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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut SLC4A2 6522 broad.mit.edu 37 7 150769149 150769149 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr7:150769149C>T uc022apz.1 + 15 3501 c.2461C>T c.(2461-2463)Cgc>Tgc p.R821C SLC4A2_uc003wit.4_Missense_Mutation_p.R821C|SLC4A2_uc011kve.2_Missense_Mutation_p.R812C|SLC4A2_uc003wiu.4_Missense_Mutation_p.R807C NM_001199692 NP_001186621 P04920 B3A2_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA. 821 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity p.S820F(1) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTTCGTCTCCCGCTTCACCCA 0.607000 121 46 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48319406 48319406 + Missense_Mutation SNP A C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr7:48319406A>C uc003toq.2 + 17 8639 c.8615A>C c.(8614-8616)gAg>gCg p.E2872A ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2872 transport integral to membrane ATP binding|ATPase activity 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 ACCAAGAAAGAGATGATTGAC 0.353000 60 33 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143742727 143742727 + Silent SNP T C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr2:143742727T>C uc010fnm.3 + 9 1020 c.804T>C c.(802-804)gaT>gaC p.D268D KYNU_uc002tvk.3_Silent_p.D268D|KYNU_uc002tvl.3_Silent_p.D268D NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 268 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GGGGAGTTGATTTTGCCTGCT 0.398000 47 23 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38932037 38932037 + Missense_Mutation SNP C G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38932037C>G uc003jln.2 + 15 2667 c.2265C>G c.(2263-2265)atC>atG p.I755M OSMR_uc011cpj.2_Intron NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 755 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TCTTGCTCATCATGGTCATGT 0.393000 163 41 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293490 145293490 + Missense_Mutation SNP G C C rs6671335 by1000genomes TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:145293490G>C uc021oul.1 + 0 120 c.85G>C c.(85-87)Gca>Cca p.A29P NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Missense_Mutation_p.A29P|NBPF10_uc001emq.1_Missense_Mutation_p.A29P NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 29 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) CCCCCAGCTGGCAGAGAAGAA 0.488000 346 107 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296101 20296101 + Missense_Mutation SNP G C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr14:20296101G>C uc010tkv.2 + 0 494 c.494G>C c.(493-495)cGc>cCc p.R165P NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTCATCCTCCGCTTGCCTTTT 0.517000 112 25 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37179530 37179530 + Missense_Mutation SNP G T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:37179530G>T uc011cpa.1 - 28 5984 c.5753C>A c.(5752-5754)tCt>tAt p.S1918Y C5orf42_uc011coy.1_Missense_Mutation_p.S418Y|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.S993Y NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1918 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ACCTCCAACAGATTCTTCAAT 0.353000 268 84 2.48225e-49 2.66612e-49 1 1 0 SLC6A18 348932 broad.mit.edu 37 5 1244416 1244416 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:1244416C>T uc003jby.2 + 9 1547 c.1424C>T c.(1423-1425)gCc>gTc p.A475V NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 475 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GACAATTTTGCCGCTTCCCCG 0.582000 823 6 0 0 1 0 0 ADHFE1 137872 broad.mit.edu 37 8 67356885 67356885 + Silent SNP C G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr8:67356885C>G uc003xwb.4 + 4 289 c.255C>G c.(253-255)tcC>tcG p.S85S ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Silent_p.S37S|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Silent_p.S15S|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript NM_144650 NP_653251 Q8IWW8 HOT_HUMAN Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA. 85 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) AGAACCTCTCCAAGCTCCCTC 0.433000 127 54 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138584292 138584292 + Missense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr6:138584292G>A uc003qhu.3 + 11 1843 c.1672G>A c.(1672-1674)Gac>Aac p.D558N NM_020340 NP_065073 Q5TH69 BIG3_HUMAN Homo sapiens KIAA1244 (KIAA1244), mRNA. 558 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) AGAGGCGGTAGACCAGCCAGA 0.527000 31 13 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37179517 37179517 + Silent SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:37179517G>A uc011cpa.1 - 28 5997 c.5766C>T c.