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 ESPNP 284729 broad.mit.edu 37 1 17046492 17046492 + RNA SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:17046492G>T ENST00000492551.1 - 0 160 NR_026567.1 CCTCAGGGAGGGGAAGTCTCC 0.627 5 62 --- --- --- --- UBR4 23352 broad.mit.edu 37 1 19488928 19488928 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:19488928G>T ENST00000375267.2 - 35 4945 c.4942C>A c.(4942-4944)Cag>Aag p.Q1648K UBR4_ENST00000375217.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375226.2_Missense_Mutation_p.Q1648K|UBR4_ENST00000375254.3_Missense_Mutation_p.Q1648K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1648 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCCTCAGCCTGGGAATCTTCC 0.502 8 174 --- --- --- --- DNALI1 7802 broad.mit.edu 37 1 38023281 38023281 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:38023281C>A ENST00000296218.7 + 2 235 c.225C>A c.(223-225)ccC>ccA p.P75P DNALI1_ENST00000541606.1_5'UTR NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 53 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCAAGCTCCCCTCAACTCCCT 0.562 7 202 --- --- --- --- MFSD2A 84879 broad.mit.edu 37 1 40422864 40422864 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:40422864C>A ENST00000372809.5 + 2 342 c.199C>A c.(199-201)Ctt>Att p.L67I MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L67I NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 67 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGGTTTCTTCCTTCAGATCTA 0.532 8 217 --- --- --- --- FOXJ3 22887 broad.mit.edu 37 1 42657173 42657173 + Silent SNP G G T rs1139979 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:42657173G>T ENST00000372572.1 - 11 1463 c.1152C>A c.(1150-1152)ccC>ccA p.P384P FOXJ3_ENST00000372573.1_Silent_p.P384P|FOXJ3_ENST00000361346.1_Silent_p.P384P|FOXJ3_ENST00000545068.1_Silent_p.P384P|FOXJ3_ENST00000361776.1_Silent_p.P350P NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 384 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCGGTCGATGGGGAGGATGTG 0.602 9 194 --- --- --- --- DPYD 1806 broad.mit.edu 37 1 98039454 98039454 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:98039454C>A ENST00000370192.3 - 11 1301 c.1201G>T c.(1201-1203)Ggg>Tgg p.G401W NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 401 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ACAATTCTCCCACCTTTTACT 0.413 5 84 --- --- --- --- DPH5 51611 broad.mit.edu 37 1 101479332 101479332 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:101479332C>A ENST00000370109.3 - 4 415 c.303G>T c.(301-303)ctG>ctT p.L101L DPH5_ENST00000488176.1_Silent_p.L101L|DPH5_ENST00000342173.7_Silent_p.L101L|DPH5_ENST00000370105.3_5'UTR NM_001077394.1|NM_001077395.1|NM_015958.2 NP_001070862.1|NP_001070863.1|NP_057042.2 Q9H2P9 DPH5_HUMAN diphthamide biosynthesis 5 101 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity endometrium(2)|large_intestine(1)|lung(4) 7 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) AAGGAATTCCCAGCTTTGTTG 0.383 6 119 --- --- --- --- CELSR2 1952 broad.mit.edu 37 1 109794119 109794119 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:109794119G>T ENST00000271332.3 + 1 1479 c.1418G>T c.(1417-1419)cGg>cTg p.R473L NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 473 Cadherin 3. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TACACCCTACGGGTGCGAGCA 0.557 6 236 --- --- --- --- ANKRD35 148741 broad.mit.edu 37 1 145561888 145561888 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:145561888C>A ENST00000355594.4 + 10 1663 c.1576C>A c.(1576-1578)Cgt>Agt p.R526S NM_144698.3 NP_653299.4 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 526 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGGGACTCCCCGTGCTGAGGC 0.622 5 186 --- --- --- --- HIST2H2BF 440689 broad.mit.edu 37 1 149783602 149783602 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:149783602G>T ENST00000427880.2 - 1 323 c.277C>A c.(277-279)Cgc>Agc p.R93S HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.R93S|HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.R93S Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 93 nucleosome assembly nucleosome|nucleus DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) TGGATCTCGCGGGATGTGATG 0.647 6 68 --- --- --- --- MTX1 4580 broad.mit.edu 37 1 155181949 155181949 + Missense_Mutation SNP G G T rs139091255 byFrequency TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:155181949G>T ENST00000368376.3 + 4 816 c.710G>T c.(709-711)cGg>cTg p.R237L RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Intron|MTX1_ENST00000495589.1_3'UTR|MTX1_ENST00000609421.1_Missense_Mutation_p.R88L NM_002455.3 NP_002446.2 Q13505 MTX1_HUMAN metaxin 1 237 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTGTCAGCTCGGCAAGGGGCA 0.577 4 63 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167802321 167802321 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:167802321G>T ENST00000367848.1 - 25 3718 c.3221C>A c.(3220-3222)cCt>cAt p.P1074H ADCY10_ENST00000545172.1_Missense_Mutation_p.P1013H|ADCY10_ENST00000367851.4_Missense_Mutation_p.P1166H Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1166 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 TAAGTTGTAAGGAAAGATTCG 0.473 8 352 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 176913135 176913135 + Missense_Mutation SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:176913135C>T ENST00000367654.3 - 14 2504 c.2293G>A c.(2293-2295)Ggt>Agt p.G765S ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TGGTCTAAACCACGAGCAAAG 0.483 17 59 --- --- --- --- ASTN1 460 broad.mit.edu 37 1 177030392 177030392 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:177030392C>A ENST00000367654.3 - 2 504 c.293G>T c.(292-294)gGg>gTg p.G98V ASTN1_ENST00000361833.2_Missense_Mutation_p.G98V|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.G98V|ASTN1_ENST00000424564.2_Missense_Mutation_p.G98V NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTCTGTGTTCCCTGAGATCTC 0.483 6 126 --- --- --- --- RASAL2 9462 broad.mit.edu 37 1 178425884 178425884 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:178425884C>A ENST00000448150.3 + 13 3025 c.2207C>A c.(2206-2208)cCt>cAt p.P736H RASAL2_ENST00000462775.1_Missense_Mutation_p.P606H|RASAL2_ENST00000367649.3_Missense_Mutation_p.P747H NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 606 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GGGCCTCTCCCTCGTGTTCTT 0.448 8 305 --- --- --- --- KCNT2 343450 broad.mit.edu 37 1 196254844 196254844 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:196254844C>T ENST00000367433.5 - 22 2669 c.2568G>A c.(2566-2568)ctG>ctA p.L856L KCNT2_ENST00000609185.1_Silent_p.L806L|KCNT2_ENST00000294725.9_Silent_p.L880L|KCNT2_ENST00000367431.4_Silent_p.L806L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR NM_198503.2 NP_940905.2 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 880 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CAGCAAAAGGCAGTCGAAACA 0.373 15 44 --- --- --- --- G0S2 50486 broad.mit.edu 37 1 209849324 209849324 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:209849324C>A ENST00000367029.4 + 2 457 c.295C>A c.(295-297)Cgg>Agg p.R99R RP1-28O10.1_ENST00000441672.1_RNA NM_015714.3 NP_056529.1 P27469 G0S2_HUMAN G0/G1switch 2 99 cell cycle large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.041) CCTGTCCAACCGGCAGCACGC 0.662 4 49 --- --- --- --- HHAT 55733 broad.mit.edu 37 1 210796981 210796981 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:210796981G>T ENST00000367010.1 + 11 1584 c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W HHAT_ENST00000413764.2_Missense_Mutation_p.G453W|HHAT_ENST00000391905.3_Missense_Mutation_p.G453W|HHAT_ENST00000537898.1_Missense_Mutation_p.G388W|HHAT_ENST00000367009.1_Missense_Mutation_p.G143W|HHAT_ENST00000261458.3_Missense_Mutation_p.G453W|HHAT_ENST00000541565.1_Missense_Mutation_p.G316W|HHAT_ENST00000545154.1_Missense_Mutation_p.G454W|HHAT_ENST00000545781.1_Missense_Mutation_p.G390W|HHAT_ENST00000308852.6_Missense_Mutation_p.G408W NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 453 GTP-binding (Probable). multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CAATGAGGTTGGGAAAACCTA 0.488 8 275 --- --- --- --- COG2 22796 broad.mit.edu 37 1 230824182 230824182 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:230824182C>A ENST00000534989.1 + 15 1826 c.1491C>A c.