SDK1 221935 broad.mit.edu 37 7 4169711 4169711 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:4169711G>C ENST00000404826.2 + 27 4250 c.4111G>C c.(4111-4113)Gag>Cag p.E1371Q SDK1_ENST00000389531.3_Missense_Mutation_p.E1371Q NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1371 Fibronectin type-III 7. cell adhesion integral to membrane p.E1371Q(2) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCTCATCCTGGAGCGCACCAA 0.627000 19 64 0 0 0.608945 0 0 SPANXN3 139067 broad.mit.edu 37 X 142605183 142605183 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:142605183T>C ENST00000370503.2 - 1 120 c.37A>G c.(37-39)Acg>Gcg p.T13A NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 13 p.T13A(1) endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) GGGCTCTTCGTCTTCTCCCCA 0.458000 21 112 0 0 0.608945 0 0 PRDM5 11107 broad.mit.edu 37 4 121737722 121737722 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:121737722G>A ENST00000264808.3 - 7 991 c.751C>T c.(751-753)Cag>Tag p.Q251* PRDM5_ENST00000428209.2_Nonsense_Mutation_p.Q220*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.Q220* NM_018699.2 NP_061169.2 Q9NQX1 PRDM5_HUMAN PR domain containing 5 251 histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding p.Q251*(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TCCTGGTGCTGCTCAAAACTA 0.488000 3 39 0 0 0.115264 0 0 PRDM16 63976 broad.mit.edu 37 1 3103017 3103017 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:3103017G>T ENST00000378398.3 + 2 448 c.366G>T c.(364-366)aaG>aaT p.K122N PRDM16_ENST00000511072.1_Missense_Mutation_p.K122N|PRDM16_ENST00000514189.1_Missense_Mutation_p.K122N|PRDM16_ENST00000270722.5_Missense_Mutation_p.K122N|PRDM16_ENST00000442529.2_Missense_Mutation_p.K122N|PRDM16_ENST00000441472.2_Missense_Mutation_p.K122N|PRDM16_ENST00000378391.2_Missense_Mutation_p.K122N Q9HAZ2 PRD16_HUMAN PR domain containing 16 122 SET. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.K122N(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGGCGGCAAAGGAGACAGACT 0.612000 T EVI1 """MDS, AML""" 7 12 2.0095e-06 2.2349e-06 0.248553 1 0 CNST 163882 broad.mit.edu 37 1 246811078 246811078 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:246811078G>T ENST00000366513.4 + 9 1844 c.1575G>T c.(1573-1575)gaG>gaT p.E525D CNST_ENST00000366512.3_Missense_Mutation_p.E525D|CNST_ENST00000483271.1_3'UTR NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 525 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding p.E525D(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TGCTTCCAGAGGTGTGTATGG 0.428000 48 52 1.86633e-21 2.76406e-21 0.870114 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232600610 232600610 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:232600610G>A ENST00000366630.1 - 8 3154 c.2796C>T c.(2794-2796)atC>atT p.I932I SIPA1L2_ENST00000262861.4_Silent_p.I932I Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 932 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.I932I(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CAATTTCCCTGATGTCTTCAG 0.403000 11 55 0 0 0.411799 0 0 HRNR 388697 broad.mit.edu 37 1 152188244 152188244 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:152188244T>C ENST00000368801.2 - 3 5936 c.5861A>G c.(5860-5862)cAt>cGt p.H1954R FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1954 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) ACCAGACCCATGTCGGCCACG 0.617000 15 1083 0 0 0.457914 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218276 130218276 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:130218276A>G ENST00000276211.5 + 5 988 c.643A>G c.(643-645)Att>Gtt p.I215V ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I79V|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I203V NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 215 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.I215V(1) breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TTCCTTTCCAATTGGCCAACG 0.493000 6 20 0 0 0.278610 0 0 TJP1 7082 broad.mit.edu 37 15 30008950 30008950 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:30008950C>T ENST00000346128.6 - 23 4541 c.4067G>A c.(4066-4068)cGa>cAa p.R1356Q TJP1_ENST00000356107.6_Missense_Mutation_p.R1356Q|TJP1_ENST00000400011.2_Missense_Mutation_p.R1280Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R1276Q NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1356 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.R1356Q(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) CAGCTGTTTTCGATAATATTC 0.453000 36 19 0 0 0.796494 0 0 MIA3 375056 broad.mit.edu 37 1 222833533 222833533 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:222833533A>T ENST00000344922.5 + 24 5015 c.4990A>T c.(4990-4992)Aat>Tat p.N1664Y MIA3_ENST00000340535.7_Missense_Mutation_p.N542Y|MIA3_ENST00000344441.6_Missense_Mutation_p.N1664Y|MIA3_ENST00000344507.1_Intron NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 1664 Pro-rich. exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding p.N1664Y(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TCTGAGCCAGAATGGCTCTTT 0.468000 38 19 0 0 0.847076 0 0 KYNU 8942 broad.mit.edu 37 2 143743548 143743548 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:143743548G>A ENST00000264170.4 + 10 1118 c.860G>A c.(859-861)gGt>gAt p.G287D KYNU_ENST00000409512.1_Missense_Mutation_p.G287D|KYNU_ENST00000375773.2_Missense_Mutation_p.G287D NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 287 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 p.G287D(2) 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) GGAATTGCTGGTGCCTTCATT 0.318000 6 28 0 0 0.278610 0 0 SLC25A15 10166 broad.mit.edu 37 13 41373228 41373228 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:41373228G>C ENST00000338625.4 + 3 327 c.91G>C c.(91-93)Gac>Cac p.D31H SLC25A15_ENST00000478827.1_3'UTR NM_014252.3 NP_055067.1 Q9Y619 ORNT1_HUMAN solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 31 cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity p.D31H(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1) 14 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704) L-Ornithine(DB00129) GCAGCCCTTTGACACAATGAA 0.542000 22 36 0 0 0.654019 0 0 CPSF2 53981 broad.mit.edu 37 14 92600598 92600598 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:92600598G>A ENST00000298875.4 + 5 599 c.314G>A c.(313-315)cGa>cAa p.R105Q NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 105 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding p.R105Q(1) breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) TTTTAGTCTCGACACAATACA 0.299000 19 35 0 0 0.575678 0 0 CHD7 55636 broad.mit.edu 37 8 61654428 61654428 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:61654428G>T ENST00000423902.2 + 2 916 c.437G>T c.(436-438)gGc>gTc p.G146V CHD7_ENST00000525508.1_Missense_Mutation_p.G146V|CHD7_ENST00000524602.1_Missense_Mutation_p.G146V NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 146 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.G146V(2) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCATGTGGGGCCCCAGGGCT 0.657000 10 8 0.00829132 0.00853947 0.361761 1 0 UNC5D 137970 broad.mit.edu 37 8 35606136 35606136 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:35606136A>T ENST00000287272.2 + 11 1671 c.1651A>T c.(1651-1653)Atc>Ttc p.I551F UNC5D_ENST00000453357.2_Missense_Mutation_p.I615F|UNC5D_ENST00000449677.1_Missense_Mutation_p.I196F|UNC5D_ENST00000416672.1_Missense_Mutation_p.I625F|UNC5D_ENST00000420357.1_Missense_Mutation_p.I553F|UNC5D_ENST00000404895.2_Missense_Mutation_p.I620F Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 620 ZU5. apoptosis|axon guidance integral to membrane receptor activity p.I615F(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TGCATTGACCATCCCGCACTG 0.502000 37 25 0 0 0.819951 0 0 CHL1 10752 broad.mit.edu 37 3 419533 419533 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:419533C>A ENST00000256509.2 + 16 2426 c.1784C>A c.(1783-1785)tCt>tAt p.S595Y CHL1_ENST00000397491.2_Missense_Mutation_p.S579Y|CHL1-AS1_ENST00000417612.1_RNA NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 579 Ig-like C2-type 6. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.S595Y(1) NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTGACCATATCTAATGTAACT 0.353000 41 50 8.16277e-20 1.17616e-19 0.827153 1 0 ANKRD33 341405 broad.mit.edu 37 12 52282534 52282534 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:52282534C>A ENST00000301190.6 + 2 555 c.328C>A c.(328-330)Cag>Aag p.Q110K ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR|ANKRD33_ENST00000538991.1_5'UTR NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 0 p.Q110K(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) TGATCCCACCCAGCTCCAAGC 0.647000 28 15 5.60225e-13 7.3318e-13 0.740014 1 0 TRPV6 55503 broad.mit.edu 37 7 142573311 142573311 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:142573311G>T ENST00000359396.3 - 8 1277 c.1032C>A c.(1030-1032)acC>acA p.T344T NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 344 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.T344T(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) TGCAGCACATGGTGAAGCAGA 0.587000 34 89 2.80507e-11 3.50634e-11 0.760397 1 0 ALKBH8 91801 broad.mit.edu 37 11 107423852 107423852 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:107423852C>G ENST00000428149.2 - 5 728 c.577G>C c.(577-579)Gat>Cat p.D193H ALKBH8_ENST00000417449.2_Missense_Mutation_p.D196H|ALKBH8_ENST00000429370.1_Missense_Mutation_p.D193H|ALKBH8_ENST00000389568.3_Missense_Mutation_p.D193H NM_138775.2 NP_620130.2 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 (E. coli) 193 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity p.D193H(2)|p.D196H(1) breast(2)|large_intestine(2)|lung(5) 9 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) AATGGCTTATCTTTATCTACA 0.303000 4 49 0 0 0.184627 0 0 MYOF 26509 broad.mit.edu 37 10 95116584 95116584 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:95116584G>A ENST00000371501.4 - 30 3264 c.3142C>T c.(3142-3144)Caa>Taa p.Q1048* MYOF_ENST00000358334.5_Nonsense_Mutation_p.Q1035*|MYOF_ENST00000359263.4_Nonsense_Mutation_p.Q1048*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.Q1048* Q9NZM1 MYOF_HUMAN myoferlin 1048 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding p.Q1048*(1) NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CAGCCCTCTTGGTCTTGCAAT 0.408000 15 23 0 0 0.479597 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612618 79612618 + RNA SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:79612618T>C ENST00000328585.4 + 0 727 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane p.C213L(1) ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) GCTGAGGTGCTGCGGAGCTGC 0.652000 6 9 0 0 0.248553 0 0 REG3G 130120 broad.mit.edu 37 2 79255046 79255046 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:79255046G>C ENST00000272324.5 + 5 631 c.447G>C c.(445-447)ctG>ctC p.L149L REG3G_ENST00000409471.1_Silent_p.L103L|REG3G_ENST00000393897.2_Silent_p.L149L NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 149 C-type lectin. acute-phase response extracellular region sugar binding p.L149L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GTGGGAGCCTGTCAAGAAGCA 0.488000 38 43 0 0 0.834066 0 0 RUNDC1 146923 broad.mit.edu 37 17 41142924 41142924 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:41142924G>T ENST00000361677.1 + 5 1045 c.1033G>T c.(1033-1035)Gcg>Tcg p.A345S NM_173079.2 NP_775102.2 Q96C34 RUND1_HUMAN RUN domain containing 1 345 p.A345S(1) breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GATGCGGCGAGCGCTGGCCGT 0.577000 35 54 2.95478e-19 4.2057e-19 0.840704 1 0 ADD2 119 broad.mit.edu 37 2 70901905 70901905 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:70901905G>A ENST00000264436.3 - 14 2090 c.1646C>T c.(1645-1647)tCa>tTa p.S549L ADD2_ENST00000355733.3_Missense_Mutation_p.S549L|ADD2_ENST00000407644.2_Missense_Mutation_p.S549L NM_001617.3 NP_001608.1 P35612 ADDB_HUMAN adducin 2 (beta) 549 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding p.S549L(2) autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CGTCTCCTCTGAATCGTCTTT 0.512000 40 51 0 0 0.853193 0 0 AQP12B 653437 broad.mit.edu 37 2 241621957 241621957 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:241621957C>G ENST00000407834.3 - 1 360 c.298G>C c.(298-300)Gag>Cag p.E100Q NM_001102467.1 NP_001095937.1 A6NM10 AQ12B_HUMAN aquaporin 12B 88 integral to membrane transporter activity p.E100Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1) 13 all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) ATGAGGAACTCCTGCAGGGAC 0.687000 3 25 0 0 0.248553 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232600588 232600588 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:232600588C>G ENST00000366630.1 - 8 3176 c.2818G>C c.(2818-2820)Gta>Cta p.V940L SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V940L Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 940 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.V940L(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GTACTTACTACTAATCGCTGA 0.383000 11 41 0 0 0.387290 0 0 OR13C9 286362 broad.mit.edu 37 9 107379868 107379868 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:107379868G>A ENST00000259362.1 - 1 617 c.618C>T c.(616-618)ttC>ttT p.F206F NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F206F(1) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 GCATCAATGTGAACAATATTG 0.418000 18 38 0 0 0.575678 0 0 CCDC171 203238 broad.mit.edu 37 9 15721814 15721814 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:15721814G>T ENST00000380701.3 + 12 1694 c.1366G>T c.(1366-1368)Gag>Tag p.E456* CCDC171_ENST00000297641.3_Nonsense_Mutation_p.E456* NM_173550.2 NP_775821.2 Q6TFL3 CI093_HUMAN coiled-coil domain containing 171 456 p.E456*(1) TGTTGTCCTTGAGAGATTGAG 0.423000 65 27 3.07281e-33 4.80641e-33 0.870114 1 0 CSMD3 114788 broad.mit.edu 37 8 114290908 114290908 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:114290908G>C ENST00000297405.5 - 3 671 c.427C>G c.