(5764-5766)ttC>ttT p.F1922F C5orf42_uc011coy.1_Silent_p.F422F|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.F997F NM_023073 NP_075561 E9PH94 E9PH94_HUMAN Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA. 1922 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TGGGACTTCTGAAACCTCCAA 0.343000 291 104 0 0 1 0 0 DSG2 1829 broad.mit.edu 37 18 29118773 29118773 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr18:29118773C>T uc002kwu.4 + 11 1899 c.1711C>T c.(1711-1713)Ctg>Ttg p.L571L NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 571 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AATTCAGTTCCTGATTTCAGA 0.463000 37 10 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38932986 38932986 + Missense_Mutation SNP C G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38932986C>G uc003jln.2 + 17 2782 c.2380C>G c.(2380-2382)Cta>Gta p.L794V OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 794 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GAACCCTCACCTAATAATAAT 0.368000 88 19 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4823016 4823016 + Missense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr7:4823016G>A uc003sne.3 + 3 521 c.436G>A c.(436-438)Gag>Aag p.E146K AP5Z1_uc010ksp.3_Non-coding_Transcript NM_014855 NP_055670 O43299 K0415_HUMAN Homo sapiens KIAA0415 (KIAA0415), mRNA. 146 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding CCGGCAGCCTGAGGGACCCAG 0.667000 27 10 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102071077 102071077 + Missense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr12:102071077G>A uc001tii.3 + 25 3133 c.2993G>A c.(2992-2994)gGg>gAg p.G998E MYBPC1_uc001tig.3_Missense_Mutation_p.G1005E|MYBPC1_uc010svr.2_Missense_Mutation_p.G980E|MYBPC1_uc010svs.2_Missense_Mutation_p.G998E|MYBPC1_uc001tij.3_Missense_Mutation_p.G980E|MYBPC1_uc010svt.2_Missense_Mutation_p.G968E|MYBPC1_uc010svu.2_Missense_Mutation_p.G961E|MYBPC1_uc001tik.3_Missense_Mutation_p.G954E|MYBPC1_uc001tih.3_Missense_Mutation_p.G1005E|MYBPC1_uc010svq.2_Missense_Mutation_p.G967E|MYBPC1_uc001til.3_Missense_Mutation_p.G23E NM_206820 NP_996556 Q00872 MYPC1_HUMAN Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA. 998 Fibronectin type-III 3. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TTGGTCATAGGGAATGAATAT 0.413000 46 21 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1482932 1482932 + Silent SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr19:1482932G>A uc002ltb.1 - 12 1721 c.1659C>T c.(1657-1659)acC>acT p.T553T PCSK4_uc002lsz.2_Silent_p.T40T|PCSK4_uc002lta.2_Intron NM_017573 NP_060043 Q6UW60 PCSK4_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA. 553 proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) CTAGGCCCAGGGTCCACACGC 0.622000 23 20 0 0 1 0 0 ZNF304 57343 broad.mit.edu 37 19 57869174 57869174 + Missense_Mutation SNP A G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr19:57869174A>G uc010etw.3 + 3 2466 c.2078A>G c.(2077-2079)aAc>aGc p.N693S ZNF304_uc010ygw.2_Missense_Mutation_p.N646S|ZNF304_uc010etx.3_Missense_Mutation_p.N604S NM_020657 NP_065708 Q9HCX3 ZN304_HUMAN Homo sapiens zinc finger protein 304 (ZNF304), mRNA. 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1) 26 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) CACGAGTGCAACAGTTTTGGT 0.438000 56 34 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144621649 144621649 + Missense_Mutation SNP C G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:144621649C>G uc009wig.1 + 7 1169 c.975C>G c.(973-975)aaC>aaG p.N325K NBPF10_uc010oxo.1_Missense_Mutation_p.N327K|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.N258K|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.N56K NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 327 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) ACCAGCAGAACAAATACAGTA 0.428000 675 8 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38933362 38933362 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38933362C>T uc003jln.2 + 17 3158 c.2756C>T c.(2755-2757)tCc>tTc p.S919F OSMR_uc011cpj.2_Missense_Mutation_p.S123F NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 919 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AATTATGTGTCCCAGTTGGCT 0.443000 157 36 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120462957 120462957 + Nonsense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:120462957G>A uc001eik.3 - 29 5671 c.5374C>T c.