(1489-1491)tcC>tcA p.S497S COG2_ENST00000366669.4_Silent_p.S556S|COG2_ENST00000366668.3_Silent_p.S555S|COG2_ENST00000490900.1_3'UTR|COG2_ENST00000535166.1_Silent_p.S440S|COG2_ENST00000546013.1_Silent_p.S245S Q14746 COG2_HUMAN component of oligomeric golgi complex 2 556 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3) 27 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TGGAGGACTCCCAGAGCTCTT 0.458 5 86 --- --- --- --- OR2AK2 391191 broad.mit.edu 37 1 248128879 248128879 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:248128879C>A ENST00000366480.3 + 1 345 c.246C>A c.(244-246)tcC>tcA p.S82S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GTCAGCTCTCCATCGTTGACC 0.463 6 161 --- --- --- --- PGBD2 267002 broad.mit.edu 37 1 249212551 249212551 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr1:249212551C>A ENST00000355360.4 + 3 1285 c.1015C>A c.(1015-1017)Cac>Aac p.H339N PGBD2_ENST00000329291.5_Missense_Mutation_p.H590N|PGBD2_ENST00000539153.1_Missense_Mutation_p.H587N NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 590 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CAGGGAGTACCACATCCGGTG 0.478 7 104 --- --- --- --- DYSF 8291 broad.mit.edu 37 2 71816722 71816722 + Splice_Site SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:71816722G>T ENST00000258104.3 + 31 3625 c.e31-1 DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding 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 CGTGTCTCCAGGGCGGCGTGA 0.562 6 126 --- --- --- --- SUCLG1 8802 broad.mit.edu 37 2 84670410 84670410 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:84670410C>A ENST00000393868.2 - 3 526 c.316G>T c.(316-318)Gag>Tag p.E106* NM_003849.3 NP_003840.2 P53597 SUCA_HUMAN succinate-CoA ligase, alpha subunit 106 tricarboxylic acid cycle ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity kidney(4)|large_intestine(4)|lung(2) 10 Succinic acid(DB00139) CTAATTACCTCCTTCACAGTA 0.453 7 152 --- --- --- --- SLC9A2 6549 broad.mit.edu 37 2 103274259 103274259 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:103274259G>T ENST00000233969.2 + 2 668 c.526G>T c.(526-528)Ggg>Tgg p.G176W NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 176 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGCTGTGGTAGGGACACTTTG 0.512 9 334 --- --- --- --- LRP2 4036 broad.mit.edu 37 2 170139490 170139490 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:170139490C>A ENST00000263816.3 - 10 1349 c.1064G>T c.(1063-1065)tGg>tTg p.W355L LRP2_ENST00000443831.1_Missense_Mutation_p.W355L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 355 EGF-like 2. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) ACAAATTCCCCATATCTGGCA 0.423 6 184 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196729546 196729546 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:196729546C>A ENST00000312428.6 - 41 6933 c.6833G>T c.(6832-6834)aGg>aTg p.R2278M NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2278 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity 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 GGTATCCTCCCTCTTGGGATC 0.378 7 179 --- --- --- --- IGFBP5 3488 broad.mit.edu 37 2 217541551 217541551 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:217541551C>A ENST00000233813.4 - 4 1491 c.742G>T c.(742-744)Ggg>Tgg p.G248W NM_000599.3 NP_000590.1 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 248 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding endometrium(1)|large_intestine(3)|lung(1) 5 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCTTCATCCCGTACTTGTCC 0.617 7 168 --- --- --- --- SERPINE2 5270 broad.mit.edu 37 2 224849668 224849668 + Splice_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:224849668C>A ENST00000409840.3 - 6 1346 c.e6-1 SERPINE2_ENST00000447280.2_Splice_Site|SERPINE2_ENST00000258405.4_Splice_Site|SERPINE2_ENST00000409304.1_Splice_Site P07093 GDN_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule heparin binding|receptor binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 17 Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797) Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902) CTTGTCGACCCTAAAGAAATC 0.493 5 47 --- --- --- --- AGAP1 116987 broad.mit.edu 37 2 236792052 236792052 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:236792052C>A ENST00000304032.8 + 10 1694 c.1114C>A c.(1114-1116)Ctg>Atg p.L372M AGAP1_ENST00000428334.2_Missense_Mutation_p.L211M|AGAP1_ENST00000336665.5_Missense_Mutation_p.L372M|AGAP1_ENST00000409538.1_Missense_Mutation_p.L637M NM_001037131.2 NP_001032208.1 Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 ATATGTCACCCTGTGTGACAA 0.443 6 101 --- --- --- --- COL6A3 1293 broad.mit.edu 37 2 238274668 238274668 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr2:238274668C>A ENST00000295550.4 - 12 5963 c.5511G>T c.(5509-5511)ctG>ctT p.L1837L COL6A3_ENST00000409809.1_Silent_p.L1631L|COL6A3_ENST00000472056.1_Silent_p.L1230L|COL6A3_ENST00000346358.4_Silent_p.L1637L|COL6A3_ENST00000353578.4_Silent_p.L1631L|COL6A3_ENST00000347401.3_Silent_p.L1636L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1837 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GAATCACATCCAGATTACAAG 0.502 6 108 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9036052 9036052 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:9036052G>T ENST00000383836.3 - 19 2810 c.2383C>A c.(2383-2385)Cat>Aat p.H795N SRGAP3_ENST00000360413.3_Missense_Mutation_p.H771N NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 795 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) ATGTACTGATGGGGGATGAGT 0.562 T RAF1 pilocytic astrocytoma 5 95 --- --- --- --- SETD5 55209 broad.mit.edu 37 3 9512274 9512274 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:9512274C>A ENST00000402466.1 + 20 3330 c.2562C>A c.(2560-2562)ccC>ccA p.P854P SETD5_ENST00000302463.6_Silent_p.P854P|SETD5_ENST00000407969.1_Silent_p.P971P|SETD5_ENST00000406341.1_Silent_p.P952P|SETD5_ENST00000402198.1_Silent_p.P952P Q9C0A6 SETD5_HUMAN SET domain containing 5 952 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) CCCTCGGACCCACTTCTGAGA 0.502 6 148 --- --- --- --- BRPF1 7862 broad.mit.edu 37 3 9781219 9781219 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:9781219C>A ENST00000383829.2 + 3 1540 c.1136C>A c.(1135-1137)cCa>cAa p.P379Q BRPF1_ENST00000302054.3_Missense_Mutation_p.P379Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000457855.1_Missense_Mutation_p.P379Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P379Q NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 379 histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) CACATCCCACCAGCTCGCTGG 0.572 6 168 --- --- --- --- ATP2B2 491 broad.mit.edu 37 3 10443926 10443926 + Silent SNP C C A rs149226182 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:10443926C>A ENST00000397077.1 - 6 1079 c.504G>T c.(502-504)acG>acT p.T168T ATP2B2_ENST00000352432.4_Silent_p.T168T|ATP2B2_ENST00000383800.4_Silent_p.T168T|ATP2B2_ENST00000360273.2_Silent_p.T168T|ATP2B2_ENST00000343816.4_Silent_p.T168T Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 168 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CATTGAAGGCCGTGACCAGGA 0.612 6 218 --- --- --- --- RTP3 83597 broad.mit.edu 37 3 46539657 46539657 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:46539657C>A ENST00000296142.3 + 1 677 c.105C>A c.