(427-429)Cca>Gca p.P143A CSMD3_ENST00000343508.3_Missense_Mutation_p.P103A|CSMD3_ENST00000455883.2_Missense_Mutation_p.P143A|CSMD3_ENST00000352409.3_Missense_Mutation_p.P143A NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 143 CUB 1. integral to membrane|plasma membrane p.P103A(1)|p.P143A(1) 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 CTTGTCACTGGAGGTGGCAGA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 7 58 0 0 0.307466 0 0 LAMA2 3908 broad.mit.edu 37 6 129465092 129465092 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:129465092C>A ENST00000421865.2 + 5 735 c.686C>A c.(685-687)tCt>tAt p.S229Y NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 229 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.S229Y(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GATGATCCTTCTCCAGAACTG 0.373000 29 30 3.73148e-12 4.76619e-12 0.717897 1 0 SDPR 8436 broad.mit.edu 37 2 192700754 192700754 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:192700754C>T ENST00000304141.4 - 2 1502 c.1173G>A c.(1171-1173)caG>caA p.Q391Q NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 391 caveola|cytosol phosphatidylserine binding|protein binding p.Q391Q(1) NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGCGTACCTTCTGTGCCTGTT 0.612000 27 96 0 0 0.717897 0 0 HCN1 348980 broad.mit.edu 37 5 45262537 45262537 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:45262537G>T ENST00000303230.4 - 8 2216 c.2159C>A c.(2158-2160)gCc>gAc p.A720D NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 720 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.A720D(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGTGGGGGAGGCATAGTGGAA 0.662000 14 22 1.52009e-12 1.96303e-12 0.479597 1 0 TRO 7216 broad.mit.edu 37 X 54956525 54956525 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:54956525C>G ENST00000173898.7 + 12 3480 c.3368C>G c.(3367-3369)cCc>cGc p.P1123R TRO_ENST00000375041.2_Missense_Mutation_p.P726R|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.P654R NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1123 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane p.P1123R(1) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 GGTGGTACTCCCAGCAACAGC 0.587000 28 16 0 0 0.706142 0 0 TNNT3 7140 broad.mit.edu 37 11 1955021 1955021 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:1955021C>A ENST00000381558.1 + 9 497 c.218C>A c.(217-219)gCc>gAc p.A73D TNNT3_ENST00000381579.3_Missense_Mutation_p.A73D|TNNT3_ENST00000278317.6_Missense_Mutation_p.A81D|TNNT3_ENST00000381589.3_Missense_Mutation_p.A79D|TNNT3_ENST00000397301.1_Missense_Mutation_p.A92D|TNNT3_ENST00000381549.3_Missense_Mutation_p.A73D|TNNT3_ENST00000360603.3_Missense_Mutation_p.A75D|TNNT3_ENST00000446240.1_Missense_Mutation_p.A62D|TNNT3_ENST00000381561.4_Missense_Mutation_p.A84D|TNNT3_ENST00000381548.3_Missense_Mutation_p.A83D|TNNT3_ENST00000397304.2_Missense_Mutation_p.A62D P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 92 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding p.A79D(1)|p.A81D(1) breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) CACTTTGAAGCCCGGAAGAAG 0.602000 17 21 2.5808e-16 3.56077e-16 0.539581 1 0 DYNC2LI1 51626 broad.mit.edu 37 2 44021745 44021745 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:44021745G>C ENST00000260605.8 + 6 570 c.470G>C c.(469-471)aGa>aCa p.R157T DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.R157T|DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R157T|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R31T NM_001193464.1|NM_016008.3 NP_001180393.1|NP_057092.2 Q8TCX1 DC2L1_HUMAN dynein, cytoplasmic 2, light intermediate chain 1 157 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity p.R157T(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1) 26 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTGAAATGAGACAGAAGATC 0.388000 21 54 0 0 0.608945 0 0 GLRA4 441509 broad.mit.edu 37 X 102974190 102974190 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:102974190G>T ENST00000372617.4 - 7 1148 c.728C>A c.(727-729)aCc>aAc p.T243N NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 243 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.T243N(2) cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTCGATGCAGGTGAATTTCCC 0.552000 48 14 3.21987e-24 4.81745e-24 0.870114 1 0 TAAR2 9287 broad.mit.edu 37 6 132938383 132938383 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:132938383C>A ENST00000275191.2 - 1 934 c.827G>T c.(826-828)tGg>tTg p.W276L TAAR2_ENST00000367931.1_Missense_Mutation_p.W321L|TAAR2_ENST00000537809.1_Missense_Mutation_p.W276L NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 321 plasma membrane G-protein coupled receptor activity p.W321L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) TCTGCGAAACCAGGGATAGAA 0.353000 11 28 7.03913e-09 8.31897e-09 0.411799 1 0 LEFTY1 10637 broad.mit.edu 37 1 226075725 226075725 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:226075725G>T ENST00000272134.5 - 2 337 c.258C>A c.(256-258)gcC>gcA p.A86A LEFTY1_ENST00000492457.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.R195R NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 86 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding p.A86A(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) GGAACCTGCCGGCCACCTCTG 0.697000 7 16 0.00448238 0.00464928 0.307466 1 0 ASPM 259266 broad.mit.edu 37 1 197070516 197070516 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:197070516T>A ENST00000367409.4 - 18 8121 c.7865A>T c.(7864-7866)cAg>cTg p.Q2622L ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2622 mitosis cytoplasm|nucleus calmodulin binding p.Q2622L(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTGCTGTTCCTGAATCTGTTT 0.348000 17 26 0 0 0.539581 0 0 GFOD2 81577 broad.mit.edu 37 16 67709851 67709851 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:67709851T>A ENST00000268797.7 - 3 710 c.365A>T c.(364-366)aAc>aTc p.N122I GFOD2_ENST00000602377.1_5'UTR NM_030819.3 NP_110446.3 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain containing 2 122 proteinaceous extracellular matrix binding|oxidoreductase activity p.N122I(1) breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) GCGCAGCACGTTCCCTACCAG 0.577000 8 45 0 0 0.307466 0 0 COLGALT2 23127 broad.mit.edu 37 1 183920145 183920145 + Nonsense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:183920145C>A ENST00000361927.4 - 8 1503 c.1132G>T c.(1132-1134)Gga>Tga p.G378* COLGALT2_ENST00000367520.3_Nonsense_Mutation_p.G115*|COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.G378* NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 p.G378*(1) ACTCACTTTCCATCCACAGCC 0.493000 51 153 4.44712e-29 6.82826e-29 0.870114 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140746246 140746246 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:140746246G>C ENST00000518069.1 + 1 2349 c.2349G>C c.(2347-2349)gaG>gaC p.E783D PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.E783D(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTAGTGAAGAGAGCTGTGAGA 0.507000 66 40 0 0 0.870114 0 0 SLC12A4 6560 broad.mit.edu 37 16 68002416 68002416 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:68002416C>T ENST00000422611.2 - 1 181 c.142G>A c.(142-144)Gcg>Acg p.A48T SLC12A4_ENST00000572010.1_Intron|SLC12A4_ENST00000338335.3_Missense_Mutation_p.R14H|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R14H|SLC12A4_ENST00000572037.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R14H NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 0 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity p.R14H(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) ATAGTCGCCGCGCCTCGGCCC 0.736000 13 12 0 0 0.457914 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962880 69962880 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:69962880G>A ENST00000305231.7 + 1 688 c.642G>A c.(640-642)atG>atA p.M214I UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.M214I NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 214 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.M214I(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TAAAAAATATGATCTATGTGC 0.333000 45 49 0 0 0.859065 0 0 SLC45A2 51151 broad.mit.edu 37 5 33982488 33982488 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:33982488C>G ENST00000382102.3 - 2 472 c.415G>C c.(415-417)Gtt>Ctt p.V139L SLC45A2_ENST00000296589.4_Missense_Mutation_p.V139L|SLC45A2_ENST00000509381.1_Missense_Mutation_p.V139L|SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000345083.5_Missense_Mutation_p.V139L NM_001012509.2 NP_001012527.1 Q9UMX9 S45A2_HUMAN solute carrier family 45, member 2 139 melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.V139L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 ATGGCCCAAACCAGCTTCCTC 0.413000 8 32 0 0 0.278610 0 0 OVCH1 341350 broad.mit.edu 37 12 29614942 29614942 + Splice_Site SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:29614942C>G ENST00000318184.5 - 19 2125 c.e19-1 OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity p.?(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) AGGCCACCATCTAATGAAGAA 0.428000 62 90 0 0 0.870114 0 0 SCN3A 6328 broad.mit.edu 37 2 165953895 165953895 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:165953895G>T ENST00000360093.3 - 23 4597 c.4106C>A c.(4105-4107)aCg>aAg p.T1369K SCN3A_ENST00000283254.7_Missense_Mutation_p.T1369K|SCN3A_ENST00000409101.3_Missense_Mutation_p.T1320K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1369 voltage-gated sodium channel complex voltage-gated sodium channel activity p.T1369K(1)|p.T1320K(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) CATGTTACCCGTTGTCATGTT 0.403000 18 54 1.33834e-09 1.62433e-09 0.557998 1 0 RGS13 6003 broad.mit.edu 37 1 192613467 192613467 + Translation_Start_Site SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:192613467G>C ENST00000391995.2 + 4 291 c.3G>C c.(1-3)atG>atC p.M1I RGS13_ENST00000543215.1_Start_Codon_SNP_p.M1I NM_002927.4 NP_002918.1 O14921 RGS13_HUMAN regulator of G-protein signaling 13 1 plasma membrane GTPase activator activity|signal transducer activity p.M1I(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1) 19 TTAGAAAAATGAGCAGGCGGA 0.294000 22 80 0 0 0.624587 0 0 GLDC 2731 broad.mit.edu 37 9 6602161 6602161 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:6602161C>T ENST00000321612.6 - 8 1253 c.1103G>A c.(1102-1104)aGg>aAg p.R368K NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 368 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.R368K(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GTGTTGCTCCCTGGTTTGAAG 0.473000 42 15 0 0 0.859065 0 0 PICALM 8301 broad.mit.edu 37 11 85722156 85722156 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:85722156T>C ENST00000526033.1 - 7 998 c.682A>G c.(682-684)Aac>Gac p.N228D PICALM_ENST00000393346.3_Missense_Mutation_p.N228D|PICALM_ENST00000356360.5_Missense_Mutation_p.N228D|PICALM_ENST00000532317.1_Missense_Mutation_p.N228D|PICALM_ENST00000528398.1_Missense_Mutation_p.N177D NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 228 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding p.N228D(1) endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TTGCATTGGTTCTTTTTCATA 0.294000 T """MLLT10, MLL""" """TALL, AML, """ 7 37 0 0 0.248553 0 0 LRRK1 79705 broad.mit.edu 37 15 101597147 101597147 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:101597147C>A ENST00000284395.5 + 29 4810 c.4410C>A c.(4408-4410)gcC>gcA p.A1470A RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Silent_p.A1473A Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1473 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A1485A(1)|p.A1473A(1) breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCAGATTGCCAAGAAGCTGT 0.597000 25 54 4.72057e-08 5.44681e-08 0.667858 1 0 CDH7 1005 broad.mit.edu 37 18 63548088 63548088 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:63548088C>A ENST00000397968.2 + 12 2742 c.2316C>A c.(2314-2316)ctC>ctA p.L772L CDH7_ENST00000323011.3_Silent_p.L772L NM_004361.2 NP_004352.2 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 772 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L772L(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TTAAACGACTCGCGGACATGT 0.413000 22 51 6.33239e-15 8.57511e-15 0.592651 1 0 NOXO1 124056 broad.mit.edu 37 16 2030675 2030675 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:2030675C>T ENST00000354249.4 - 3 571 c.202G>A c.(202-204)Gtt>Att p.V68I NOXO1_ENST00000566005.1_Missense_Mutation_p.V68I|NOXO1_ENST00000356120.4_Missense_Mutation_p.V69I|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000397280.4_Missense_Mutation_p.V69I NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2 NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1 Q8NFA2 NOXO1_HUMAN NADPH oxidase organizer 1 69 PX. cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst NADPH oxidase complex enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity p.V69I(1) lung(2) 2 TTTGGGAGAACGCGGTCAGAT 0.667000 6 3 0 0 0.217242 0 0 ALG10 84920 broad.mit.edu 37 12 34179132 34179132 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:34179132A>T ENST00000266483.2 + 3 1023 c.704A>T c.(703-705)cAg>cTg p.Q235L ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA NM_032834.3 NP_116223.3 Q5BKT4 AG10A_HUMAN ALG10, alpha-1,2-glucosyltransferase 235 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity p.Q235L(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) AAAATTCTTCAGTTTCTTTTG 0.383000 49 143 0 0 0.870114 0 0 OR4X1 390113 broad.mit.edu 37 11 48286048 48286048 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:48286048G>A ENST00000320048.1 + 1 636 c.636G>A c.(634-636)ctG>ctA p.L212L NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L212L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 TCTTCGTGCTGATGGCTTCCT 0.562000 11 23 0 0 0.361761 0 0 TSPAN10 83882 broad.mit.edu 37 17 79612619 79612619 + RNA SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:79612619G>T ENST00000328585.4 + 0 728 TSPAN10_ENST00000572675.1_RNA NM_031945.3 NP_114151.3 Q9H1Z9 TSN10_HUMAN tetraspanin 10 integral to membrane p.C213L(1) ovary(1) 1 all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) CTGAGGTGCTGCGGAGCTGCC 0.657000 6 9 0.0293803 0.0297877 0.248553 1 0 PLXDC1 57125 broad.mit.edu 37 17 37226180 37226180 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:37226180C>A ENST00000315392.4 - 13 1523 c.1312G>T c.