(5374-5376)Cag>Tag p.Q1792* NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1792 Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCAAGGTGCTGCTGTGTCCAT 0.537000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 248 31 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718512 142718512 + Missense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chrX:142718512G>A uc022cfm.1 - 0 413 c.413C>T c.(412-414)gCt>gTt p.A138V SLITRK4_uc022cfl.1_Missense_Mutation_p.A138V|SLITRK4_uc004fbx.3_Missense_Mutation_p.A138V|SLITRK4_uc004fby.3_Missense_Mutation_p.A138V NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 138 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ATTGTAGTCAGCCTGGAGATA 0.393000 48 32 0 0 1 0 0 FPGS 2356 broad.mit.edu 37 9 130566807 130566807 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr9:130566807C>T uc004bsg.1 + 2 347 c.297C>T c.(295-297)atC>atT p.I99I FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Silent_p.I99I|FPGS_uc004bsi.1_Silent_p.I49I NM_004957 NP_004948 Q05932 FOLC_HUMAN Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 99 folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process cytosol|mitochondrial matrix ATP binding|tetrahydrofolylpolyglutamate synthase activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 L-Glutamic Acid(DB00142) TGAACATCATCCACGTCACTG 0.597000 30 18 0 0 1 0 0 ZNF397 84307 broad.mit.edu 37 18 32823176 32823176 + Missense_Mutation SNP T A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr18:32823176T>A uc010dmp.3 + 2 635 c.475T>A c.(475-477)Tcc>Acc p.S159T ZNF397_uc002kyi.3_Missense_Mutation_p.S159T|ZNF397_uc002kyj.3_Missense_Mutation_p.S159T|ZNF397_uc010dmq.3_Missense_Mutation_p.S159T|ZNF397_uc010dmr.3_Non-coding_Transcript NM_001135178 NP_001128650 Q8NF99 ZN397_HUMAN Homo sapiens zinc finger protein 397 (ZNF397), transcript variant 1, mRNA. 159 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 TCTCAGAGCATCCCAAGAGTC 0.463000 56 18 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38933286 38933286 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38933286C>T uc003jln.2 + 17 3082 c.2680C>T c.(2680-2682)Cta>Tta p.L894L OSMR_uc011cpj.2_Silent_p.L98L NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 894 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGAAAATGTACTAAAGGCACT 0.463000 224 58 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19721457 19721457 + Splice_Site SNP T G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:19721457T>G uc003jgd.3 - 5 1177 c.643_splice c.e5+1 p.G215_splice CDH18_uc011cnm.2_Splice_Site_p.G215_splice|CDH18_uc003jgc.3_Splice_Site_p.G215_splice|CDH18_uc021xwu.1_Splice_Site_p.G215_splice NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 215 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TGCACTAACCTGTTTTAGGGT 0.438000 493 44 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42354740 42354740 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr19:42354740C>T uc010xwe.2 + 6 1199 c.1116C>T c.(1114-1116)atC>atT p.I372I DMRTC2_uc002orr.1_Silent_p.I249I|DMRTC2_uc002ors.3_Silent_p.I321I NM_001040283 NP_001035373 Q8IXT2 DMRTD_HUMAN Homo sapiens DMRT-like family C2 (DMRTC2), mRNA. 321 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CTGCCTGGATCTCCCTGCTTC 0.597000 24 13 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31901989 31901989 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr6:31901989C>T uc003nyf.3 + 5 1026 c.762C>T c.(760-762)aaC>aaT p.N254N CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Silent_p.N254N|CFB_uc010jtk.3_Silent_p.N122N|CFB_uc011doq.2_Silent_p.N225N|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank NM_000063 NP_000054 P00751 CFAB_HUMAN Homo sapiens complement component 2 (C2), transcript variant 1, mRNA. 270 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GTCATCTGAACCTCTACCTGC 0.542000 124 45 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73102473 73102473 + Missense_Mutation SNP C A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr6:73102473C>A uc003pga.3 + 30 4656 c.4579C>A c.