(103-105)ccC>ccA p.P35P NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 35 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) GCCTTCTTCCCAACGTCCTGA 0.532 5 75 --- --- --- --- QARS 5859 broad.mit.edu 37 3 49136858 49136858 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:49136858C>A ENST00000306125.6 - 17 1870 c.1533G>T c.(1531-1533)tgG>tgT p.W511C QARS_ENST00000414533.1_Missense_Mutation_p.W500C P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 511 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTGGGTCATCCCAGTCCCTGT 0.577 6 94 --- --- --- --- IQCF1 132141 broad.mit.edu 37 3 51929026 51929026 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:51929026C>A ENST00000310914.5 - 4 560 c.498G>T c.(496-498)cgG>cgT p.R166R NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 166 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TGATGAACCCCCGGGAAGCAC 0.587 7 177 --- --- --- --- FLNB 2317 broad.mit.edu 37 3 58149009 58149009 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:58149009C>A ENST00000295956.4 + 43 7315 c.7150C>A c.(7150-7152)Cct>Act p.P2384T FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000493452.1_Missense_Mutation_p.P2191T|FLNB_ENST00000419752.2_Missense_Mutation_p.P2204T|FLNB_ENST00000358537.3_Missense_Mutation_p.P2360T|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000490882.1_Missense_Mutation_p.P2415T|FLNB_ENST00000348383.5_Missense_Mutation_p.P2343T|FLNB_ENST00000429972.2_Missense_Mutation_p.P2373T NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2384 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding 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) AGCGGGGAACCCTGCCCTGGT 0.587 5 70 --- --- --- --- DNASE1L3 1776 broad.mit.edu 37 3 58196539 58196539 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:58196539C>A ENST00000483681.1 - 3 676 c.95G>T c.(94-96)gGg>gTg p.G32V DNASE1L3_ENST00000318316.3_Missense_Mutation_p.G32V|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.G32V|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.G32V Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 32 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) CTTGCTTTCCCCAAAGGACCT 0.587 7 219 --- --- --- --- ADAMTS9 56999 broad.mit.edu 37 3 64601680 64601680 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:64601680C>A ENST00000498707.1 - 20 3322 c.2980G>T c.(2980-2982)Ggg>Tgg p.G994W ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G966W NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 994 TSP type-1 3. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TTACATTCCCCTGAGCATTTT 0.483 8 304 --- --- --- --- NIT2 56954 broad.mit.edu 37 3 100059940 100059940 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:100059940G>T ENST00000394140.4 + 4 362 c.271G>T c.(271-273)Ggg>Tgg p.G91W NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 AGAGGATGCTGGGAAATTATA 0.373 4 41 --- --- --- --- ABI3BP 25890 broad.mit.edu 37 3 100489676 100489676 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:100489676G>T ENST00000471714.1 - 61 4734 c.4625C>A c.(4624-4626)cCa>cAa p.P1542Q ABI3BP_ENST00000284322.5_Missense_Mutation_p.P840Q|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P794Q Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 840 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GTTGGTGGGTGGGTTCTGTGG 0.537 6 135 --- --- --- --- TIMMDC1 51300 broad.mit.edu 37 3 119217641 119217641 + Silent SNP C C A rs148112033 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:119217641C>A ENST00000494664.1 + 1 263 c.61C>A c.(61-63)Cga>Aga p.R21R TIMMDC1_ENST00000493694.1_Silent_p.R21R NM_016589.3 NP_057673.2 Q9NPL8 TIDC1_HUMAN translocase of inner mitochondrial membrane domain containing 1 21 integral to membrane|mitochondrial inner membrane protein transporter activity autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 15 CCTATTTCCCCGAGTCTTTGC 0.587 7 233 --- --- --- --- HSPBAP1 79663 broad.mit.edu 37 3 122459555 122459555 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:122459555G>A ENST00000306103.2 - 8 1247 c.1104C>T c.(1102-1104)ggC>ggT p.G368G HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 368 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) TACCTGTTTGGCCCACCTCCA 0.502 29 296 --- --- --- --- ZNF148 7707 broad.mit.edu 37 3 124952115 124952115 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:124952115C>A ENST00000360647.4 - 9 1940 c.1455G>T c.(1453-1455)agG>agT p.R485S ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R485S|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.R485S|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R485S NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 485 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 GCGCATATTCCCTGCTGTTGT 0.448 7 172 --- --- --- --- MGLL 11343 broad.mit.edu 37 3 127540540 127540540 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:127540540G>T ENST00000434178.2 - 2 1018 c.122C>A c.(121-123)cCc>cAc p.P41H MGLL_ENST00000265052.5_Missense_Mutation_p.P51H|MGLL_ENST00000398104.1_Missense_Mutation_p.P41H|MGLL_ENST00000453507.2_Missense_Mutation_p.P51H Q99685 MGLL_HUMAN monoglyceride lipase 41 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 GACTTACTTGGGTGTGCCTGT 0.602 5 86 --- --- --- --- BFSP2 8419 broad.mit.edu 37 3 133119045 133119045 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:133119045C>A ENST00000302334.2 + 1 207 c.118C>A c.(118-120)Cca>Aca p.P40T NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 40 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 GGAGAGCCCCCCAGCCTCCAG 0.652 6 77 --- --- --- --- DHX36 170506 broad.mit.edu 37 3 154042043 154042043 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:154042043C>A ENST00000496811.1 - 1 243 c.163G>T c.(163-165)Ggg>Tgg p.G55W DHX36_ENST00000308361.6_Missense_Mutation_p.G55W|DHX36_ENST00000329463.5_Missense_Mutation_p.G55W|DHX36_ENST00000544526.1_Missense_Mutation_p.G55W NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 55 Gly-rich. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTCAGGTGCCCGGGATGCCGG 0.647 6 124 --- --- --- --- MCF2L2 23101 broad.mit.edu 37 3 183059415 183059415 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:183059415C>A ENST00000328913.3 - 4 576 c.279G>T c.(277-279)gtG>gtT p.V93V MCF2L2_ENST00000447025.2_Silent_p.V93V|MCF2L2_ENST00000414362.2_Silent_p.V93V|MCF2L2_ENST00000473233.1_Silent_p.V93V NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 93 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TGGCAGCCTCCACACTGCAAA 0.483 4 39 --- --- --- --- SST 6750 broad.mit.edu 37 3 187386923 187386923 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:187386923G>T ENST00000287641.3 - 2 388 c.281C>A c.(280-282)cCg>cAg p.P94Q NM_001048.3 NP_001039.1 P61278 SMS_HUMAN somatostatin 94 digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission extracellular space hormone activity kidney(1)|large_intestine(1)|lung(6)|pancreas(1) 9 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.00444) Bromocriptine(DB01200)|Cysteamine(DB00847) TGCCATAGCCGGGTTTGAGTT 0.488 7 331 --- --- --- --- PAK2 5062 broad.mit.edu 37 3 196509570 196509570 + Missense_Mutation SNP T T A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr3:196509570T>A ENST00000327134.3 + 2 375 c.53T>A c.(52-54)aTg>aAg p.M18K NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 18 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCTGTGCGAATGAGCAGCACC 0.443 10 216 --- --- --- --- ZNF518B 85460 broad.mit.edu 37 4 10445720 10445720 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:10445720A>G ENST00000326756.3 - 3 2671 c.2233T>C c.(2233-2235)Tat>Cat p.Y745H NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 745 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 AAGTGTGGATATATTTGTTGA 0.468 27 112 --- --- --- --- BOD1L1 259282 broad.mit.edu 37 4 13616973 13616973 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:13616973G>T ENST00000040738.5 - 3 657 c.522C>A c.