(1312-1314)Gcg>Tcg p.A438S PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.A398S|CTD-2206N4.4_ENST00000583447.1_RNA|PLXDC1_ENST00000539608.1_3'UTR NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 438 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction p.A438S(1) kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ATGATGGCCGCCACGAGGAGG 0.592000 OREG0024368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 43 5.61819e-17 7.82533e-17 0.693898 1 0 ADAM33 80332 broad.mit.edu 37 20 3652068 3652068 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:3652068C>A ENST00000356518.2 - 17 2222 c.1981G>T c.(1981-1983)Ggg>Tgg p.G661W ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.G661W|ADAM33_ENST00000350009.2_Intron NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 661 EGF-like. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.G661W(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 GCTCTCACCCCGTGGCTGTGG 0.602000 49 82 6.56871e-35 1.03577e-34 0.870114 1 0 SMAD4 4089 broad.mit.edu 37 18 48573354 48573354 + Silent SNP A A C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:48573354A>C ENST00000590722.2 + 3 326 c.222A>C c.(220-222)ccA>ccC p.P74P SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR|SMAD4_ENST00000398417.2_5'UTR CACTGTTTCCAAAGGATCAAA 0.303000 11 11 0 0 0.387290 0 0 MEOX2 4223 broad.mit.edu 37 7 15652076 15652076 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:15652076C>T ENST00000262041.5 - 3 1260 c.851G>A c.(850-852)gGg>gAg p.G284E NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 284 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G284E(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TATAGAGTCCCCTGTTTGCTG 0.507000 30 104 0 0 0.769981 0 0 OR4M1 441670 broad.mit.edu 37 14 20248812 20248812 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:20248812G>A ENST00000315957.4 + 1 412 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E111K(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGGCTTCGGAGATGTTCTT 0.478000 85 651 0 0 0.870114 0 0 GPR112 139378 broad.mit.edu 37 X 135438316 135438316 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:135438316C>A ENST00000394143.1 + 9 7210 c.6919C>A c.(6919-6921)Cga>Aga p.R2307R GPR112_ENST00000370652.1_Silent_p.R2307R|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000412101.1_Silent_p.R2102R|GPR112_ENST00000394141.1_Silent_p.R2102R NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 2307 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.R2307R(3) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GGTCATGGATCGAGCTATTGT 0.343000 22 8 9.80776e-20 1.40971e-19 0.706142 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140740006 140740006 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:140740006T>A ENST00000522605.1 + 1 304 c.304T>A c.(304-306)Tgt>Agt p.C102S PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.C102S(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCTCTGTGTGTTCTGGA 0.413000 55 34 0 0 0.870114 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68780441 68780441 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:68780441G>A ENST00000508048.1 - 9 992 c.957C>T c.(955-957)tcC>tcT p.S319S TMPRSS11A_ENST00000334830.7_Silent_p.S323S|TMPRSS11A_ENST00000396188.2_Silent_p.S320S|RP11-453E17.1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 323 Peptidase S1. cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.S323S(1) breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 GATCATTTTGGGATTCCCCTT 0.373000 33 99 0 0 0.796494 0 0 MMEL1 79258 broad.mit.edu 37 1 2530196 2530196 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:2530196G>T ENST00000288709.6 - 12 1288 c.1048C>A c.(1048-1050)Cta>Ata p.L350I MMEL1_ENST00000502556.1_Missense_Mutation_p.L202I|MMEL1_ENST00000378412.3_Missense_Mutation_p.L359I NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 359 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity p.L350I(1)|p.L350V(1) cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) ACAGAGGATAGCACAGTTTGT 0.483000 15 22 6.31663e-08 7.25978e-08 0.479597 1 0 OR8J1 219477 broad.mit.edu 37 11 56128532 56128532 + Silent SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:56128532T>A ENST00000303039.3 + 1 842 c.810T>A c.(808-810)acT>acA p.T270T NM_001005205.2 NP_001005205.2 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, member 1 270 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T270T(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 47 Esophageal squamous(21;0.00448) CACTGGATACTGATGATAAGA 0.418000 29 115 0 0 0.760397 0 0 CA10 56934 broad.mit.edu 37 17 49713356 49713356 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:49713356G>T ENST00000451037.2 - 7 1589 c.649C>A c.(649-651)Cta>Ata p.L217I CA10_ENST00000442502.2_Missense_Mutation_p.L217I|CA10_ENST00000285273.4_Missense_Mutation_p.L217I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.L223I|CA10_ENST00000570565.1_Missense_Mutation_p.L142I NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 217 brain development p.L217I(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) AGCCCCTGTAGTAAATATGCA 0.383000 37 60 8.16277e-20 1.17616e-19 0.827153 1 0 RNF207 388591 broad.mit.edu 37 1 6266722 6266722 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:6266722G>C ENST00000377939.4 + 2 254 c.127G>C c.(127-129)Gac>Cac p.D43H RNF207_ENST00000377948.2_5'UTR NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 43 intracellular zinc ion binding p.D43H(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2) 16 Ovarian(185;0.0634) all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) CTGTTTCCACGACTTCTGTGC 0.682000 22 23 0 0 0.654019 0 0 EYA1 2138 broad.mit.edu 37 8 72127688 72127688 + Nonsense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:72127688T>A ENST00000340726.3 - 16 2170 c.1531A>T c.(1531-1533)Aaa>Taa p.K511* EYA1_ENST00000303824.7_Nonsense_Mutation_p.K505*|EYA1_ENST00000388740.3_Nonsense_Mutation_p.K478*|EYA1_ENST00000388741.2_Nonsense_Mutation_p.K477*|EYA1_ENST00000388742.4_Nonsense_Mutation_p.K511*|EYA1_ENST00000388743.2_Nonsense_Mutation_p.K510*|EYA1_ENST00000419131.1_Nonsense_Mutation_p.K476* NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 511 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity p.K511*(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) AGCAGGACTTTCGCCAATGCT 0.338000 24 85 0 0 0.667858 0 0 TMEM200A 114801 broad.mit.edu 37 6 130761972 130761972 + Silent SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:130761972T>A ENST00000392429.1 + 2 2783 c.405T>A c.(403-405)atT>atA p.I135I TMEM200A_ENST00000296978.3_Silent_p.I135I|TMEM200A_ENST00000545622.1_Silent_p.I135I NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 135 integral to membrane p.I135I(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CCATGGGGATTGGCATTTTCA 0.423000 22 62 0 0 0.592651 0 0 ATRNL1 26033 broad.mit.edu 37 10 117704234 117704234 + Missense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:117704234A>T ENST00000355044.3 + 29 4210 c.4084A>T c.(4084-4086)Act>Tct p.T1362S ATRNL1_ENST00000303745.7_Missense_Mutation_p.T155S|ATRNL1_ENST00000423111.2_Missense_Mutation_p.T413S NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1362 integral to membrane sugar binding p.T1362S(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) TAAAGATAAGACTTCTGGAGT 0.408000 4 76 0 0 0.150653 0 0 BUB1B 701 broad.mit.edu 37 15 40512823 40512823 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:40512823G>A ENST00000287598.6 + 23 3211 c.3016G>A c.(3016-3018)Gag>Aag p.E1006K RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000441369.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E1020K NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 1006 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity p.E1006K(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TGCCAATGATGAGGCCACAGT 0.398000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 35 76 0 0 0.796494 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747367 62747367 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:62747367C>G ENST00000377871.3 - 7 1357 c.1091G>C c.(1090-1092)gGa>gCa p.G364A SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.G364A|SLC22A6_ENST00000421062.2_Missense_Mutation_p.G364A|SLC22A6_ENST00000360421.4_Missense_Mutation_p.G364A NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 364 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.G364A(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GATGCTGACTCCAAAGCCCTG 0.532000 17 50 0 0 0.557998 0 0 IGFL1 374918 broad.mit.edu 37 19 46733709 46733709 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:46733709C>A ENST00000437936.1 + 3 281 c.258C>A c.(256-258)ttC>ttA p.F86L NM_198541.1 NP_940943.1 Q6UW32 IGFL1_HUMAN IGF-like family member 1 86 extracellular space protein binding p.F86L(1) lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) CCTGGACCTTCATGGTGAAGC 0.577000 72 32 1.2582e-26 1.91679e-26 0.870114 1 0 SCN2A 6326 broad.mit.edu 37 2 166245307 166245307 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:166245307G>A ENST00000375437.2 + 27 5281 c.4991G>A c.(4990-4992)gGc>gAc p.G1664D SCN2A_ENST00000283256.6_Missense_Mutation_p.G1664D|SCN2A_ENST00000375427.2_Missense_Mutation_p.G1664D|SCN2A_ENST00000357398.3_Missense_Mutation_p.G1664D NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1664 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.G1664D(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTTAACATCGGCCTCCTTCTT 0.478000 18 71 0 0 0.520397 0 0 CCDC73 493860 broad.mit.edu 37 11 32657332 32657332 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:32657332T>A ENST00000335185.5 - 14 1138 c.1095A>T c.(1093-1095)ttA>ttT p.L365F CCDC73_ENST00000534415.1_5'UTR NM_001008391.2 NP_001008392.2 Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 365 p.L365F(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TAAGGGATGATAATTCATTTT 0.229000 10 18 0 0 0.335167 0 0 ASPM 259266 broad.mit.edu 37 1 197111524 197111524 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:197111524C>G ENST00000367409.4 - 3 2114 c.1858G>C c.(1858-1860)Gtg>Ctg p.V620L ASPM_ENST00000294732.7_Missense_Mutation_p.V620L NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 620 mitosis cytoplasm|nucleus calmodulin binding p.V620L(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GGTGTTGTCACATTTTTTGTT 0.353000 53 174 0 0 0.870114 0 0 C22orf31 25770 broad.mit.edu 37 22 29454768 29454768 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr22:29454768C>G ENST00000216071.4 - 3 886 c.835G>C c.(835-837)Gta>Cta p.V279L NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 279 p.V279L(1) cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 TTCTTGAGTACAGGCTCCTCG 0.478000 25 69 0 0 0.706142 0 0 GJA5 2702 broad.mit.edu 37 1 147231223 147231223 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:147231223C>G ENST00000271348.2 - 2 285 c.124G>C c.(124-126)Gag>Cag p.E42Q GJA5_ENST00000369237.1_Missense_Mutation_p.E42Q NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 42 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane p.E42Q(1) breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) CAGGAAGACTCAGCAGCTGTG 0.547000 21 51 0 0 0.608945 0 0 CD38 952 broad.mit.edu 37 4 15780139 15780139 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:15780139C>A ENST00000226279.2 + 1 239 c.102C>A c.(100-102)atC>atA p.I34I NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 34 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity p.I34I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 TGGTCCTGATCCTCGTCGTGG 0.667000 35 99 3.09479e-21 4.56033e-21 0.827153 1 0 ABCB11 8647 broad.mit.edu 37 2 169869891 169869891 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:169869891C>T ENST00000263817.6 - 5 404 c.280G>A c.(280-282)Gac>Aac p.D94N NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 94 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.D94N(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) AACTCAACGTCGTAGTCAATA 0.428000 48 145 0 0 0.870114 0 0 NLRP14 338323 broad.mit.edu 37 11 7083652 7083652 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:7083652G>T ENST00000299481.4 + 10 3239 c.2893G>T c.(2893-2895)Ggg>Tgg p.G965W NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 965 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.G965W(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CCTGGACCTTGGGAACAACGA 0.423000 17 59 1.02788e-11 1.29593e-11 0.520397 1 0 DNER 92737 broad.mit.edu 37 2 230456401 230456401 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:230456401C>T ENST00000341772.4 - 2 614 c.480G>A c.(478-480)caG>caA p.Q160Q NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 160 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.Q160Q(1) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TGTCAGGCTCCTGAGTAGCAG 0.552000 17 30 0 0 0.500413 0 0 OR51G2 81282 broad.mit.edu 37 11 4936466 4936466 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:4936466T>A ENST00000322013.3 - 1 456 c.428A>T c.(427-429)aAc>aTc p.N143I MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005238.1 NP_001005238.1 Q8NGK0 O51G2_HUMAN olfactory receptor, family 51, subfamily G, member 2 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N143I(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGACTGTGTTGGTGAGAAT 0.493000 5 18 0 0 0.184627 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353979 45353979 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:45353979G>T ENST00000359271.2 + 2 554 c.304G>T c.(304-306)Gtc>Ttc p.V102F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 102 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity p.V102F(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GGCCTGGCTGGTCCTGGGCCG 0.642000 15 54 2.32078e-09 2.79354e-09 0.479597 1 0 OR8K5 219453 broad.mit.edu 37 11 55927735 55927735 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:55927735C>G ENST00000313447.1 - 1 58 c.59G>C c.