(4579-4581)Cag>Aag p.Q1527K RIMS1_uc011dyb.2_Missense_Mutation_p.Q924K|RIMS1_uc003pgc.3_Missense_Mutation_p.Q976K|RIMS1_uc010kaq.3_Missense_Mutation_p.Q847K|RIMS1_uc011dyc.2_Missense_Mutation_p.Q652K|RIMS1_uc010kar.3_Missense_Mutation_p.Q595K|RIMS1_uc011dyd.2_Missense_Mutation_p.Q661K|RIMS1_uc003pge.3_Missense_Mutation_p.Q567K|RIMS1_uc003pgf.3_Missense_Mutation_p.Q527K|RIMS1_uc003pgi.3_Missense_Mutation_p.Q343K|RIMS1_uc003pgg.3_Missense_Mutation_p.Q423K|RIMS1_uc003pgh.3_Missense_Mutation_p.Q394K|RIMS1_uc003pgd.3_Missense_Mutation_p.Q593K|RIMS1_uc011dye.2_Missense_Mutation_p.Q333K|RIMS1_uc011dyf.2_Missense_Mutation_p.Q151K|RIMS1_uc011dyg.2_Missense_Mutation_p.Q54K NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 1527 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGGACCAGCCCAGCTTGTTGG 0.403000 56 17 7.87624e-14 8.30586e-14 1 1 0 TTN 7273 broad.mit.edu 37 2 179396850 179396850 + Missense_Mutation SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr2:179396850G>A uc021vsy.1 - 306 97013 c.96788C>T c.(96787-96789)tCa>tTa p.S32263L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S25958L|TTN_uc021vta.1_Missense_Mutation_p.S25891L|TTN_uc021vtb.1_Missense_Mutation_p.S25766L|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33190 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 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) AGACGCAGATGAGGATGATTC 0.443000 28 17 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T C C rs142470496 byFrequency TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr22:29091840T>C uc003adu.1 - 10 1189 c.1117A>G c.(1117-1119)Aag>Gag p.K373E CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E NM_007194 NP_009125 O96017 CHK2_HUMAN Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA. 373 Protein kinase. DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(18)|p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 62 7 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90272323 90272323 + Splice_Site SNP A G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr15:90272323A>G uc002boj.3 + 10 1224 c.1123_splice c.e10+1 p.G375_splice WDR93_uc010bnr.3_Splice_Site_p.G375_splice|WDR93_uc010upz.2_Splice_Site_p.G92_splice NM_020212 NP_064597 Q6P2C0 WDR93_HUMAN Homo sapiens WD repeat domain 93 (WDR93), mRNA. 375 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AGGGCCCCTCAGGTAAATGAA 0.527000 101 4 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144816651 144816651 + Missense_Mutation SNP C T T rs589059 TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:144816651C>T uc009wig.1 + 11 1746 c.1552C>T c.(1552-1554)Cgg>Tgg p.R518W NBPF10_uc010oxo.1_Missense_Mutation_p.R520W|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.R249W|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.R180W NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 520 p.H517Y(1) 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) TCATGTTGAACGGGAAGATGC 0.448000 267 5 0 0 1 0 0 CBLC 23624 broad.mit.edu 37 19 45285749 45285749 + Splice_Site SNP G C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr19:45285749G>C uc002ozs.3 + 4 842 c.779_splice c.e4+1 p.S260_splice CBLC_uc010ejt.3_Splice_Site_p.S260_splice NM_012116 NP_036248 Q9ULV8 CBLC_HUMAN Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA. 260 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Lung NSC(12;0.00136)|all_lung(12;0.00371) Ovarian(192;0.231) AGCCAGGCAGGTAAAGGGTCC 0.612000 M AML 19 20 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148407327 148407327 + Silent SNP G A A rs114797709 by1000genomes TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:148407327G>A uc003lpu.3 - 10 2120 c.1968C>T c.(1966-1968)gcC>gcT p.A656A SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.A300A|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.A203A|SH3TC2_uc010jgx.3_Silent_p.A649A|SH3TC2_uc003lpv.1_Silent_p.A203A|SH3TC2_uc011dbz.1_Silent_p.A541A NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA. 656 binding p.F655S(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGCGCTCGGCAAAGGGCA 0.607000 32 4 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126823 90126823 + Missense_Mutation SNP T G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr16:90126823T>G uc010cje.3 - 8 1179 c.1159A>C c.(1159-1161)Atg>Ctg p.M387L PRDM7_uc002fqo.3_Intron|PRDM7_uc010cjf.3_Intron|PRDM7_uc010cjg.1_Missense_Mutation_p.M181L NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA. 387 chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCATACCAGACCAG 0.522000 74 3 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144621642 144621642 + Missense_Mutation SNP A G G rs11485968 TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:144621642A>G uc009wig.1 + 7 1162 c.968A>G c.