(520-522)ccC>ccA p.P174P NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 174 DNA binding TCTCATCATCGGGAGCTGTGT 0.423 7 266 --- --- --- --- SLIT2 9353 broad.mit.edu 37 4 20255609 20255609 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:20255609C>A ENST00000504154.1 + 1 423 c.171C>A c.(169-171)acC>acA p.T57T SLIT2_ENST00000273739.5_Silent_p.T57T|SLIT2_ENST00000503823.1_Silent_p.T57T|SLIT2_ENST00000503837.1_Silent_p.T57T NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 57 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.T57T(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCCGCAACACCGAGAGACTGT 0.677 4 107 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38119787 38119787 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:38119787C>A ENST00000261439.4 + 17 3291 c.2936C>A c.(2935-2937)cCg>cAg p.P979Q TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Intron NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 979 Rab-GAP TBC. nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 TCACAGTTCCCGCTGGGATTC 0.527 5 159 --- --- --- --- NFKB1 4790 broad.mit.edu 37 4 103528395 103528395 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:103528395G>T ENST00000226574.4 + 18 2510 c.2043G>T c.(2041-2043)caG>caT p.Q681H NFKB1_ENST00000505458.1_Missense_Mutation_p.Q680H|NFKB1_ENST00000600343.1_Missense_Mutation_p.Q500H|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q680H 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 1 680 Interaction with CFLAR. 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 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) TCAATGCTCAGGAGCAGAAGT 0.567 6 115 --- --- --- --- TBCK 93627 broad.mit.edu 37 4 107092337 107092337 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:107092337G>T ENST00000273980.5 - 24 2597 c.2150C>A c.(2149-2151)cCa>cAa p.P717Q TBCK_ENST00000361687.4_Missense_Mutation_p.P654Q|TBCK_ENST00000394706.3_Missense_Mutation_p.P678Q|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000432496.2_Missense_Mutation_p.P717Q|TBCK_ENST00000394708.2_Missense_Mutation_p.P717Q Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 AGATGGCTTTGGAGGTTGAGC 0.443 6 128 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114275162 114275162 + Silent SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:114275162C>T ENST00000357077.4 + 38 5441 c.5388C>T c.(5386-5388)gaC>gaT p.D1796D ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 1763 Repeat-rich region. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAAGGAGGACGTGCCAAAAA 0.517 22 130 --- --- --- --- KIAA1109 84162 broad.mit.edu 37 4 123179972 123179972 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:123179972C>A ENST00000264501.4 + 42 7109 c.6736C>A c.(6736-6738)Cat>Aat p.H2246N KIAA1109_ENST00000455637.1_Missense_Mutation_p.H2246N|KIAA1109_ENST00000388738.3_Missense_Mutation_p.H2246N Q2LD37 K1109_HUMAN KIAA1109 2246 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus 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 AACTCATACCCATAGTGACTC 0.363 4 39 --- --- --- --- INTU 27152 broad.mit.edu 37 4 128626838 128626838 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:128626838A>G ENST00000335251.6 + 11 1762 c.1659A>G c.(1657-1659)aaA>aaG p.K553K INTU_ENST00000512995.1_3'UTR NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TAGCAGCAAAACAAAGAATTG 0.438 25 127 --- --- --- --- GUCY1A3 2982 broad.mit.edu 37 4 156643199 156643199 + Nonsense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:156643199G>T ENST00000296518.7 + 9 1935 c.1726G>T c.(1726-1728)Gga>Tga p.G576* GUCY1A3_ENST00000455639.2_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511108.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000393832.3_Nonsense_Mutation_p.G318*|GUCY1A3_ENST00000506455.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000513574.1_Nonsense_Mutation_p.G576*|GUCY1A3_ENST00000511507.1_Nonsense_Mutation_p.G576* Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 576 Guanylate cyclase. blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) GATGCGAATTGGACTGCACTC 0.403 7 236 --- --- --- --- GALNTL6 442117 broad.mit.edu 37 4 173734829 173734829 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:173734829C>A ENST00000506823.1 + 7 1535 c.878C>A c.(877-879)cCc>cAc p.P293H GALNTL6_ENST00000508122.1_Missense_Mutation_p.P276H NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 293 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AAAAGAATCCCCATCCCTCCA 0.557 6 52 --- --- --- --- WDR17 116966 broad.mit.edu 37 4 177052766 177052766 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr4:177052766C>A ENST00000393643.2 + 7 1227 c.975C>A c.(973-975)ccC>ccA p.P325P WDR17_ENST00000507824.2_Silent_p.P332P|WDR17_ENST00000280190.4_Silent_p.P349P|WDR17_ENST00000508596.1_Silent_p.P325P NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 349 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CAGTTCCACCCCCAACTTTAA 0.388 8 179 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 37020937 37020937 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:37020937C>A ENST00000282516.8 + 27 5785 c.5286C>A c.(5284-5286)tcC>tcA p.S1762S NIPBL_ENST00000448238.2_Silent_p.S1762S NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 1762 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ACTTGGCCTCCATGAGGCCGT 0.348 7 250 --- --- --- --- C9 735 broad.mit.edu 37 5 39311238 39311238 + Splice_Site SNP C C T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:39311238C>T ENST00000263408.4 - 7 1207 c.e7+1 NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TCTAGGCATACCTTTCCGCTT 0.368 17 45 --- --- --- --- FBXO4 26272 broad.mit.edu 37 5 41939622 41939622 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:41939622G>T ENST00000281623.3 + 6 1034 c.978G>T c.(976-978)ttG>ttT p.L326F FBXO4_ENST00000509134.1_Intron NM_012176.2 NP_036308.1 Q9UKT5 FBX4_HUMAN F-box protein 4 326 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GACCATTGTTGGTTTTATCTT 0.393 7 134 --- --- --- --- FGF10 2255 broad.mit.edu 37 5 44388499 44388499 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:44388499C>A ENST00000264664.4 - 1 400 c.286G>T c.(286-288)Ggg>Tgg p.G96W NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 96 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) CTGACCTTCCCGTTCTTCTCA 0.532 6 90 --- --- --- --- SPATA9 83890 broad.mit.edu 37 5 95018262 95018262 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:95018262G>T ENST00000274432.8 - 2 261 c.120C>A c.(118-120)ccC>ccA p.P40P RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000395899.3_Silent_p.P40P|SPATA9_ENST00000477047.2_5'UTR NM_031952.3 NP_114158.2 Q9BWV2 SPAT9_HUMAN spermatogenesis associated 9 40 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane large_intestine(3)|lung(4) 7 all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198) all cancers(79;8.91e-16) TTAGGATGGTGGGAAATTCAT 0.308 6 93 --- --- --- --- RIOK2 55781 broad.mit.edu 37 5 96518937 96518937 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:96518937C>A ENST00000509481.1 + 4 799 c.258C>A c.(256-258)gcC>gcA p.A86A RIOK2_ENST00000283109.3_5'UTR urinary_tract(1) 1 CGACGACAGCCGCAAAGCGTA 0.557 4 90 --- --- --- --- ZNF608 57507 broad.mit.edu 37 5 124036819 124036819 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:124036819C>A ENST00000306315.5 - 2 1485 c.1050G>T c.(1048-1050)gtG>gtT p.V350V ZNF608_ENST00000504926.1_5'UTR NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 350 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) TATTGACACCCACAGAACGAG 0.512 5 82 --- --- --- --- C5orf56 441108 broad.mit.edu 37 5 131796342 131796342 + Silent SNP C C A rs140600303 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:131796342C>A ENST00000337752.2 + 4 308 c.177C>A c.