(58-60)cGg>cCg p.R20P NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R20P(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAGCTCAGGCCGCCTTGTGAG 0.443000 20 74 0 0 0.624587 0 0 ITGA2 3673 broad.mit.edu 37 5 52361674 52361674 + Missense_Mutation SNP A A C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:52361674A>C ENST00000296585.5 + 15 1953 c.1810A>C c.(1810-1812)Atc>Ctc p.I604L NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 604 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity p.I604L(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) CTTTTAGAAAATCTTGGGATC 0.403000 19 41 0 0 0.608945 0 0 TESK2 10420 broad.mit.edu 37 1 45923457 45923457 + Translation_Start_Site SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:45923457T>C ENST00000372086.3 - 2 401 c.1A>G c.(1-3)Atg>Gtg p.M1V TESK2_ENST00000341771.6_Start_Codon_SNP_p.M1V|TESK2_ENST00000538496.1_Intron|TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000451835.2_Start_Codon_SNP_p.M1V|TESK2_ENST00000372084.1_Start_Codon_SNP_p.M1V NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 1 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.M1V(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) CTCCGATCCATAGTCTAAATA 0.388000 9 28 0 0 0.335167 0 0 KIF2B 84643 broad.mit.edu 37 17 51900706 51900706 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:51900706G>T ENST00000268919.4 + 1 468 c.312G>T c.(310-312)tcG>tcT p.S104S NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 104 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.S104S(1) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGCCCTCTTCGGCCATCAGGG 0.612000 56 74 2.81305e-35 4.44766e-35 0.870114 1 0 HEATR1 55127 broad.mit.edu 37 1 236760239 236760239 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:236760239C>A ENST00000366582.3 - 6 755 c.641G>T c.(640-642)aGg>aTg p.R214M HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Missense_Mutation_p.R214M NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 214 rRNA processing nucleolus|ribonucleoprotein complex protein binding p.R214M(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CAAGAGCACCCTCAACTGAGC 0.458000 43 45 1.86277e-20 2.7243e-20 0.870114 1 0 LMBRD1 55788 broad.mit.edu 37 6 70386117 70386117 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:70386117G>T ENST00000370577.3 - 16 1785 c.1556C>A c.(1555-1557)tCg>tAg p.S519* LMBRD1_ENST00000370570.1_Nonsense_Mutation_p.S446* NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 519 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding p.S519*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TTCAATAACCGATTTCTTCCC 0.323000 5 45 1.23904e-05 1.34478e-05 0.184627 1 0 RANBP10 57610 broad.mit.edu 37 16 67761665 67761665 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:67761665C>G ENST00000317506.3 - 12 1724 c.1609G>C c.(1609-1611)Gag>Cag p.E537Q RANBP10_ENST00000602677.1_Missense_Mutation_p.E567Q|RANBP10_ENST00000536251.1_Missense_Mutation_p.E308Q|RANBP10_ENST00000448631.2_Missense_Mutation_p.E511Q|RANBP10_ENST00000411657.2_Missense_Mutation_p.E450Q NM_020850.1 NP_065901.1 Q6VN20 RBP10_HUMAN RAN binding protein 10 537 p.E537Q(1) endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1) 23 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) TGCAGCATCTCTGTGTGGGCC 0.602000 13 33 0 0 0.411799 0 0 COL24A1 255631 broad.mit.edu 37 1 86524848 86524848 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:86524848C>T ENST00000370571.2 - 9 2128 c.1762G>A c.(1762-1764)Gga>Aga p.G588R COL24A1_ENST00000436319.1_Missense_Mutation_p.G588R NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 588 Collagen-like 2. cell adhesion collagen extracellular matrix structural constituent p.G588R(1) NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) CCAGCAAATCCTGGAATTCCC 0.333000 9 26 0 0 0.435327 0 0 FAM209B 388799 broad.mit.edu 37 20 55108465 55108465 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:55108465C>G ENST00000371325.1 + 1 164 c.68C>G c.(67-69)tCt>tGt p.S23C NM_001013646.2 NP_001013668.2 Q5JX69 CT107_HUMAN family with sequence similarity 209, member B 23 integral to membrane p.S23F(1)|p.S23C(1) TTTATGTTCTCTTCTCTGAGA 0.552000 30 112 0 0 0.796494 0 0 FSIP2 401024 broad.mit.edu 37 2 186673345 186673345 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:186673345G>A ENST00000343098.5 + 17 19579 c.19579G>A c.(19579-19581)Gaa>Aaa p.E6527K FSIP2_ENST00000424728.1_Missense_Mutation_p.E6438K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 p.E1136K(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 AACCAACAAAGAATTTTATTA 0.303000 9 54 0 0 0.335167 0 0 TRPV6 55503 broad.mit.edu 37 7 142569542 142569542 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:142569542C>G ENST00000359396.3 - 15 2341 c.2096G>C c.(2095-2097)cGg>cCg p.R699P NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 699 Interaction with calmodulin. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.R699P(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GGTCCCTTGCCGAAGCCTTTC 0.577000 9 53 0 0 0.361761 0 0 INSC 387755 broad.mit.edu 37 11 15199882 15199882 + Silent SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:15199882T>A ENST00000379554.3 + 5 655 c.609T>A c.(607-609)gtT>gtA p.V203V INSC_ENST00000379556.3_Silent_p.V156V|INSC_ENST00000530161.1_Silent_p.V156V|INSC_ENST00000528567.1_Silent_p.V156V|INSC_ENST00000424273.1_Silent_p.V156V|INSC_ENST00000525218.1_Silent_p.V156V NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 203 cell differentiation|nervous system development cytoplasm binding p.V203V(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GCCTTCAGGTTGAGAATGAGC 0.572000 8 23 0 0 0.307466 0 0 NUP93 9688 broad.mit.edu 37 16 56855440 56855440 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:56855440G>T ENST00000564887.1 + 5 849 c.220G>T c.(220-222)Gta>Tta p.V74L NUP93_ENST00000542526.1_Missense_Mutation_p.V74L|NUP93_ENST00000308159.5_Missense_Mutation_p.V197L|NUP93_ENST00000569842.1_Missense_Mutation_p.V197L NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 197 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.V197L(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TGAGAAAATTGTAAATGGACA 0.403000 18 54 0.000175454 0.000186619 0.592651 1 0 NFIB 4781 broad.mit.edu 37 9 14146719 14146719 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:14146719A>T ENST00000380959.3 - 6 1367 c.894T>A c.(892-894)gcT>gcA p.A298A NFIB_ENST00000397579.2_Silent_p.A298A|NFIB_ENST00000380953.1_Silent_p.A298A|NFIB_ENST00000397575.3_Silent_p.A298A|NFIB_ENST00000380934.4_Silent_p.A324A|NFIB_ENST00000543693.1_Silent_p.A46A|NFIB_ENST00000380924.1_Silent_p.A46A|NFIB_ENST00000397581.2_Silent_p.A298A NM_005596.3 NP_005587.2 O00712 NFIB_HUMAN nuclear factor I/B 298 anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity p.A298A(2) central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) TTCGACTTCCAGCAGCTGGTG 0.413000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 42 22 0 0 0.834066 0 0 YY1AP1 55249 broad.mit.edu 37 1 155642500 155642500 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:155642500T>C ENST00000368340.5 - 6 956 c.848A>G c.(847-849)cAa>cGa p.Q283R YY1AP1_ENST00000361831.5_Missense_Mutation_p.Q134R|YY1AP1_ENST00000295566.4_Missense_Mutation_p.Q211R|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000438245.2_Missense_Mutation_p.Q145R|YY1AP1_ENST00000405763.3_Missense_Mutation_p.Q283R|YY1AP1_ENST00000407221.1_Missense_Mutation_p.Q134R|YY1AP1_ENST00000404643.1_Missense_Mutation_p.Q145R|YY1AP1_ENST00000368330.2_Missense_Mutation_p.Q145R|YY1AP1_ENST00000355499.4_Missense_Mutation_p.Q145R|YY1AP1_ENST00000368339.5_Missense_Mutation_p.Q283R|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.Q145R|YY1AP1_ENST00000535662.1_Missense_Mutation_p.Q11R|YY1AP1_ENST00000359205.5_Missense_Mutation_p.Q134R|YY1AP1_ENST00000311573.5_Missense_Mutation_p.Q134R|MSTO1_ENST00000452804.2_Intron NM_001198904.1 NP_001185833.1 YY1 associated protein 1 p.Q283R(1)|p.Q211R(1) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) GATGGAGCTTTGAGCAAAGGT 0.448000 12 45 0 0 0.539581 0 0 TEKT5 146279 broad.mit.edu 37 16 10721632 10721632 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:10721632G>A ENST00000283025.2 - 7 1337 c.1266C>T c.(1264-1266)atC>atT p.I422I TEKT5_ENST00000574923.1_5'UTR NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 422 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.I422I(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 GGGTGTCGTCGATGGTGAACA 0.547000 6 13 0 0 0.248553 0 0 SPDEF 25803 broad.mit.edu 37 6 34508806 34508806 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:34508806G>A ENST00000374037.3 - 3 1003 c.589C>T c.(589-591)Ctg>Ttg p.L197L SPDEF_ENST00000544425.1_Silent_p.L197L NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 197 PNT. negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L197L(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 TCCCCACCCAGGGGCGAGCGC 0.677000 6 22 0 0 0.307466 0 0 VTA1 51534 broad.mit.edu 37 6 142491482 142491482 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:142491482G>T ENST00000367630.4 + 4 393 c.e4-1 VTA1_ENST00000491881.1_Intron|VTA1_ENST00000452973.2_Splice_Site|VTA1_ENST00000367621.1_Splice_Site NM_016485.3 NP_057569.2 Q9NP79 VTA1_HUMAN vesicle (multivesicular body) trafficking 1 cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding p.?(1) endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) TTCTCTTCCAGAAACATGATC 0.308000 29 122 8.16721e-17 1.13218e-16 0.750413 1 0 OR2F2 135948 broad.mit.edu 37 7 143632997 143632997 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:143632997C>A ENST00000408955.2 + 1 739 c.672C>A c.(670-672)acC>acA p.T224T NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T224K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCATCTCCACCATCCTAAAGA 0.507000 27 28 1.77063e-15 2.40329e-15 0.693898 1 0 GDAP1L1 78997 broad.mit.edu 37 20 42907638 42907638 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:42907638C>A ENST00000342560.5 + 6 890 c.802C>A c.(802-804)Ctc>Atc p.L268I GDAP1L1_ENST00000537864.1_Missense_Mutation_p.L76I NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 268 GST C-terminal. p.L268I(1) endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) TGCCTTCACCCTCGCTGATGT 0.582000 20 69 2.21704e-12 2.85047e-12 0.639603 1 0 FAM120AOS 158293 broad.mit.edu 37 9 96214681 96214681 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:96214681G>T ENST00000375412.5 - 1 1193 c.311C>A c.(310-312)cCc>cAc p.P104H FAM120A_ENST00000277165.6_Intron|FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000375389.3_Intron|FAM120A_ENST00000333936.5_Intron NM_198841.2 NP_942138.2 Q5T036 F120S_HUMAN family with sequence similarity 120A opposite strand 104 Arg-rich. p.P104H(1)|p.?(1) kidney(1)|large_intestine(1)|lung(3)|skin(1) 6 GGTGAGGCCGGGGATccgggc 0.746000 9 4 0.000673444 0.000707298 0.361761 1 0 CSMD3 114788 broad.mit.edu 37 8 113420573 113420573 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:113420573G>T ENST00000297405.5 - 34 5823 c.5579C>A c.(5578-5580)gCt>gAt p.A1860D CSMD3_ENST00000343508.3_Missense_Mutation_p.A1820D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A1756D|CSMD3_ENST00000352409.3_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1860 CUB 10. integral to membrane|plasma membrane p.A1860G(1)|p.A1860D(1)|p.A1820G(1)|p.A1820D(1) 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 AAATCCCTTAGCTGTTATTGG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 56 84 8.4772e-36 1.35127e-35 0.870114 1 0 DUSP14 11072 broad.mit.edu 37 17 35872430 35872430 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:35872430T>C ENST00000487847.1 + 2 1034 c.56T>C c.(55-57)aTt>aCt p.I19T DUSP14_ENST00000394389.4_Missense_Mutation_p.I19T|DUSP14_ENST00000394386.1_Missense_Mutation_p.I19T O95147 DUS14_HUMAN dual specificity phosphatase 14 19 MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity p.I19T(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1) 9 Breast(25;0.00637)|Ovarian(249;0.15) CCTCGGATGATTTCCGAGGGA 0.582000 4 39 0 0 0.150653 0 0 CYP3A5 1577 broad.mit.edu 37 7 99261603 99261603 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:99261603G>A ENST00000343703.5 - 9 1142 c.756C>T c.(754-756)aaC>aaT p.N252N CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.N262N cytochrome P450, family 3, subfamily A, polypeptide 5 p.N262N(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166) TTTGTTTGTCGTTGAGGCGAC 0.299000 8 56 0 0 0.307466 0 0 KIAA1211 57482 broad.mit.edu 37 4 57173832 57173832 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:57173832G>T ENST00000504228.1 + 3 357 c.252G>T c.(250-252)caG>caT p.Q84H KIAA1211_ENST00000541073.1_Missense_Mutation_p.Q77H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.Q84H Q6ZU35 K1211_HUMAN KIAA1211 84 p.Q84H(1) endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TTGTGACTCAGCAGGACATCG 0.512000 19 32 5.3912e-06 5.91718e-06 0.539581 1 0 SEC31B 25956 broad.mit.edu 37 10 102256931 102256931 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:102256931C>A ENST00000370345.3 - 17 2194 c.2097G>T c.(2095-2097)tgG>tgT p.W699C NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 699 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane p.W699_A700>CS(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GGCATTTTGCCCAGCACTCCA 0.607000 16 25 6.94344e-10 8.46232e-10 0.539581 1 0 ARHGAP5 394 broad.mit.edu 37 14 32563472 32563472 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:32563472A>T ENST00000345122.3 + 2 3912 c.3597A>T c.(3595-3597)ccA>ccT p.P1199P ARHGAP5_ENST00000539826.2_Silent_p.P1199P|ARHGAP5_ENST00000432921.1_Silent_p.P1199P|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.P1199P NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1199 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding p.P1199P(1) NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAGAAGATCCACTTCTTTCTC 0.388000 51 77 0 0 0.870114 0 0 IVD 3712 broad.mit.edu 37 15 40707610 40707610 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr15:40707610G>A ENST00000249760.2 + 9 1232 c.889G>A c.