(967-969)cAg>cGg p.Q323R NBPF10_uc010oxo.1_Missense_Mutation_p.Q325R|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.Q256R|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.Q54R NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 325 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) CTGGCCAACCAGCAGAACAAA 0.433000 728 9 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1280341 1280341 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:1280341C>T uc003jcb.1 - 3 1940 c.1882G>A c.(1882-1884)Gac>Aac p.D628N TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.D628N|TERT_uc003jca.1_Missense_Mutation_p.D628N|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.D80N NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 628 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CGCAGCCCGTCAGGCTTGGGG 0.597000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 198 57 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154030 5154030 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr12:5154030C>T uc001qni.3 + 0 946 c.717C>T c.(715-717)atC>atT p.I239I NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 239 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity p.I239I(2) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 TGTGGCTTATCTTCGAGTATC 0.602000 81 38 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1278834 1278834 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:1278834C>T uc003jcb.1 - 5 2266 c.2208G>A c.(2206-2208)caG>caA p.Q736Q TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.Q736Q|TERT_uc003jca.1_Silent_p.Q724Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.Q188Q NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 736 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGTACGTGTTCTGGGGTTTGA 0.612000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 546 176 0 0 1 0 0 BASP1 10409 broad.mit.edu 37 5 17275436 17275436 + Silent SNP G A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:17275436G>A uc003jfx.3 + 1 290 c.111G>A c.(109-111)ccG>ccA p.P37P BASP1_uc021xws.1_Silent_p.P37P NM_006317 NP_006308 P80723 BASP1_HUMAN Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA. 37 glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding endometrium(1)|lung(8) 9 AGGGGACCCCGAAGGAGAGTG 0.647000 38 5 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082963 140082963 + Missense_Mutation SNP C A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr9:140082963C>A uc004clr.1 - 0 95 c.22G>T c.(22-24)Gcg>Tcg p.A8S ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc011mer.1_Missense_Mutation_p.A8S|SSNA1_uc004cls.2_5'Flank NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 8 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) TCCCCCTCCGCCACCACAACT 0.716000 13 10 2.80697e-09 2.90722e-09 1 1 0 OR2H1 26716 broad.mit.edu 37 6 29430168 29430168 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr6:29430168C>T uc003nmi.3 + 2 1065 c.622C>T c.(622-624)Cct>Tct p.P208S OR2H1_uc003nmj.1_Missense_Mutation_p.P208S|OR2H1_uc010jri.2_Missense_Mutation_p.P130S|OR2H1_uc021ytr.1_Missense_Mutation_p.P208S NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 CGTGGTTGTGCCTCTCAGCCT 0.522000 142 4 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123313098 123313098 + Missense_Mutation SNP T C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr9:123313098T>C uc004bkf.3 - 3 459 c.278A>G c.(277-279)cAt>cGt p.H93R CDK5RAP2_uc004bkg.3_Missense_Mutation_p.H93R|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.H93R NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA. 93 G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 AGTGGGGCCATGAAATTCCTG 0.368000 72 27 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 144816656 144816656 + Silent SNP A G G rs9424752 TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr1:144816656A>G uc009wig.1 + 11 1751 c.1557A>G c.(1555-1557)gaA>gaG p.E519E NBPF10_uc010oxo.1_Silent_p.E521E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.E250E|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.E181E NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 521 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) TTGAACGGGAAGATGCTGTAC 0.433000 253 6 0 0 1 0 0 NBEAP1 606 broad.mit.edu 37 15 20874927 20874927 + Missense_Mutation SNP T A A rs62000629 by1000genomes TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr15:20874927T>A uc010tze.1 - 2 418 c.211A>T c.(211-213)Att>Ttt p.I71F NBEAP1_uc010tzd.2_Non-coding_Transcript Homo sapiens neurobeachin pseudogene 1 (NBEAP1), non-coding RNA. GCAGTTCCAATAAATTCAGCA 0.313000 44 8 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38932592 38932592 + Silent SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38932592C>T uc003jln.2 + 16 2724 c.2322C>T c.