(175-177)ccC>ccA p.P59P C5orf56_ENST00000407797.1_Intron|C5orf56_ENST00000378953.4_Intron Q8N8D9 CE056_HUMAN chromosome 5 open reading frame 56 59 p.P59P(1) breast(1)|endometrium(1)|large_intestine(1)|lung(3) 6 ctgccttccccgtggagtaca 0.483 6 218 --- --- --- --- SEPT8 23176 broad.mit.edu 37 5 132098260 132098260 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:132098260C>A ENST00000296873.7 - 5 895 c.612G>T c.(610-612)atG>atT p.M204I SEPT8_ENST00000378699.2_Missense_Mutation_p.M144I|SEPT8_ENST00000448933.1_Missense_Mutation_p.M144I|SEPT8_ENST00000378701.1_Missense_Mutation_p.M202I|SEPT8_ENST00000378719.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378721.4_Missense_Mutation_p.M202I|SEPT8_ENST00000458488.2_Missense_Mutation_p.M204I|SEPT8_ENST00000378706.1_Missense_Mutation_p.M204I NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 204 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCAACTCGCCCATGATCTTGA 0.532 5 98 --- --- --- --- KDM3B 51780 broad.mit.edu 37 5 137722057 137722057 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:137722057G>T ENST00000314358.5 + 7 1327 c.1127G>T c.(1126-1128)gGg>gTg p.G376V KDM3B_ENST00000394866.1_Missense_Mutation_p.G32V NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 376 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CCTGTAGGTGGGGACACACCT 0.522 11 285 --- --- --- --- CD14 929 broad.mit.edu 37 5 140011612 140011612 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:140011612G>T ENST00000302014.6 - 2 1586 c.957C>A c.(955-957)ccC>ccA p.P319P CD14_ENST00000401743.2_Silent_p.P319P NM_000591.3 NP_000582.1 P08571 CD14_HUMAN CD14 molecule 319 apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity endometrium(1)|large_intestine(1)|lung(3)|pancreas(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCCACCTCGGGCAGCTCGT 0.627 4 43 --- --- --- --- PCDHGC3 5098 broad.mit.edu 37 5 140857427 140857427 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:140857427C>A ENST00000308177.3 + 1 1848 c.1744C>A c.(1744-1746)Cga>Aga p.R582R PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGCTGCCTCGAGGTACCTC 0.582 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 54 --- --- --- --- DPYSL3 1809 broad.mit.edu 37 5 146773669 146773669 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:146773669C>A ENST00000343218.5 - 14 2181 c.1984G>T c.(1984-1986)Ggg>Tgg p.G662W DPYSL3_ENST00000398514.3_Missense_Mutation_p.G548W|DPYSL3_ENST00000534907.1_Missense_Mutation_p.G174W NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 548 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCGAACCCCCTCATCCACT 0.537 6 73 --- --- --- --- STC2 8614 broad.mit.edu 37 5 172752929 172752929 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr5:172752929C>A ENST00000265087.4 - 2 1545 c.236G>T c.(235-237)cGg>cTg p.R79L NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 79 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATGTAAGCCCCGAATCTCACA 0.468 9 357 --- --- --- --- HIST1H4A 8359 broad.mit.edu 37 6 26021990 26021990 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:26021990G>T ENST00000359907.3 + 1 84 c.84G>T c.(82-84)caG>caT p.Q28H NM_003538.3 NP_003529.1 P62805 H4_HUMAN histone cluster 1, H4a 28 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding large_intestine(1)|skin(1) 2 ACAACATCCAGGGCATCACCA 0.622 5 57 --- --- --- --- TULP1 7287 broad.mit.edu 37 6 35477698 35477698 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:35477698C>A ENST00000229771.6 - 6 586 c.507G>T c.(505-507)ctG>ctT p.L169L TULP1_ENST00000322263.4_Silent_p.L116L NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 169 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 CAGGGCTTCCCAGGTCTCCTG 0.567 5 110 --- --- --- --- DNAH8 1769 broad.mit.edu 37 6 38747769 38747769 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:38747769G>T ENST00000359357.3 + 13 1670 c.1416G>T c.(1414-1416)ctG>ctT p.L472L DNAH8_ENST00000441566.1_Silent_p.L472L|DNAH8_ENST00000449981.2_Silent_p.L689L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TTCCCTGTCTGGGATTAGAAA 0.343 5 45 --- --- --- --- CUL9 23113 broad.mit.edu 37 6 43188277 43188277 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:43188277C>A ENST00000252050.4 + 32 6447 c.6363C>A c.(6361-6363)ccC>ccA p.P2121P CUL9_ENST00000354495.3_Silent_p.P2011P|CUL9_ENST00000372647.2_Silent_p.P2093P|RP3-330M21.5_ENST00000500590.1_RNA NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 2121 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCGACTGCCCCGCCCAGCCCA 0.582 6 220 --- --- --- --- BAI3 577 broad.mit.edu 37 6 70049277 70049277 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:70049277A>T ENST00000370598.1 + 26 4161 c.3340A>T c.(3340-3342)Atg>Ttg p.M1114L BAI3_ENST00000238918.8_Missense_Mutation_p.M320L|BAI3_ENST00000546190.1_Missense_Mutation_p.M78L NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1114 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTTGACGTGGATGTCTGCGGT 0.453 44 171 --- --- --- --- L3MBTL3 84456 broad.mit.edu 37 6 130425710 130425710 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:130425710C>A ENST00000529410.1 + 21 2355 c.1876C>A c.(1876-1878)Cct>Act p.P626T L3MBTL3_ENST00000526019.1_Missense_Mutation_p.P601T|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.P626T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.P601T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.P601T Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 626 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.P626T(1) cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CTCTTCTTCCCCTGAAATCAG 0.348 7 128 --- --- --- --- TAAR8 83551 broad.mit.edu 37 6 132874239 132874239 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:132874239C>A ENST00000275200.1 + 1 408 c.408C>A c.(406-408)ccC>ccA p.P136P NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 136 plasma membrane G-protein coupled receptor activity endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TTACTGATCCCCTGGTCTATG 0.488 10 392 --- --- --- --- AHI1 54806 broad.mit.edu 37 6 135679325 135679325 + Splice_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:135679325C>A ENST00000367800.4 - 22 3326 c.3110G>T c.(3109-3111)gGg>gTg p.G1037V AHI1_ENST00000457866.2_Splice_Site_p.G1037V|AHI1_ENST00000417892.2_Splice_Site_p.G391V NM_001134830.1 NP_001128302.1 Q8N157 AHI1_HUMAN Abelson helper integration site 1 1037 adherens junction|cilium|microtubule basal body NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1) 37 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GCTGATAATCCCTGTGGAAAG 0.343 11 367 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136597547 136597547 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:136597547C>A ENST00000531224.1 - 5 1368 c.1116G>T c.(1114-1116)gaG>gaT p.E372D BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527536.1_Missense_Mutation_p.E372D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E370D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E370D|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E370D NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 372 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCCATTCTCCCTCTGCCCTCC 0.433 9 382 --- --- --- --- UTRN 7402 broad.mit.edu 37 6 145093097 145093097 + Silent SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:145093097A>G ENST00000367545.3 + 58 8550 c.8550A>G c.(8548-8550)caA>caG p.Q2850Q UTRN_ENST00000367526.4_Silent_p.Q405Q NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2850 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 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) AACTCTTTCAATCCCTTGGTA 0.269 4 85 --- --- --- --- EPM2A 7957 broad.mit.edu 37 6 145948584 145948584 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:145948584C>A ENST00000367519.3 - 4 1489 c.964G>T c.