(889-891)Gcg>Acg p.A297T IVD_ENST00000479013.2_Missense_Mutation_p.A270T|IVD_ENST00000487418.2_Missense_Mutation_p.A300T NM_002225.3 NP_002216.2 P26440 IVD_HUMAN isovaleryl-CoA dehydrogenase 297 leucine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity p.A297T(1) kidney(1)|lung(5)|ovary(2)|prostate(1) 9 all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808) GCTCATGCAAGCGGTCCTGGA 0.592000 10 23 0 0 0.361761 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175820 143175820 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:143175820C>T ENST00000408916.1 + 1 855 c.855C>T c.(853-855)ttC>ttT p.F285F EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 285 sensory perception of taste integral to membrane G-protein coupled receptor activity p.F285F(1) endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) TCCTCATCTTCAGCAACCTCA 0.502000 8 40 0 0 0.278610 0 0 RGS3 5998 broad.mit.edu 37 9 116224430 116224430 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:116224430C>G ENST00000374140.2 + 4 573 c.364C>G c.(364-366)Caa>Gaa p.Q122E RGS3_ENST00000350696.5_Missense_Mutation_p.Q122E NM_144488.4 NP_652759.3 P49796 RGS3_HUMAN regulator of G-protein signaling 3 122 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity p.Q18E(1)|p.Q122E(1) cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TGAGTGGACTCAAACTTCTCC 0.547000 14 28 0 0 0.500413 0 0 MASP1 5648 broad.mit.edu 37 3 186974520 186974520 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr3:186974520G>T ENST00000337774.5 - 5 1065 c.676C>A c.(676-678)Ctg>Atg p.L226M MASP1_ENST00000296280.6_Missense_Mutation_p.L226M|MASP1_ENST00000392470.2_Missense_Mutation_p.L200M|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.L226M|MASP1_ENST00000392472.2_Missense_Mutation_p.L113M NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 226 CUB 2.|Interaction with FCN2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.L226M(3) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) TCAAACTGCAGGTTGACCATG 0.517000 34 19 4.02929e-09 4.83019e-09 0.750413 1 0 CCM2L 140706 broad.mit.edu 37 20 30602724 30602724 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:30602724C>A ENST00000300415.8 + 2 61 c.48C>A c.(46-48)atC>atA p.I16I CCM2L_ENST00000262659.8_Silent_p.I16I cerebral cavernous malformation 2-like p.I16I(2) TATCCCCCATCCGAAGGCTGG 0.577000 48 123 1.19451e-25 1.81504e-25 0.870114 1 0 PRDM4 11108 broad.mit.edu 37 12 108145425 108145425 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:108145425G>C ENST00000228437.5 - 5 1352 c.893C>G c.(892-894)tCt>tGt p.S298C RP11-864J10.4_ENST00000546714.1_RNA NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 298 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding p.S298C(1) biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 CACGCTTACAGAGTTGGTGCT 0.542000 12 34 0 0 0.435327 0 0 DIP2A 23181 broad.mit.edu 37 21 47957423 47957423 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr21:47957423C>A ENST00000318711.7 + 15 1958 c.1775C>A c.(1774-1776)tCc>tAc p.S592Y DIP2A_ENST00000400274.1_Missense_Mutation_p.S587Y|DIP2A_ENST00000457905.3_Missense_Mutation_p.S591Y|DIP2A_ENST00000427143.2_Missense_Mutation_p.S527Y|DIP2A_ENST00000417564.2_Missense_Mutation_p.S591Y|DIP2A_ENST00000435722.3_Missense_Mutation_p.S591Y|DIP2A_ENST00000466639.1_Missense_Mutation_p.S548Y NM_001146116.1|NM_015151.3 NP_001139588.1|NP_055966.2 Q14689 DIP2A_HUMAN DIP2 disco-interacting protein 2 homolog A (Drosophila) 591 multicellular organismal development nucleus catalytic activity|transcription factor binding p.S527Y(1)|p.S591Y(1)|p.S592Y(1) cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AACCCACTCTCCTGGATCCAG 0.537000 20 51 1.01871e-10 1.25993e-10 0.575678 1 0 SOX3 6658 broad.mit.edu 37 X 139586803 139586803 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:139586803C>A ENST00000370536.2 - 1 422 c.423G>T c.(421-423)cgG>cgT p.R141R NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 141 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding p.R141R(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) CGTTCATGGGCCGTTTCACAC 0.657000 20 10 1.96895e-08 2.29449e-08 0.639603 1 0 AOX1 316 broad.mit.edu 37 2 201523957 201523957 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:201523957C>A ENST00000374700.2 + 28 3482 c.3241C>A c.(3241-3243)Cct>Act p.P1081T AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 1081 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity p.P1081T(1) breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) AGAAACTGTCCCTAATGCAAA 0.453000 27 43 1.1804e-14 1.58379e-14 0.667858 1 0 GPC6 10082 broad.mit.edu 37 13 94482724 94482724 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:94482724C>A ENST00000377047.4 + 3 1252 c.637C>A c.(637-639)Cgc>Agc p.R213S GPC6-AS2_ENST00000445540.1_RNA NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 213 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.R213S(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TCAGGTTACCCGCGCCTTCAT 0.498000 22 10 5.35356e-11 6.64932e-11 0.639603 1 0 ANO2 57101 broad.mit.edu 37 12 5672696 5672696 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:5672696C>A ENST00000546188.1 - 26 2840 c.2769G>T c.(2767-2769)atG>atT p.M923I ANO2_ENST00000327087.8_Missense_Mutation_p.M922I|ANO2_ENST00000356134.5_Missense_Mutation_p.M923I Q9NQ90 ANO2_HUMAN anoctamin 2 927 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity p.M923I(1)|p.M922I(1) central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TGTCTGGAATCATCCAGTCCA 0.547000 29 19 4.3181e-19 6.13128e-19 0.769981 1 0 VPS13A 23230 broad.mit.edu 37 9 79933380 79933380 + Missense_Mutation SNP T T G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:79933380T>G ENST00000360280.3 + 41 5446 c.5186T>G c.(5185-5187)aTt>aGt p.I1729S VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.I1729S|VPS13A_ENST00000376634.4_Missense_Mutation_p.I1729S|VPS13A_ENST00000376636.3_Missense_Mutation_p.I1690S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1729 Golgi to endosome transport|protein transport intracellular protein binding p.I1729S(3) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATTGATTCTATTTTTATAGTT 0.368000 30 55 0 0 0.717897 0 0 SEMA4G 57715 broad.mit.edu 37 10 102739888 102739888 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:102739888G>A ENST00000210633.3 + 10 1216 c.1138G>A c.(1138-1140)Gat>Aat p.D380N SEMA4G_ENST00000517724.1_Missense_Mutation_p.D380N|SEMA4G_ENST00000370250.4_Missense_Mutation_p.D380N|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 380 Sema. cell differentiation|nervous system development integral to membrane receptor activity p.D380N(1) breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GTGTATCACAGATTCATTGCG 0.587000 3 26 0 0 0.115264 0 0 CST11 140880 broad.mit.edu 37 20 23433432 23433432 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:23433432C>A ENST00000377009.3 - 1 50 c.17G>T c.(16-18)tGg>tTg p.W6L CST11_ENST00000377007.3_Missense_Mutation_p.W6L NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 6 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity p.W6F(1) kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) TAGGGCCTGCCAGGGCTCAGC 0.537000 13 23 7.03913e-09 8.31897e-09 0.411799 1 0 LMOD1 25802 broad.mit.edu 37 1 201869186 201869186 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:201869186C>T ENST00000367288.4 - 2 1201 c.955G>A c.(955-957)Gat>Aat p.D319N NM_012134.2 NP_036266.2 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 319 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding p.D319N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AGAGGCTCATCAAATATGCTG 0.542000 7 25 0 0 0.278610 0 0 OR1N1 138883 broad.mit.edu 37 9 125288811 125288811 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:125288811G>A ENST00000304880.2 - 1 761 c.762C>T c.(760-762)ttC>ttT p.F254F NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F254F(1) breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GGTAGGCACTGAAGAGGGTCC 0.542000 12 13 0 0 0.435327 0 0 TMIGD1 388364 broad.mit.edu 37 17 28651849 28651849 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:28651849G>T ENST00000328886.4 - 4 697 c.625C>A c.(625-627)Cac>Aac p.H209N TMIGD1_ENST00000538566.2_Missense_Mutation_p.H209N NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 209 integral to membrane p.H209N(1) breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 ACAATCAGGTGAAAGTCCAAG 0.403000 51 85 6.08268e-21 8.91821e-21 0.870114 1 0 RREB1 6239 broad.mit.edu 37 6 7230139 7230139 + Nonsense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:7230139G>T ENST00000379938.2 + 10 2344 c.1807G>T c.(1807-1809)Gag>Tag p.E603* RREB1_ENST00000349384.6_Nonsense_Mutation_p.E603*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.E603*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.E603* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 603 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding p.E603*(2) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CAGCATCATCGAGGCCCTGCT 0.677000 7 25 2.7689e-08 3.22029e-08 0.248553 1 0 CCT4 10575 broad.mit.edu 37 2 62112193 62112193 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:62112193T>C ENST00000394440.3 - 2 438 c.142A>G c.(142-144)Att>Gtt p.I48V CCT4_ENST00000538252.1_5'UTR|CCT4_ENST00000544185.1_5'UTR|CCT4_ENST00000544079.1_Missense_Mutation_p.I48V|AC107081.5_ENST00000425779.1_RNA NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 48 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding p.I48V(1) breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) CTTGTTCTAATAGCATCAGCA 0.378000 16 47 0 0 0.520397 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605902 1605902 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:1605902G>T ENST00000382171.2 - 1 611 c.578C>A c.(577-579)tCc>tAc p.S193Y KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 193 8 X 4 AA repeats of C-C-X-P. keratin filament p.S193Y(2) endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 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) ACCCCCCTTGGATCCCCCACA 0.672000 9 15 2.27111e-07 2.57981e-07 0.411799 1 0 PLB1 151056 broad.mit.edu 37 2 28855876 28855876 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:28855876C>T ENST00000422425.2 + 55 4079 c.4035C>T c.(4033-4035)gcC>gcT p.A1345A PLB1_ENST00000541605.1_Silent_p.A321A|PLB1_ENST00000327757.5_Silent_p.A1356A NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 1356 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity p.A1345A(1)|p.A1356A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GCGGGCATGCCGAGATGGCCA 0.552000 16 44 0 0 0.520397 0 0 PCDH8 5100 broad.mit.edu 37 13 53418996 53418996 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:53418996C>A ENST00000377942.3 - 3 3115 c.2912G>T c.(2911-2913)gGg>gTg p.G971V PCDH8_ENST00000338862.4_Missense_Mutation_p.G874V NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 971 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding p.G971V(1) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TGCGTTGGGCCCGCTGCAGGA 0.582000 130 30 2.44049e-67 3.99913e-67 0.870114 1 0 CDK18 5129 broad.mit.edu 37 1 205495285 205495285 + Silent SNP G G A rs138968428 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:205495285G>A ENST00000360066.2 + 6 850 c.549G>A c.(547-549)gcG>gcA p.A183A CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000429964.2_Silent_p.A183A|CDK18_ENST00000506784.1_Silent_p.A213A NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 181 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity p.A183A(1)|p.A213A(1) breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 AGGAGGGAGCGCCCTGCACTG 0.632000 4 23 0 0 0.184627 0 0 ZP4 57829 broad.mit.edu 37 1 238048073 238048073 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:238048073G>A ENST00000366570.4 - 10 1544 c.1386C>T c.(1384-1386)ctC>ctT p.L462L RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 462 ZP. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.L462L(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACTCACGACTGAGATCAGGAC 0.493000 8 28 0 0 0.307466 0 0 TRAV10 28676 broad.mit.edu 37 14 22294115 22294115 + RNA SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:22294115C>T ENST00000390432.2 + 0 255 TCATGACTTTCAGTGAGAACA 0.468000 18 73 0 0 0.557998 0 0 NUP210L 91181 broad.mit.edu 37 1 154027277 154027277 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:154027277T>C ENST00000368559.3 - 24 3343 c.3272A>G c.(3271-3273)aAa>aGa p.K1091R NUP210L_ENST00000368553.1_Missense_Mutation_p.K24R|NUP210L_ENST00000271854.3_Missense_Mutation_p.K1091R NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 1091 integral to membrane p.K1091R(1) NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CAGTGTCATTTTCTCTGGAAG 0.368000 6 47 0 0 0.278610 0 0 GSX1 219409 broad.mit.edu 37 13 28368064 28368064 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:28368064G>T ENST00000302945.2 + 2 822 c.774G>T c.(772-774)cgG>cgT p.R258R NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 258 positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R258R(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) AGGACGACCGGGATCTTACGG 0.632000 14 8 2.32078e-09 2.79354e-09 0.479597 1 0 TNS1 7145 broad.mit.edu 37 2 218713187 218713187 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:218713187G>T ENST00000171887.4 - 17 2130 c.1678C>A c.(1678-1680)Ccc>Acc p.P560T TNS1_ENST00000430930.1_Missense_Mutation_p.P560T|TNS1_ENST00000419504.1_Missense_Mutation_p.P560T NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 560 cytoplasm|cytoskeleton|focal adhesion actin binding p.P685T(1)|p.P560T(1) breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GACTCGTAGGGGTAGCCTCCT 0.652000 9 40 0.00448238 0.00464928 0.307466 1 0 CDH6 1004 broad.mit.edu 37 5 31299713 31299713 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:31299713C>T ENST00000265071.2 + 5 1051 c.786C>T c.(784-786)aaC>aaT p.N262N CDH6_ENST00000514738.1_Silent_p.N207N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 262 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding p.N262N(1) NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CTGATGTCAACGACAACCCTC 0.443000 14 72 0 0 0.457914 0 0 FLG 2312 broad.mit.edu 37 1 152276642 152276642 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:152276642C>A ENST00000368799.1 - 3 10755 c.10720G>T c.