(2320-2322)atC>atT p.I774I OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 774 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) ATCCTGACATCCCTGACCCTT 0.393000 80 23 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38933185 38933185 + Missense_Mutation SNP C G G TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr5:38933185C>G uc003jln.2 + 17 2981 c.2579C>G c.(2578-2580)aCc>aGc p.T860S OSMR_uc011cpj.2_Missense_Mutation_p.T64S NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 860 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GAGAACTTGACCTATAACCAG 0.478000 283 69 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7174404 7174404 + Missense_Mutation SNP C T T TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr12:7174404C>T uc001qsj.3 + 11 1768 c.1049C>T c.(1048-1050)tCc>tTc p.S350F C1S_uc001qsk.3_Missense_Mutation_p.S350F|C1S_uc001qsl.3_Missense_Mutation_p.S350F|C1S_uc009zfr.3_Missense_Mutation_p.S183F|C1S_uc009zfs.3_Non-coding_Transcript NM_201442 NP_958850 P09871 C1S_HUMAN Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA. 350 Sushi 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TGGAGTAATTCCAAACTGAAA 0.378000 40 11 0 0 1 0 0 CLPTM1 1209 broad.mit.edu 37 19 45480719 45480719 + Splice_Site SNP T C C TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr19:45480719T>C uc002pai.3 + 5 640 c.586_splice c.e5+2 p.M196_splice CLPTM1_uc010ejv.1_Splice_Site_p.M94_splice|CLPTM1_uc010xxf.2_Splice_Site_p.M94_splice|CLPTM1_uc010xxg.2_Splice_Site_p.M182_splice NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 196 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) TGTCCCGGAGTAAGTCGCTCC 0.627000 42 25 0 0 1 0 0 ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T - - TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr3:43647213delT uc003cmv.3 - 1 303 c.132delA c.(130-132)aaafs p.K44fs ANO10_uc011azs.2_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.3_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.3_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.2_Frame_Shift_Del_p.K44fs NM_018075 NP_060545 Q9NW15 ANO10_HUMAN Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA. 44 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 CACCTCCATCTTTTTTTTTAG 0.408 --- 60 --- --- 8 --- HIST1H2AG 8969 broad.mit.edu 37 6 27101004 27101005 + Frame_Shift_Ins INS - A A TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr6:27101004_27101005insA uc003niw.3 + 0 188_189 c.154_155insA c.(154-156)ctgfs p.L52fs HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.3_5'Flank NM_021064 NP_066408 P0C0S8 H2A1_HUMAN Homo sapiens histone cluster 1, H2ag (HIST1H2AG), mRNA. 52 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GCCGGTGTATCTGGCAGCGGTG 0.673 --- 38 --- --- 21 --- MUC6 4588 broad.mit.edu 37 11 1031058 1031059 + Splice_Site INS - G G rs140721287 by1000genomes TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr11:1031058_1031059insG uc001lsw.2 - 6 626 c.575_splice c.e6-1 p.G192_splice NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA. 192 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAACTTGCCTGGGGTGCAGAA 0.703 --- 7 --- --- 4 --- MESP2 145873 broad.mit.edu 37 15 90320121 90320144 + In_Frame_Del DEL AGGGGCAGGGGCAAGGGCAGGGGC - - rs56192595 TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC uc002bon.3 + 0 533_556 c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC c.(532-558)gaggggcaggggcaagggcaggggcag>gag p.GQGQGQGQ195del MESP2_uc010uqa.2_Intron NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA. 195 13 X 2 AA tandem repeats of G-Q. Notch signaling pathway nucleus DNA binding p.Q198_G205delQGQGQGQG(2) kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg 0.777 --- 4 --- --- 4 --- PRKAR1A 5573 broad.mit.edu 37 17 66511682 66511683 + Frame_Shift_Ins INS - AT AT TCGA-EB-A5SF-01A-11D-A30X-08 TCGA-EB-A5SF-10A-01D-A30X-08 Untested Somatic Phase_I WXS none Illumina GAIIx b83edc28-0c08-432e-871f-2a4973332f72 408d6bbf-3301-416b-9499-ce6ef2c0c8ce g.chr17:66511682_66511683insAT uc002jhg.3 + 1 322_323 c.142_143insAT c.(142-144)gcafs p.A48fs PRKAR1A_uc002jhh.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhi.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhj.3_Frame_Shift_Ins_p.A48fs|PRKAR1A_uc002jhk.3_5'UTR|PRKAR1A_uc002jhl.3_Frame_Shift_Ins_p.A48fs NM_212471 NP_997637 P10644 KAP0_HUMAN Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA. 48 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) GAGACCCATGGCATTCCTCAGG 0.436 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of --- 16 --- --- 11 ---