(964-966)Ggg>Tgg p.G322W NM_005670.3 NP_005661.1 O95278 EPM2A_HUMAN epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) 322 glycogen metabolic process cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1) 7 Ovarian(120;0.162) OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203) CGAACCTTCCCAAATTTCTGG 0.522 6 164 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755763 146755763 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:146755763C>A ENST00000361719.2 + 9 3886 c.3416C>A c.(3415-3417)cCg>cAg p.P1139Q GRM1_ENST00000282753.1_Missense_Mutation_p.P1139Q|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1139 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity 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) AAACTGACCCCGGATGATTCG 0.657 5 96 --- --- --- --- RAET1E 135250 broad.mit.edu 37 6 150209736 150209736 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:150209736C>A ENST00000357183.4 - 4 822 c.690G>T c.(688-690)ctG>ctT p.L230L RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L194L|RAET1E-AS1_ENST00000605899.1_RNA|RAET1E_ENST00000532335.1_Intron NM_139165.2 NP_631904.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 230 antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) TGAATGCCCCCAGGATGATCC 0.418 6 84 --- --- --- --- RAET1E 135250 broad.mit.edu 37 6 150211085 150211085 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:150211085C>A ENST00000532335.1 - 3 628 c.282G>T c.(280-282)ctG>ctT p.L94L RAET1E_ENST00000357183.4_Silent_p.L94L|RAET1E_ENST00000529948.1_Silent_p.L94L|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E_ENST00000367363.3_Silent_p.L58L|RAET1E-AS1_ENST00000605899.1_RNA NM_001243328.1 NP_001230257.1 Q8TD07 N2DL4_HUMAN retinoic acid early transcript 1E 94 MHC class I alpha-1 like. antigen processing and presentation|immune response|regulation of immune response integral to membrane|MHC class I protein complex protein binding cervix(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.58e-12) CCACTTCTCCCAGCGTTTGGG 0.532 5 101 --- --- --- --- ULBP3 79465 broad.mit.edu 37 6 150386567 150386567 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:150386567G>T ENST00000367339.2 - 3 623 c.595C>A c.(595-597)Ctg>Atg p.L199M ULBP3_ENST00000438272.2_Missense_Mutation_p.L199M Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CTGTGCATCAGGAAGTCCCTA 0.532 7 110 --- --- --- --- PLEKHG1 57480 broad.mit.edu 37 6 151130591 151130591 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:151130591C>A ENST00000367328.1 + 10 1482 c.1170C>A c.(1168-1170)ccC>ccA p.P390P PLEKHG1_ENST00000358517.2_Silent_p.P390P NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 390 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACAAGAATCCCAAGCTGCAGC 0.552 6 106 --- --- --- --- LPAL2 80350 broad.mit.edu 37 6 160903810 160903810 + RNA SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:160903810C>A ENST00000335388.5 - 0 1073 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) TGTCCATTACCGTGGTAGCAC 0.478 6 284 --- --- --- --- PLG 5340 broad.mit.edu 37 6 161162389 161162389 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:161162389C>A ENST00000308192.9 + 17 2128 c.2065C>A c.(2065-2067)Cca>Aca p.P689T NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 689 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCTGCCATCCCCAAATTATGT 0.478 5 70 --- --- --- --- T 6862 broad.mit.edu 37 6 166580170 166580170 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr6:166580170G>T ENST00000296946.2 - 3 849 c.381C>A c.(379-381)ccC>ccA p.P127P T_ENST00000366871.3_Silent_p.P127P NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 127 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) TGGGCGAGTCGGGGTGGATGT 0.652 Chordoma, Familial Clustering of 5 98 --- --- --- --- HEATR2 54919 broad.mit.edu 37 7 796443 796443 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:796443G>T ENST00000297440.6 + 6 1302 c.1282G>T c.(1282-1284)Ggg>Tgg p.G428W HEATR2_ENST00000313147.5_Missense_Mutation_p.G428W NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 428 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) AGAGCTCGTCGGGACGTTTGT 0.607 5 208 --- --- --- --- BRAT1 221927 broad.mit.edu 37 7 2583464 2583464 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:2583464C>A ENST00000340611.4 - 5 819 c.563G>T c.(562-564)gGg>gTg p.G188V NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 188 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CCAGTCACCCCCCGGCAGGCA 0.662 6 93 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11514043 11514043 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:11514043C>A ENST00000423059.4 - 8 2421 c.2170G>T c.(2170-2172)Ggg>Tgg p.G724W AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A TSP type-1 7. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GAGGCCTCCCCATTCCAAGTC 0.517 HNSCC(18;0.044) 5 109 --- --- --- --- NFE2L3 9603 broad.mit.edu 37 7 26225294 26225294 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:26225294C>A ENST00000056233.3 + 4 2235 c.1976C>A c.(1975-1977)cCc>cAc p.P659H NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 659 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 CCAGTCAATCCCAACCACTAT 0.403 5 78 --- --- --- --- PLEKHA8 84725 broad.mit.edu 37 7 30084733 30084733 + Nonsense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:30084733G>T ENST00000449726.1 + 2 423 c.73G>T c.(73-75)Gga>Tga p.G25* PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000258679.7_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396257.2_Nonsense_Mutation_p.G25*|PLEKHA8_ENST00000396259.1_Nonsense_Mutation_p.G25* NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 25 PH. protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TCTCTGTGGGGGAATATTGTC 0.433 7 162 --- --- --- --- DDC 1644 broad.mit.edu 37 7 50595942 50595942 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:50595942C>A ENST00000444124.2 - 6 807 c.607G>T c.(607-609)Gga>Tga p.G203* DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Nonsense_Mutation_p.G125*|DDC_ENST00000431062.1_Intron|DDC_ENST00000357936.5_Nonsense_Mutation_p.G203*|DDC_ENST00000380984.4_Nonsense_Mutation_p.G203* NM_001082971.1 NP_001076440 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 203 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) AATTTCACTCCACCAATTAAC 0.532 7 134 --- --- --- --- DDC 1644 broad.mit.edu 37 7 50611679 50611679 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:50611679G>T ENST00000444124.2 - 2 305 c.105C>A c.(103-105)ccC>ccA p.P35P DDC_ENST00000426377.1_Silent_p.P35P|DDC_ENST00000431062.1_Silent_p.P35P|DDC_ENST00000357936.5_Silent_p.P35P|DDC_ENST00000380984.4_Silent_p.P35P NM_001082971.1 NP_001076440 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 35 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GCAGGTACCCGGGCTCCACGT 0.567 6 226 --- --- --- --- EIF4H 7458 broad.mit.edu 37 7 73609077 73609077 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:73609077G>T ENST00000265753.8 + 6 615 c.476G>T c.(475-477)aGg>aTg p.R159M EIF4H_ENST00000353999.6_Missense_Mutation_p.R139M|EIF4H_ENST00000495187.1_3'UTR NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H 159 interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 TCAGGCTTCAGGGATGACTTC 0.527 7 169 --- --- --- --- LMTK2 22853 broad.mit.edu 37 7 97822767 97822767 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:97822767C>A ENST00000297293.5 + 11 3283 c.2990C>A c.(2989-2991)cCg>cAg p.P997Q NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 997 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CTGGAAACCCCGGACTCTCTG 0.592 7 186 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98565107 98565107 + Splice_Site SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:98565107G>T ENST00000359863.4 + 50 7486 c.e50-1 TRRAP_ENST00000355540.3_Splice_Site|TRRAP_ENST00000446306.3_Splice_Site NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGTGTTACAGGGATGAGACC 0.532 5 66 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128486957 128486957 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:128486957C>A ENST00000325888.8 + 24 4547 c.4286C>A c.