(10720-10722)Ggc>Tgc p.G3574C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3574 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.G3574C(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTGGAGCCATCTCTTGAC 0.562000 Ichthyosis 84 320 1.3009e-50 2.11985e-50 0.870114 1 0 SLC26A5 375611 broad.mit.edu 37 7 103038452 103038452 + Nonsense_Mutation SNP C C A rs144199565 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:103038452C>A ENST00000306312.3 - 9 1159 c.898G>T c.(898-900)Gga>Tga p.G300* SLC26A5_ENST00000393729.1_Nonsense_Mutation_p.G263*|SLC26A5_ENST00000432958.2_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393723.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393727.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393730.1_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000393735.2_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000356767.4_Nonsense_Mutation_p.G300*|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Nonsense_Mutation_p.G300* NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 300 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity p.G300*(3) endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 ATGCCAGTTCCCATTACGACC 0.363000 22 59 2.70639e-06 2.99856e-06 0.624587 1 0 FKBP14 55033 broad.mit.edu 37 7 30065927 30065927 + Splice_Site SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:30065927C>A ENST00000222803.5 - 1 373 c.e1+1 NM_017946.3 NP_060416.1 Q9NWM8 FKB14_HUMAN FK506 binding protein 14, 22 kDa protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity p.?(1) breast(1)|large_intestine(2)|lung(2) 5 TAATTACTTACGTGGAGTGAA 0.458000 44 129 2.00842e-17 2.81757e-17 0.853193 1 0 MARCH3 115123 broad.mit.edu 37 5 126250695 126250695 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:126250695G>A ENST00000308660.5 - 3 834 c.320C>T c.(319-321)tCc>tTc p.S107F MARCH3_ENST00000502289.1_5'UTR|MARCH3_ENST00000515241.1_Missense_Mutation_p.S107F NM_178450.3 NP_848545.1 Q86UD3 MARH3_HUMAN membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase 107 endocytosis cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome ligase activity|zinc ion binding p.S107F(1) large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 Prostate(80;0.0928) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793) GGTGTTTGAGGATGACAGCCA 0.557000 25 13 0 0 0.681144 0 0 COL4A5 1287 broad.mit.edu 37 X 107823933 107823933 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:107823933G>T ENST00000328300.6 + 15 1100 c.856G>T c.(856-858)Ggt>Tgt p.G286C COL4A5_ENST00000361603.2_Missense_Mutation_p.G286C NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 286 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.G286C(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGGTGAGAAAGGTGAGAAGGG 0.378000 Alport syndrome with Diffuse Leiomyomatosis 11 29 1.58986e-06 1.77834e-06 0.361761 1 0 SLIT1 6585 broad.mit.edu 37 10 98762557 98762557 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:98762557T>A ENST00000266058.4 - 35 4303 c.4058A>T c.(4057-4059)cAg>cTg p.Q1353L ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Q1353L NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 1353 EGF-like 7. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding p.Q1353L(1) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GGCATTGGGCTGGCAGATGCC 0.652000 18 31 0 0 0.539581 0 0 THNSL1 79896 broad.mit.edu 37 10 25312405 25312405 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:25312405G>C ENST00000524413.1 + 3 600 c.253G>C c.(253-255)Gat>Cat p.D85H THNSL1_ENST00000376356.4_Missense_Mutation_p.D85H Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 85 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity p.D85H(1) NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) TTGTGTCATAGATGTGGATGA 0.383000 24 70 0 0 0.693898 0 0 PGM3 5238 broad.mit.edu 37 6 83881763 83881763 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:83881763T>C ENST00000513973.1 - 11 1374 c.1258A>G c.(1258-1260)Att>Gtt p.I420V PGM3_ENST00000512866.1_Missense_Mutation_p.I420V|PGM3_ENST00000506587.1_Missense_Mutation_p.I448V|PGM3_ENST00000283977.4_Missense_Mutation_p.I339V NM_001199918.1|NM_015599.2 NP_001186847.1|NP_056414.1 O95394 AGM1_HUMAN phosphoglucomutase 3 420 dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity p.I420V(1) NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 18 all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068) BRCA - Breast invasive adenocarcinoma(397;0.0478) ATGTCAGAAATAGCATCACCA 0.408000 19 44 0 0 0.592651 0 0 NRXN2 9379 broad.mit.edu 37 11 64415750 64415750 + Nonsense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:64415750C>T ENST00000265459.6 - 17 3805 c.3344G>A c.(3343-3345)tGg>tAg p.W1115* NRXN2_ENST00000409571.1_Nonsense_Mutation_p.W1108*|NRXN2_ENST00000377559.3_Nonsense_Mutation_p.W1075*|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Nonsense_Mutation_p.W1115* NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1115 EGF-like 3. cell adhesion integral to membrane metal ion binding p.W1115*(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 GAAGCCATCCCACTGCTGCAA 0.622000 52 68 0 0 0.870114 0 0 ZNF676 163223 broad.mit.edu 37 19 22362793 22362793 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:22362793C>A ENST00000397121.2 - 3 2043 c.1726G>T c.(1726-1728)Gtt>Ttt p.V576F NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 576 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V576F(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGATAACTAACAGTTGAGGAT 0.363000 21 20 6.21321e-17 8.63356e-17 0.639603 1 0 KRTAP10-4 386672 broad.mit.edu 37 21 45994266 45994266 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr21:45994266C>A ENST00000400374.3 + 1 661 c.631C>A c.(631-633)Cag>Aag p.Q211K TSPEAR_ENST00000323084.4_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 211 36 X 5 AA repeats of C-C-X(3). keratin filament p.Q211K(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 GTGCTGCCAGCAGTCTAGCTG 0.662000 22 51 7.92952e-12 1.00406e-11 0.667858 1 0 EXO1 9156 broad.mit.edu 37 1 242030245 242030245 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:242030245A>T ENST00000366548.3 + 11 1748 c.1155A>T c.(1153-1155)tcA>tcT p.S385S EXO1_ENST00000518483.1_Silent_p.S385S|EXO1_ENST00000348581.5_Silent_p.S385S NM_130398.3 NP_569082.2 Q9UQ84 EXO1_HUMAN exonuclease 1 385 Interaction with MSH3. meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity p.S385S(1) NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) GTACTGTTTCAGATGCCCCAC 0.418000 Editing and processing nucleases 34 29 0 0 0.779181 0 0 FLG2 388698 broad.mit.edu 37 1 152331282 152331282 + Missense_Mutation SNP T T G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:152331282T>G ENST00000388718.5 - 2 151 c.79A>C c.(79-81)Aca>Cca p.T27P FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 27 EF-hand 1.|S-100-like (By similarity). calcium ion binding|structural molecule activity p.T27P(1) NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTGCTCAGTGTGCCACACTCC 0.463000 66 95 0 0 0.870114 0 0 GLI3 2737 broad.mit.edu 37 7 42006172 42006172 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:42006172G>C ENST00000395925.3 - 15 2583 c.2499C>G c.(2497-2499)ctC>ctG p.L833L GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 833 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L833L(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 CCACCCCAGAGAGGTCGCTTC 0.617000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 34 123 0 0 0.796494 0 0 ADH5 128 broad.mit.edu 37 4 99996201 99996201 + Splice_Site SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:99996201C>G ENST00000296412.8 - 7 876 c.e7-1 NM_000671.3 NP_000662.3 P11766 ADHX_HUMAN alcohol dehydrogenase 5 (class III), chi polypeptide ethanol oxidation|response to redox state alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding p.?(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.5e-07) NADH(DB00157) GTGCTGCTCTCTGCAGGCACA 0.488000 59 81 0 0 0.870114 0 0 ASRGL1 80150 broad.mit.edu 37 11 62159033 62159033 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:62159033C>T ENST00000415229.2 + 6 865 c.650C>T c.(649-651)tCa>tTa p.S217L CTD-2531D15.5_ENST00000526045.1_RNA|ASRGL1_ENST00000301776.5_Missense_Mutation_p.S217L NM_001083926.1 NP_001077395.1 Q7L266 ASGL1_HUMAN asparaginase like 1 217 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity p.S217L(1) endometrium(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 7 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) GGAGCCGTCTCAACCACAGGG 0.463000 OREG0021023 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 21 0 0 0.335167 0 0 ARL6IP1 23204 broad.mit.edu 37 16 18806799 18806799 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:18806799T>C ENST00000304414.7 - 4 606 c.395A>G c.(394-396)gAa>gGa p.E132G ARL6IP1_ENST00000546206.2_Missense_Mutation_p.E103G|ARL6IP1_ENST00000562819.1_Intron|RP11-1035H13.3_ENST00000567078.2_Missense_Mutation_p.E132G NM_015161.1 NP_055976.1 Q15041 AR6P1_HUMAN ADP-ribosylation factor-like 6 interacting protein 1 132 integral to membrane protein binding p.E132G(1) breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1) 11 CTTAGGTTTTTCTTCCTTTAG 0.348000 7 42 0 0 0.248553 0 0 WDR59 79726 broad.mit.edu 37 16 74982429 74982429 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:74982429G>A ENST00000262144.6 - 6 563 c.433C>T c.(433-435)Ctg>Ttg p.L145L NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 145 p.L145L(1) breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 ACAGCAGACAGTGCAACAGTA 0.438000 55 175 0 0 0.870114 0 0 XRN2 22803 broad.mit.edu 37 20 21329033 21329033 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:21329033C>A ENST00000377191.3 + 19 1923 c.1828C>A c.(1828-1830)Cta>Ata p.L610I XRN2_ENST00000430571.2_Missense_Mutation_p.L534I|XRN2_ENST00000539513.1_Missense_Mutation_p.L556I NM_012255.3 NP_036387.2 Q9H0D6 XRN2_HUMAN 5'-3' exoribonuclease 2 610 cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent nucleolus 5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding p.L610I(1) endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5) 39 TGGTAATTTTCTACCTCCATC 0.368000 72 106 4.49761e-31 6.97906e-31 0.870114 1 0 CCDC102A 92922 broad.mit.edu 37 16 57562734 57562734 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:57562734C>T ENST00000258214.2 - 2 602 c.356G>A c.(355-357)cGc>cAc p.R119H NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 119 p.R119H(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 CACCTCCTCGCGCGCGCGGTT 0.721000 5 6 0 0 0.184627 0 0 OR2F2 135948 broad.mit.edu 37 7 143632996 143632996 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:143632996C>A ENST00000408955.2 + 1 738 c.671C>A c.(670-672)aCc>aAc p.T224N NM_001004685.1 NP_001004685.1 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T224K(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) ATCATCTCCACCATCCTAAAG 0.512000 26 27 2.44723e-14 3.26112e-14 0.681144 1 0 TBX5 6910 broad.mit.edu 37 12 114836423 114836423 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:114836423G>T ENST00000310346.4 - 5 1131 c.465C>A c.(463-465)ttC>ttA p.F155L TBX5_ENST00000405440.2_Missense_Mutation_p.F155L|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.F105L|TBX5_ENST00000526441.1_Missense_Mutation_p.F155L NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 155 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.F155L(2) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) TGAGTTTCTGGAAGGAGACGA 0.622000 9 5 0.00621372 0.0064223 0.335167 1 0 DYSF 8291 broad.mit.edu 37 2 71827870 71827870 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:71827870G>T ENST00000258104.3 + 34 4018 c.3741G>T c.(3739-3741)ccG>ccT p.P1247P DYSF_ENST00000409582.3_Silent_p.P1264P|DYSF_ENST00000409744.1_Silent_p.P1234P|DYSF_ENST00000394120.2_Silent_p.P1248P|DYSF_ENST00000410041.1_Silent_p.P1265P|DYSF_ENST00000409366.1_Silent_p.P1248P|DYSF_ENST00000409651.1_Silent_p.P1279P|DYSF_ENST00000410020.3_Silent_p.P1265P|DYSF_ENST00000409762.1_Silent_p.P1264P|DYSF_ENST00000429174.2_Silent_p.P1247P|DYSF_ENST00000413539.2_Silent_p.P1278P|DYSF_ENST00000479049.2_3'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1247 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.P1265P(1)|p.P1247P(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TCTGTCAACCGAGTCTGGAAC 0.597000 64 81 5.98616e-33 9.33841e-33 0.870114 1 0 CALB2 794 broad.mit.edu 37 16 71417337 71417337 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:71417337C>A ENST00000302628.4 + 6 544 c.467C>A c.(466-468)aCc>aAc p.T156N CALB2_ENST00000349553.5_Missense_Mutation_p.T156N NM_001740.4 NP_001731.2 P22676 CALB2_HUMAN calbindin 2 156 EF-hand 4. calcium ion binding p.T156N(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) CAGGAATACACCCAAACCATA 0.557000 12 13 0.010729 0.0109921 0.387290 1 0 PTCD1 26024 broad.mit.edu 37 7 99022675 99022675 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:99022675C>A ENST00000292478.4 - 6 1730 c.1480G>T c.(1480-1482)Gcc>Tcc p.A494S ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.A543S|PTCD1_ENST00000555673.1_Missense_Mutation_p.A543S NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 p.A494S(1) endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) ACCACCTCGGCCAGTAGCGTG 0.632000 21 72 2.70639e-06 2.99856e-06 0.624587 1 0 ITPR2 3709 broad.mit.edu 37 12 26809337 26809337 + Nonsense_Mutation SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:26809337A>T ENST00000381340.3 - 19 2753 c.2337T>A c.(2335-2337)tgT>tgA p.C779* NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 779 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.C779*(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GCATGAGGCGACAGAAGGACG 0.562000 11 56 0 0 0.387290 0 0 SGK2 10110 broad.mit.edu 37 20 42213633 42213633 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:42213633G>A ENST00000373100.1 + 14 1541 c.1081G>A c.