(4285-4287)cCa>cAa p.P1429Q FLNC_ENST00000346177.6_Missense_Mutation_p.P1429Q NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1429 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CGGCCCATCCCAGGTGTGCAG 0.582 5 76 --- --- --- --- TRBV6-9 28598 broad.mit.edu 37 7 142104184 142104184 + RNA SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr7:142104184G>T ENST00000390379.1 - 0 280 CAGCCTGAGCGGGAAATCCTC 0.517 6 230 --- --- --- --- HR 55806 broad.mit.edu 37 8 21986433 21986433 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:21986433C>A ENST00000381418.4 - 2 1731 c.251G>T c.(250-252)gGg>gTg p.G84V HR_ENST00000312841.8_Missense_Mutation_p.G84V NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 84 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTTCCTCTCCCCATTCTGGGG 0.667 5 66 --- --- --- --- RHOBTB2 23221 broad.mit.edu 37 8 22865544 22865544 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:22865544C>A ENST00000251822.6 + 6 2077 c.1540C>A c.(1540-1542)Cac>Aac p.H514N RHOBTB2_ENST00000522948.1_Missense_Mutation_p.H521N|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.H536N NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 514 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CATCAGCGCCCACAAGCCCCT 0.562 5 76 --- --- --- --- PRKDC 5591 broad.mit.edu 37 8 48771540 48771540 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:48771540C>A ENST00000314191.2 - 48 6268 c.6212G>T c.(6211-6213)cGg>cTg p.R2071L PRKDC_ENST00000338368.3_Missense_Mutation_p.R2071L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2072 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CGTGGGGTCCCGCTGCTCCTG 0.602 Non-homologous end-joining 6 207 --- --- --- --- KCNB2 9312 broad.mit.edu 37 8 73849836 73849836 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:73849836C>A ENST00000523207.1 + 3 2834 c.2246C>A c.(2245-2247)cCg>cAg p.P749Q NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 749 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTCACTACCCCGCAGCACATC 0.557 9 205 --- --- --- --- CDH17 1015 broad.mit.edu 37 8 95183129 95183129 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:95183129C>A ENST00000027335.3 - 8 992 c.868G>T c.(868-870)Gga>Tga p.G290* CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.G290* NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 290 Cadherin 3. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TAAATATCTCCTTCCTGGTCA 0.468 6 167 --- --- --- --- RRM2B 50484 broad.mit.edu 37 8 103231175 103231175 + Splice_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr8:103231175C>A ENST00000251810.3 - 6 794 c.551G>T c.(550-552)gGg>gTg p.G184V RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Splice_Site_p.G132V|RRM2B_ENST00000519317.1_Intron NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 184 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) CACTCTTTCCCCTGGGAGACA 0.363 Modulation of nucleotide pools 10 155 --- --- --- --- DDX58 23586 broad.mit.edu 37 9 32467791 32467791 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr9:32467791C>A ENST00000379882.1 - 14 2176 c.2019G>T c.(2017-2019)gtG>gtT p.V673V DDX58_ENST00000379883.2_Silent_p.V718V|DDX58_ENST00000545044.1_Silent_p.V515V|DDX58_ENST00000379868.1_Silent_p.V515V|DDX58_ENST00000542096.1_Silent_p.V647V O95786 DDX58_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 718 Helicase C-terminal. detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;0.00056) TGACATTGCCCACATACTCAT 0.403 5 85 --- --- --- --- KIF24 347240 broad.mit.edu 37 9 34310909 34310909 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr9:34310909G>T ENST00000379166.2 - 2 555 c.436C>A c.(436-438)Cag>Aag p.Q146K KIF24_ENST00000345050.2_Missense_Mutation_p.Q146K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q146K|KIF24_ENST00000402558.2_Missense_Mutation_p.Q146K NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 146 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) GTATGGTACTGGGAATCATCT 0.398 7 225 --- --- --- --- PTPDC1 138639 broad.mit.edu 37 9 96850149 96850149 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr9:96850149C>A ENST00000375360.3 + 4 631 c.291C>A c.(289-291)tcC>tcA p.S97S PTPDC1_ENST00000288976.3_Silent_p.S149S NM_001253830.1|NM_177995.2 NP_001240759.1|NP_818931.1 A2A3K4 PTPC1_HUMAN protein tyrosine phosphatase domain containing 1 97 protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 32 CCCGCCCATCCTCTGAGCTCC 0.463 7 160 --- --- --- --- ADAMTS13 11093 broad.mit.edu 37 9 136307563 136307563 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr9:136307563C>A ENST00000371929.3 + 17 2456 c.2012C>A c.(2011-2013)cCa>cAa p.P671Q ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P640Q|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P671Q|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000536611.1_Intron NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 671 Spacer. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CTCACCCGCCCAGACATCACC 0.622 6 107 --- --- --- --- APBB1IP 54518 broad.mit.edu 37 10 26800829 26800829 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:26800829C>A ENST00000376236.4 + 7 1140 c.685C>A c.(685-687)Caa>Aaa p.Q229K NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 229 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 CCCGGAACTACAAATTGGTAA 0.433 5 101 --- --- --- --- CCDC7 221016 broad.mit.edu 37 10 32833174 32833174 + Splice_Site SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:32833174G>T ENST00000362006.5 + 14 1622 c.e14-1 CCDC7_ENST00000277657.6_Splice_Site|C10orf68_ENST00000572165.1_Splice_Site NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) TTATGTTACAGGAAGATGTCT 0.294 5 97 --- --- --- --- ZNF248 57209 broad.mit.edu 37 10 38120875 38120875 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:38120875C>A ENST00000395867.3 - 6 1958 c.1408G>T c.(1408-1410)Ggg>Tgg p.G470W ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.G470W|ZNF248_ENST00000494133.1_Intron|AL135791.1_ENST00000583461.1_RNA NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 470 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 AAGGATTTCCCACATGCATTA 0.433 6 116 --- --- --- --- UNC5B 219699 broad.mit.edu 37 10 73050841 73050841 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:73050841C>A ENST00000335350.6 + 9 1685 c.1269C>A c.(1267-1269)ccC>ccA p.P423P UNC5B_ENST00000373192.4_Silent_p.P412P NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 423 apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GTTTCCACCCCGTCAACTTTA 0.597 7 279 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81050862 81050862 + Silent SNP C C A rs149025019 byFrequency TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:81050862C>A ENST00000334512.5 + 10 1259 c.687C>A c.(685-687)ccC>ccA p.P229P ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 229 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGGCTGGCCCCGCTCAGCCCT 0.672 5 79 --- --- --- --- XPNPEP1 7511 broad.mit.edu 37 10 111633186 111633186 + Splice_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:111633186C>A ENST00000502935.1 - 16 1511 c.e16-1 XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000369680.4_Splice_Site Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, soluble bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1) 31 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) GGTGCCATCCCTTTCCAAAAA 0.458 5 113 --- --- --- --- LRRC27 80313 broad.mit.edu 37 10 134165144 134165144 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr10:134165144C>A ENST00000392638.2 + 8 1250 c.1055C>A c.