(1081-1083)Gat>Aat p.D361N SGK2_ENST00000373077.1_Missense_Mutation_p.D360N|SGK2_ENST00000373092.3_Missense_Mutation_p.D361N|SGK2_ENST00000341458.4_Missense_Mutation_p.D421N|SGK2_ENST00000426287.1_Missense_Mutation_p.D387N|SGK2_ENST00000423407.3_Missense_Mutation_p.D361N Q9HBY8 SGK2_HUMAN serum/glucocorticoid regulated kinase 2 421 AGC-kinase C-terminal. intracellular protein kinase cascade|response to oxidative stress ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity p.D421N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TGCGCCAGAGGATGATGACAT 0.512000 45 49 0 0 0.870114 0 0 KDM4B 23030 broad.mit.edu 37 19 5032934 5032934 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:5032934C>T ENST00000159111.4 + 3 251 c.33C>T c.(31-33)ccC>ccT p.P11P KDM4B_ENST00000536461.1_Silent_p.P11P|KDM4B_ENST00000381759.4_Silent_p.P11P NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 11 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding p.P11P(2) breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCCAGAACCCCAGCTGTAAAA 0.587000 104 42 0 0 0.870114 0 0 FBXO25 26260 broad.mit.edu 37 8 401310 401310 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:401310C>G ENST00000352684.2 + 6 733 c.316C>G c.(316-318)Ctg>Gtg p.L106V RP11-91J19.3_ENST00000607549.1_RNA|FBXO25_ENST00000276326.5_Missense_Mutation_p.L173V|FBXO25_ENST00000382824.1_Missense_Mutation_p.L106V|FBXO25_ENST00000350302.3_Missense_Mutation_p.L173V NM_012173.3 NP_036305.2 Q8TCJ0 FBX25_HUMAN F-box protein 25 173 nucleus|SCF ubiquitin ligase complex actin binding|ubiquitin-protein ligase activity p.L173V(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06) CAAAGATCTTCTGCAAGACCT 0.348000 18 43 0 0 0.557998 0 0 NDST4 64579 broad.mit.edu 37 4 115997821 115997821 + Silent SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:115997821G>T ENST00000264363.2 - 2 1050 c.372C>A c.(370-372)ggC>ggA p.G124G NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 124 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.K125E(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTTCCCTTTGCCATTATCTG 0.378000 10 56 2.17888e-05 2.35609e-05 0.335167 1 0 DSG1 1828 broad.mit.edu 37 18 28934526 28934526 + Silent SNP A A T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr18:28934526A>T ENST00000257192.4 + 15 2579 c.2367A>T c.(2365-2367)acA>acT p.T789T RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Silent_p.T148T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 789 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.T789T(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CTCAGGAAACAGAGCCCGTTG 0.502000 35 47 0 0 0.779181 0 0 KIAA2026 158358 broad.mit.edu 37 9 5968771 5968771 + Missense_Mutation SNP C C G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:5968771C>G ENST00000399933.3 - 3 1459 c.1460G>C c.(1459-1461)aGa>aCa p.R487T KIAA2026_ENST00000381461.2_Missense_Mutation_p.R487T NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 487 p.R487T(1) breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CTGAAAGGGTCTCTGTTTATA 0.373000 10 42 0 0 0.335167 0 0 CDX4 1046 broad.mit.edu 37 X 72673394 72673394 + Missense_Mutation SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chrX:72673394G>C ENST00000373514.2 + 2 544 c.544G>C c.(544-546)Gat>Cat p.D182H NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D182H(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AGTTTACACTGATCATCAAAG 0.393000 6 16 0 0 0.248553 0 0 STAM2 10254 broad.mit.edu 37 2 152977303 152977303 + Missense_Mutation SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:152977303T>C ENST00000263904.4 - 14 1712 c.1363A>G c.(1363-1365)Act>Gct p.T455A NM_005843.4 NP_005834.4 O75886 STAM2_HUMAN signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 455 cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane protein binding p.T455A(1) endometrium(3)|large_intestine(4)|lung(8)|ovary(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.22) TTGGAAACAGTGTCTTGTCCA 0.358000 38 48 0 0 0.812448 0 0 TBXAS1 6916 broad.mit.edu 37 7 139715629 139715629 + Missense_Mutation SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:139715629T>A ENST00000263552.6 + 15 1874 c.1336T>A c.(1336-1338)Tgg>Agg p.W446R TBXAS1_ENST00000425687.1_Missense_Mutation_p.W378R|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.W445R|TBXAS1_ENST00000458722.1_Missense_Mutation_p.W491R|TBXAS1_ENST00000411653.1_Missense_Mutation_p.W445R|TBXAS1_ENST00000436047.2_Missense_Mutation_p.W446R|TBXAS1_ENST00000336425.5_Missense_Mutation_p.W445R|TBXAS1_ENST00000416849.2_Missense_Mutation_p.W492R|TBXAS1_ENST00000414508.2_Missense_Mutation_p.W446R NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 445 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity p.W492R(1)|p.W446R(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCCTGAGCACTGGCCAAGCCC 0.592000 14 43 0 0 0.435327 0 0 MEGF6 1953 broad.mit.edu 37 1 3519121 3519121 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:3519121G>A ENST00000356575.4 - 2 401 c.175C>T c.(175-177)Cgc>Tgc p.R59C NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 59 EMI. extracellular region calcium ion binding p.R59C(1) cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CACGGCTGGCGGCGGCCCACC 0.692000 21 13 0 0 0.624587 0 0 RET 5979 broad.mit.edu 37 10 43601846 43601846 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:43601846G>T ENST00000355710.3 + 5 1122 c.890G>T c.(889-891)cGt>cTt p.R297L RET_ENST00000340058.5_Missense_Mutation_p.R297L NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 297 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.R297L(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GCCACGCTGCGTGTCTTCGAT 0.642000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 5 26 0.014758 0.0149886 0.184627 1 0 MIA3 375056 broad.mit.edu 37 1 222801057 222801057 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:222801057G>T ENST00000344922.5 + 4 520 c.495G>T c.(493-495)atG>atT p.M165I MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.M165I|MIA3_ENST00000344507.1_Missense_Mutation_p.M165I NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 165 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding p.M165I(1) breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) TACAGGATATGGAAAAAAACC 0.363000 30 40 1.39806e-14 1.87154e-14 0.729181 1 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr21:11058353T>C 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) GAAATCTCTTTATAAAACCTT 0.343000 4 98 0 0 0.150653 0 0 LGI2 55203 broad.mit.edu 37 4 25014044 25014044 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:25014044C>A ENST00000382114.4 - 7 918 c.733G>T c.(733-735)Gcc>Tcc p.A245S NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 245 extracellular region p.A245S(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TGCGCGATGGCCACGTACACA 0.478000 28 74 6.32553e-13 8.2415e-13 0.681144 1 0 DTWD2 285605 broad.mit.edu 37 5 118183794 118183794 + Silent SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:118183794G>A ENST00000304058.4 - 5 589 c.519C>T c.(517-519)taC>taT p.Y173Y DTWD2_ENST00000515439.3_Silent_p.Y143Y|DTWD2_ENST00000510708.1_Silent_p.Y239Y Q8NBA8 DTWD2_HUMAN DTW domain containing 2 239 p.Y239Y(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) CCTCTTGTATGTAATTATTTT 0.358000 20 38 0 0 0.575678 0 0 ABCA13 154664 broad.mit.edu 37 7 48337962 48337962 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr7:48337962G>T ENST00000435803.1 + 23 9223 c.e23-1 NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 transport integral to membrane ATP binding|ATPase activity p.?(2) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTACTTTGCAGATGTAAAAAT 0.333000 14 34 3.27435e-08 3.80059e-08 0.457914 1 0 DNAH7 56171 broad.mit.edu 37 2 196749414 196749414 + Silent SNP T T A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:196749414T>A ENST00000312428.6 - 35 5758 c.5658A>T c.(5656-5658)cgA>cgT p.R1886R NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1886 R -> Q (in dbSNP:rs13034775). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R1886R(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAACGTATTTCGAGTTCGAT 0.358000 16 44 0 0 0.500413 0 0 DYNLL2 140735 broad.mit.edu 37 17 56164475 56164475 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:56164475C>T ENST00000240343.6 + 2 302 c.24C>T c.(22-24)atC>atT p.I8I NM_080677.2 NP_542408.1 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 8 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity p.I8I(1) lung(3) 3 AGGCAGTGATCAAGAACGCAG 0.517000 21 23 0 0 0.624587 0 0 NTNG1 22854 broad.mit.edu 37 1 107691419 107691419 + Silent SNP G G T rs147345058 byFrequency TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:107691419G>T ENST00000370067.1 + 2 831 c.204G>T c.(202-204)ccG>ccT p.P68P NTNG1_ENST00000370068.1_Silent_p.P68P|NTNG1_ENST00000370072.3_Silent_p.P68P|NTNG1_ENST00000370073.2_Silent_p.P68P|NTNG1_ENST00000370074.4_Silent_p.P68P|NTNG1_ENST00000542803.1_Silent_p.P68P|NTNG1_ENST00000370061.3_Silent_p.P68P|NTNG1_ENST00000370065.1_Silent_p.P68P|NTNG1_ENST00000370070.2_Silent_p.P68P|NTNG1_ENST00000370066.1_Silent_p.P68P|NTNG1_ENST00000370071.2_Silent_p.P68P Q9Y2I2 NTNG1_HUMAN netrin G1 68 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding p.D69Y(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TCGATCCTCCGGATATTACCT 0.438000 26 69 1.17739e-12 1.52384e-12 0.693898 1 0 UTRN 7402 broad.mit.edu 37 6 145124231 145124231 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:145124231G>A ENST00000367545.3 + 64 9305 c.9305G>A c.(9304-9306)cGa>cAa p.R3102Q UTRN_ENST00000367526.4_Missense_Mutation_p.R657Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3102 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.R3102Q(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TTTTCGGGTCGAACAGCAAAA 0.338000 40 39 0 0 0.847076 0 0 XIRP2 129446 broad.mit.edu 37 2 168103300 168103300 + Missense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:168103300G>A ENST00000409195.1 + 9 5487 c.5398G>A c.(5398-5400)Gaa>Aaa p.E1800K XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1578K|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1800K|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1625 actin cytoskeleton organization cell junction actin binding p.E1800K(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTCTCTGGTTGAACGTACTGT 0.403000 26 75 0 0 0.706142 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1709952 1709952 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:1709952G>C ENST00000397412.3 + 11 2400 c.2301G>C c.(2299-2301)acG>acC p.T767T CRAMP1L_ENST00000436138.3_Silent_p.T764T|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Silent_p.T767T|CRAMP1L_ENST00000262317.4_Silent_p.T145T Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 767 nucleus DNA binding p.T767T(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 AGTCGATGACGCCCCCAGGGA 0.627000 21 13 0 0 0.639603 0 0 CDH11 1009 broad.mit.edu 37 16 65026828 65026828 + Silent SNP T T C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:65026828T>C ENST00000394156.3 - 5 1086 c.633A>G c.(631-633)gaA>gaG p.E211E CDH11_ENST00000268603.4_Silent_p.E211E|CDH11_ENST00000566827.1_Silent_p.E85E P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 211 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding p.E211E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CTGTCTGTGCTTCCACCGAAA 0.438000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 4 23 0 0 0.150653 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872436 51872436 + Silent SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:51872436C>T ENST00000371497.5 + 2 3326 c.2439C>T c.(2437-2439)tcC>tcT p.S813S TSHZ2_ENST00000329613.6_Silent_p.S810S|TSHZ2_ENST00000603338.2_Silent_p.S810S NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 813 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S813S(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CAGCCTCCTCCTCCAGGGTCC 0.547000 20 56 0 0 0.608945 0 0 PICALM 8301 broad.mit.edu 37 11 85722153 85722153 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:85722153G>A ENST00000526033.1 - 7 1001 c.685C>T c.(685-687)Caa>Taa p.Q229* PICALM_ENST00000393346.3_Nonsense_Mutation_p.Q229*|PICALM_ENST00000356360.5_Nonsense_Mutation_p.Q229*|PICALM_ENST00000532317.1_Nonsense_Mutation_p.Q229*|PICALM_ENST00000528398.1_Nonsense_Mutation_p.Q178* NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 229 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding p.Q229*(1) endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TCTTTGCATTGGTTCTTTTTC 0.303000 T """MLLT10, MLL""" """TALL, AML, """ 7 40 0 0 0.248553 0 0 LIMS2 55679 broad.mit.edu 37 2 128415049 128415049 + Silent SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:128415049C>A ENST00000409455.1 - 2 719 c.84G>T c.(82-84)ggG>ggT p.G28G LIMS2_ENST00000355119.4_Silent_p.G33G|LIMS2_ENST00000409808.2_Silent_p.G28G|LIMS2_ENST00000410011.1_Silent_p.G28G|LIMS2_ENST00000324938.5_Silent_p.G57G|LIMS2_ENST00000545738.2_Silent_p.G55G Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 33 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding p.G57G(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) GGTACAGCTCCCCATTGCTGT 0.632000 4 90 0.248553 0.251128 0.248553 1 0 FLG 2312 broad.mit.edu 37 1 152284712 152284712 + Missense_Mutation SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:152284712G>T ENST00000368799.1 - 3 2685 c.2650C>A c.(2650-2652)Cgt>Agt p.R884S FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 884 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R884S(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACTGCCCACGGGAGGCATCA 0.567000 Ichthyosis 209 347 3.0038e-84 4.97797e-84 0.870114 1 0 IRS2 8660 broad.mit.edu 37 13 110438032 110438032 + Silent SNP G G C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr13:110438032G>C ENST00000375856.3 - 1 883 c.369C>G c.(367-369)gcC>gcG p.A123A NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 123 PH. fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity p.A123A(1) kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) CGGCGGCCACGGCGAAGTACT 0.687000 2 2 0 0 0.150653 0 0 OR8U1 219417 broad.mit.edu 37 11 56143335 56143335 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:56143335C>A ENST00000302270.1 + 1 236 c.236C>A c.(235-237)cCc>cAc p.P79H NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 p.P79H(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) GTCATTACACCCAAAATGCTT 0.388000 86 128 2.05912e-35 3.26446e-35 0.870114 1 0 TANC1 85461 broad.mit.edu 37 2 160080800 160080800 + Missense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:160080800C>T ENST00000263635.6 + 23 3973 c.3736C>T c.(3736-3738)Cgg>Tgg p.R1246W TANC1_ENST00000454300.1_Missense_Mutation_p.R1140W NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1246 cell junction|postsynaptic density|postsynaptic membrane binding p.R1246W(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CAGCGGGATGCGGCCCTTGGA 0.592000 3 55 0 0 0.115264 0 0 DHX15 1665 broad.mit.edu 37 4 24531295 24531295 + Nonsense_Mutation SNP C C T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:24531295C>T ENST00000336812.4 - 13 2355 c.2199G>A c.(2197-2199)tgG>tgA p.W733* DHX15_ENST00000508032.1_5'UTR NM_001358.2 NP_001349.2 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 15 733 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity p.W733*(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 30 Breast(46;0.0503) TATAAAGCACCCATTCAGGTT 0.393000 36 27 0 0 0.796494 0 0 CFHR5 81494 broad.mit.edu 37 1 196953241 196953241 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:196953241C>A ENST00000367414.5 + 3 532 c.476C>A c.(475-477)tCc>tAc p.S159Y CFHR5_ENST00000256785.4_Missense_Mutation_p.S135Y NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 135 Sushi 3. complement activation, alternative pathway extracellular region p.S135Y(1) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CGGGGCTGGTCCACTCCTCCC 0.343000 7 23 0.000157383 0.000167704 0.278610 1 0 ZNF876P 642280 broad.mit.edu 37 4 248482 248482 + RNA SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:248482G>T ENST00000356347.3 + 0 1306 NR_027481.1 CAAATGTAAAGAATGTGGCAA 0.388000 7 1 1.06961e-07 1.22451e-07 0.278610 1 0 C2CD3 26005 broad.mit.edu 37 11 73748715 73748715 + Nonsense_Mutation SNP G G A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:73748715G>A ENST00000334126.7 - 30 5915 c.5689C>T c.(5689-5691)Cag>Tag p.Q1897* C2CD3_ENST00000313663.7_Nonsense_Mutation_p.Q1897* Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1897 centrosome p.Q1897*(2) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AAGTACCTCTGAATCTGATCA 0.488000 11 39 0 0 0.387290 0 0 RP1L1 94137 broad.mit.edu 37 8 10465293 10465293 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:10465293C>A ENST00000382483.3 - 4 6538 c.6315G>T c.(6313-6315)gaG>gaT p.E2105D NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 2105 intracellular signal transduction p.E2105D(1) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CCCCTTCTGCCTCTGGGGCCT 0.612000 59 128 8.81991e-31 1.36138e-30 0.870114 1 0 APCDD1L 164284 broad.mit.edu 37 20 57042210 57042210 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:57042210C>A ENST00000371149.3 - 3 923 c.693G>T c.(691-693)agG>agT p.R231S APCDD1L_ENST00000439429.1_Missense_Mutation_p.R242S NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 231 integral to membrane p.R231S(1) large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GGTAGTGCCGCCTCTCCGCCG 0.736000 25 32 4.7796e-09 5.68307e-09 0.681144 1 0 OR2D3 120775 broad.mit.edu 37 11 6943214 6943214 + Missense_Mutation SNP C C A TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr11:6943214C>A ENST00000317834.3 + 1 1010 c.982C>A c.(982-984)Cat>Aat p.H328N NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 328 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H328N(1) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGCTTCTCTCATAGGCAGTG 0.403000 14 24 0.000219431 0.000232972 0.457914 1 0 THSD7B 80731 broad.mit.edu 37 2 138169178 138169178 + Splice_Site SNP G G T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:138169178G>T ENST00000409968.1 + 14 2873 c.e14-1 THSD7B_ENST00000272643.3_Splice_Site|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Splice_Site thrombospondin, type I, domain containing 7B p.?(2) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTTGGAACAGGGAAAAGCAG 0.338000 17 40 9.16793e-09 1.07912e-08 0.520397 1 0 ADCY8 114 broad.mit.edu 37 8 131848553 131848553 + Missense_Mutation SNP A A G TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr8:131848553A>G ENST00000286355.5 - 12 4737 c.2645T>C c.(2644-2646)cTg>cCg p.L882P ADCY8_ENST00000377928.3_Missense_Mutation_p.L751P NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 882 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.L882P(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GTCATAACGCAGAAAGAGGCC 0.527000 HNSCC(32;0.087) 20 46 0 0 0.592651 0 0 ARID1A 8289 broad.mit.edu 37 1 27092956 27092957 + Frame_Shift_Ins INS - - C TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:27092956_27092957insC ENST00000324856.7 + 10 3258_3259 c.2887_2888insC c.(2887-2889)cagfs p.Q963fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.Q580fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.Q963fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 963 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGGATGGCAGCCAGCCCAGAG 0.446 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 11 32 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121137803 121137805 + RNA DEL CCA CCA - rs60375635 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr1:121137803_121137805delCCA ENST00000437515.1 - 0 329 ACCGCCGCCGCCACGGCTTTTTG 0.645 4 8 --- --- --- --- AC016995.3 0 broad.mit.edu 37 2 38710019 38710019 + RNA DEL T T - rs2005502 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:38710019delT ENST00000417039.1 - 0 696 CTTtaaaaaataaataaataa 0.244 4 6 --- --- --- --- FN1 2335 broad.mit.edu 37 2 216295517 216295518 + Frame_Shift_Ins INS - - T TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:216295517_216295518insT ENST00000354785.4 - 5 974_975 c.605_606insA c.(604-606)gaafs p.E202fs FN1_ENST00000446046.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000323926.6_Frame_Shift_Ins_p.E202fs|FN1_ENST00000432072.2_Frame_Shift_Ins_p.E202fs|FN1_ENST00000356005.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000421182.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000359671.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000357867.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000443816.1_Frame_Shift_Ins_p.E202fs|FN1_ENST00000357009.2_Frame_Shift_Ins_p.E202fs|FN1_ENST00000345488.5_Frame_Shift_Ins_p.E202fs|FN1_ENST00000336916.4_Frame_Shift_Ins_p.E202fs|FN1_ENST00000346544.3_Frame_Shift_Ins_p.E202fs|FN1_ENST00000426059.1_Frame_Shift_Ins_p.E202fs P02751 FINC_HUMAN fibronectin 1 202 Fibrin- and heparin-binding 1.|Fibronectin type-I 4. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTAGGGCTTCTCCCACGTTTC 0.441 15 59 --- --- --- --- PAX3 5077 broad.mit.edu 37 2 223084911 223084911 + Frame_Shift_Del DEL G G - rs45607236 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr2:223084911delG ENST00000350526.4 - 7 1257 c.1121delC c.(1120-1122)tgfs p.S374fs PAX3_ENST00000392070.2_Frame_Shift_Del_p.S374fs|PAX3_ENST00000336840.6_Frame_Shift_Del_p.S374fs|PAX3_ENST00000392069.2_Frame_Shift_Del_p.S374fs|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000409551.3_Frame_Shift_Del_p.S373fs|PAX3_ENST00000344493.4_Frame_Shift_Del_p.S374fs NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 374 apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGAGGGCCCCGACGGAGGCAC 0.552 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 8 51 --- --- --- --- PLRG1 5356 broad.mit.edu 37 4 155465648 155465648 + Frame_Shift_Del DEL T T - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr4:155465648delT ENST00000499023.2 - 7 669 c.543delA c.(541-543)aafs p.K181fs PLRG1_ENST00000302078.5_Frame_Shift_Del_p.K172fs|PLRG1_ENST00000393905.2_Frame_Shift_Del_p.K181fs NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 181 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) TTGTAGGGGCTTTTTTAGCCA 0.408 9 1096 --- --- --- --- APC 324 broad.mit.edu 37 5 112173704 112173704 + Frame_Shift_Del DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:112173704delC ENST00000457016.1 + 16 2793 c.2413delC c.(2413-2415)gafs p.R805fs APC_ENST00000508376.2_Frame_Shift_Del_p.R805fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.R805fs P25054 APC_HUMAN adenomatous polyposis coli 805 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.R805*(10)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGACACCAATCGACATGATGA 0.373 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 49 28 --- --- --- --- DND1 373863 broad.mit.edu 37 5 140052285 140052285 + Frame_Shift_Del DEL T T - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr5:140052285delT ENST00000542735.1 - 3 392 c.349delA c.(349-351)cgfs p.T117fs NM_194249.2 NP_919225.1 Q8IYX4 DND1_HUMAN DND microRNA-mediated repression inhibitor 1 117 RRM 1. multicellular organismal development|negative regulation of gene silencing by miRNA cytoplasm|nucleus AU-rich element binding|nucleotide binding p.T117fs*24(1) central_nervous_system(1)|prostate(4) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTGCAGCGTGGCGATGGCG 0.682 5 8 --- --- --- --- ENPP3 5169 broad.mit.edu 37 6 132061443 132061444 + Frame_Shift_Del DEL CC CC - rs149553053 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr6:132061443_132061444delCC ENST00000414305.1 + 25 2708_2709 c.2380_2381delCC c.(2380-2382)gfs p.P794fs ENPP3_ENST00000357639.3_Frame_Shift_Del_p.P794fs|ENPP3_ENST00000358229.5_3'UTR O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 794 Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity p.P794L(1) NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) GAGCCACACACCGGAAAACTGC 0.485 40 45 --- --- --- --- MAP1LC3BP1 392288 broad.mit.edu 37 9 19461310 19461310 + RNA DEL G G - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr9:19461310delG ENST00000438342.1 - 0 363 GGCCTGGTGCGGGGATCCAgg 0.617 6 5 --- --- --- --- PROSER2 254427 broad.mit.edu 37 10 11894129 11894129 + Frame_Shift_Del DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr10:11894129delC ENST00000277570.5 + 2 207 c.53delC c.(52-54)tcfs p.S18fs PROSER2-AS1_ENST00000445498.1_RNA|PROSER2_ENST00000474155.1_3'UTR NM_153256.3 NP_694988.3 proline and serine-rich protein 2 TCAGACACGTCCCCCAGCTGC 0.587 8 40 --- --- --- --- PTPRO 5800 broad.mit.edu 37 12 15713185 15713185 + Frame_Shift_Del DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:15713185delC ENST00000281171.4 + 17 3016 c.2686delC c.(2686-2688)ttfs p.L897fs PTPRO_ENST00000542557.1_Intron|PTPRO_ENST00000544244.1_Intron|PTPRO_ENST00000445537.2_Frame_Shift_Del_p.L86fs|PTPRO_ENST00000442921.2_Frame_Shift_Del_p.L86fs|PTPRO_ENST00000348962.2_Intron NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 897 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) GACTGATTATCTTTTGGCATT 0.318 55 44 --- --- --- --- CUX2 23316 broad.mit.edu 37 12 111748204 111748204 + Frame_Shift_Del DEL G G - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr12:111748204delG ENST00000261726.6 + 15 1772 c.1618delG c.(1618-1620)ggfs p.G542fs NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 542 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GGATGGTGGTGGGGGCGGAGC 0.711 9 33 --- --- --- --- PRKD1 5587 broad.mit.edu 37 14 30396583 30396583 + Frame_Shift_Del DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:30396583delC ENST00000331968.5 - 1 365 c.136delG c.(136-138)tcfs p.V46fs PRKD1_ENST00000415220.2_Frame_Shift_Del_p.V46fs NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 46 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) ATGCCCCCGACCGGGGCCGCG 0.751 11 10 --- --- --- --- KTN1 3895 broad.mit.edu 37 14 56116524 56116526 + In_Frame_Del DEL AAG AAG - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr14:56116524_56116526delAAG ENST00000416613.1 + 21 2470_2472 c.2398_2400delAAG c.(2398-2400)del p.K801del KTN1_ENST00000395308.1_In_Frame_Del_p.K801del|KTN1_ENST00000395311.1_In_Frame_Del_p.K801del|KTN1_ENST00000554507.1_In_Frame_Del_p.K96del|KTN1_ENST00000438792.2_In_Frame_Del_p.K801del|KTN1_ENST00000395314.3_In_Frame_Del_p.K801del|KTN1_ENST00000395309.3_In_Frame_Del_p.K801del|KTN1_ENST00000413890.2_In_Frame_Del_p.K801del Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 801 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 TGAAGAACTTAAGAAAGTGTAAG 0.315 T RET papillary thryoid 8 76 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077784 32077784 + RNA DEL G G - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr16:32077784delG ENST00000566806.1 - 0 499 GCTGTCTCCAGGGCAGGTGCA 0.587 10 50 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578474 7578474 + Frame_Shift_Del DEL C C - rs137852790 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:7578474delC ENST00000420246.2 - 5 588 c.456delG c.(454-456)ccfs p.P153fs TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 153 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation). 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.P153fs*28(9)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*14(5)|p.P153fs*16(1)|p.P151_V173del23(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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) GGGTGCCGGGCGGGGGTGTGG 0.612 111 """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) 31 26 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 4 8 --- --- --- --- TBC1D3P2 440452 broad.mit.edu 37 17 60345227 60345227 + RNA DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr17:60345227delC ENST00000581291.1 - 0 846 breast(2)|kidney(1)|lung(2) 5 TGGGCGGTGTCCAGAGCTCCC 0.627 9 26 --- --- --- --- ZNF728 388523 broad.mit.edu 37 19 23158509 23158509 + Frame_Shift_Del DEL C C - TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr19:23158509delC ENST00000594710.1 - 4 1775 c.1630delG c.(1630-1632)ccfs p.A544fs NM_001267716.1 NP_001254645.1 zinc finger protein 728 CAGATGAAGGCTTTGCCACAT 0.398 13 19 --- --- --- --- MIR646HG 284757 broad.mit.edu 37 20 58883399 58883400 + RNA INS - - T rs149794923 by1000genomes TCGA-55-5899-01A-11D-1625-08 TCGA-55-5899-10A-01D-1625-08 Untested Somatic Phase_I WXS none Illumina GAIIx ddaf36f7-7503-4ab4-b7f5-9777c0c1518c dc4e5547-75ee-4ef7-9657-998b1df44128 g.chr20:58883399_58883400insT ENST00000432910.1 + 0 332 NR_046099.1 ggaccgggaaacagatgcttac 0.569 3 4 --- --- --- ---