(1054-1056)cCg>cAg p.P352Q LRRC27_ENST00000368612.1_Silent_p.P258P|LRRC27_ENST00000368615.3_Silent_p.P320P|LRRC27_ENST00000368613.4_Silent_p.P320P|LRRC27_ENST00000432555.2_Silent_p.P193P|LRRC27_ENST00000344079.5_Missense_Mutation_p.P352Q|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368610.3_Silent_p.P258P|LRRC27_ENST00000368614.3_Silent_p.P320P Q9C0I9 LRC27_HUMAN leucine rich repeat containing 27 0 p.P320P(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) GCATCTTACCCGACCTCTTGT 0.502 9 244 --- --- --- --- ST5 6764 broad.mit.edu 37 11 8737329 8737329 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:8737329C>A ENST00000534127.1 - 9 2051 c.1666G>T c.(1666-1668)Ggg>Tgg p.G556W ST5_ENST00000530991.1_Missense_Mutation_p.G28W|ST5_ENST00000313726.6_Missense_Mutation_p.G556W|ST5_ENST00000526099.1_Missense_Mutation_p.G69W|ST5_ENST00000530438.1_Missense_Mutation_p.G136W|ST5_ENST00000526757.1_Missense_Mutation_p.G136W|ST5_ENST00000357665.1_Missense_Mutation_p.G556W NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 556 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) GACCAGTTCCCACTGCGCAGG 0.622 5 107 --- --- --- --- PDE3B 5140 broad.mit.edu 37 11 14808096 14808096 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:14808096G>T ENST00000282096.4 + 3 1496 c.1143G>T c.(1141-1143)cgG>cgT p.R381R PDE3B_ENST00000455098.2_Intron NM_000922.3 NP_000913.2 Q13370 PDE3B_HUMAN phosphodiesterase 3B, cGMP-inhibited 381 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CCTCTCTACGGAGTATTAGTA 0.438 7 225 --- --- --- --- SLC1A2 6506 broad.mit.edu 37 11 35333904 35333904 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:35333904C>A ENST00000278379.3 - 4 684 c.402G>T c.(400-402)ctG>ctT p.L134L SLC1A2_ENST00000395750.1_Silent_p.L125L|SLC1A2_ENST00000606205.1_Silent_p.L134L|SLC1A2_ENST00000395753.1_Silent_p.L125L NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 134 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GAATGACCCCCAGTACTGCAG 0.547 7 163 --- --- --- --- OR5B21 219968 broad.mit.edu 37 11 58275576 58275576 + Translation_Start_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:58275576C>A ENST00000360374.2 - 1 2 c.3G>T c.(1-3)atG>atT p.M1I NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) TGCTATTCTCCATTGTGGCCA 0.413 4 39 --- --- --- --- CD6 923 broad.mit.edu 37 11 60785254 60785254 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:60785254C>A ENST00000313421.7 + 11 1792 c.1606C>A c.(1606-1608)Cac>Aac p.H536N CD6_ENST00000344028.5_Missense_Mutation_p.H504N|CD6_ENST00000352009.5_Missense_Mutation_p.H504N|CD6_ENST00000452451.2_Missense_Mutation_p.H495N|CD6_ENST00000346437.4_Missense_Mutation_p.H463N NM_006725.4 NP_006716.3 P30203 CD6_HUMAN CD6 molecule 536 cell adhesion cell surface|integral to plasma membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1) 18 GCATGCCTCCCACATCCCAAC 0.542 6 116 --- --- --- --- SLC22A25 387601 broad.mit.edu 37 11 62996946 62996946 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:62996946G>T ENST00000306494.6 - 1 178 c.179C>A c.(178-180)cCt>cAt p.P60H SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 60 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTCATTGTCAGGGATAGTGTC 0.488 6 101 --- --- --- --- KAT5 10524 broad.mit.edu 37 11 65484372 65484372 + Missense_Mutation SNP A A G TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:65484372A>G ENST00000341318.4 + 10 1417 c.1183A>G c.(1183-1185)Acg>Gcg p.T395A KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A NM_182710.2 NP_874369.1 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 362 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9) 21 GAAAGAATCAACGGAAGACTA 0.592 22 104 --- --- --- --- SF3B2 10992 broad.mit.edu 37 11 65820563 65820563 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:65820563C>A ENST00000528302.1 + 3 300 c.246C>A c.(244-246)ccC>ccA p.P82P SF3B2_ENST00000322535.6_Silent_p.P82P Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 82 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding p.P82P(1) breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CTCCACCTCCCATGTCGGCAC 0.488 6 155 --- --- --- --- CCDC87 55231 broad.mit.edu 37 11 66358464 66358464 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:66358464G>T ENST00000333861.3 - 1 2090 c.2023C>A c.(2023-2025)Cac>Aac p.H675N NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 675 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 AGAATTTTGTGGGGTTCTCCC 0.512 5 84 --- --- --- --- FOLR1 2348 broad.mit.edu 37 11 71903276 71903276 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:71903276G>T ENST00000393679.1 + 2 495 c.59G>T c.(58-60)gGg>gTg p.G20V FOLR1_ENST00000312293.4_Missense_Mutation_p.G20V|FOLR1_ENST00000393681.2_Missense_Mutation_p.G20V|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.G20V P15328 FOLR1_HUMAN folate receptor 1 (adult) 20 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GCTGTAGTAGGGGAGGCTCAG 0.557 6 104 --- --- --- --- TRPC6 7225 broad.mit.edu 37 11 101362373 101362373 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:101362373C>A ENST00000344327.3 - 3 1466 c.1042G>T c.(1042-1044)Ggg>Tgg p.G348W TRPC6_ENST00000348423.4_Intron|TRPC6_ENST00000532133.1_Missense_Mutation_p.G348W|TRPC6_ENST00000360497.4_Missense_Mutation_p.G348W NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 348 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.G348W(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCAACATCCCCATTCAGAATG 0.428 5 104 --- --- --- --- MMP27 64066 broad.mit.edu 37 11 102563708 102563708 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:102563708C>A ENST00000260229.4 - 9 1349 c.1258G>T c.(1258-1260)Gga>Tga p.G420* NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 420 Hemopexin-like 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) ATACTGATTCCAGGAAAGTGT 0.428 6 206 --- --- --- --- GUCY1A2 2977 broad.mit.edu 37 11 106558382 106558382 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:106558382C>A ENST00000526355.2 - 8 2560 c.2092G>T c.(2092-2094)Gag>Tag p.E698* GUCY1A2_ENST00000347596.2_Nonsense_Mutation_p.E719*|GUCY1A2_ENST00000282249.2_Nonsense_Mutation_p.E729* NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTCCTTACCTCCAGGAAATAG 0.448 7 191 --- --- --- --- DSCAML1 57453 broad.mit.edu 37 11 117301514 117301514 + Silent SNP G G T rs141667886 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:117301514G>T ENST00000321322.6 - 32 5791 c.5790C>A c.(5788-5790)acC>acA p.T1930T DSCAML1_ENST00000527706.1_Silent_p.T1660T NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1870 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GTGGTGAGGCGGTAAAGCGGC 0.612 5 215 --- --- --- --- BSX 390259 broad.mit.edu 37 11 122850125 122850125 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:122850125C>A ENST00000343035.2 - 2 351 c.303G>T c.(301-303)gcG>gcT p.A101A NM_001098169.1 NP_001091639.1 Q3C1V8 BSH_HUMAN brain-specific homeobox 101 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 10 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) CCGGCAGCTCCGCGTGCTGCG 0.657 4 62 --- --- --- --- PATE2 399967 broad.mit.edu 37 11 125648648 125648648 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr11:125648648C>A ENST00000358524.3 - 1 66 c.21G>T c.(19-21)ctG>ctT p.L7L PATE2_ENST00000436890.2_Silent_p.L7L NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 7 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 AGACTGTGCCCAGGAGAAAGA 0.517 5 74 --- --- --- --- CLSTN3 9746 broad.mit.edu 37 12 7293961 7293961 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:7293961C>A ENST00000537408.1 + 8 2021 c.1483C>A c.(1483-1485)Cga>Aga p.R495R CLSTN3_ENST00000266546.6_Silent_p.R483R Q9BQT9 CSTN3_HUMAN calsyntenin 3 483 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CCACCCACCCCGAAGGGAGCC 0.572 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 240 --- --- --- --- PRR4 11272 broad.mit.edu 37 12 10999752 10999752 + Missense_Mutation SNP G G T rs78191133 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:10999752G>T ENST00000540107.1 - 3 179 c.142C>A c.(142-144)Ccg>Acg p.P48T PRR4_ENST00000544994.1_Intron|PRR4_ENST00000228811.4_Silent_p.P105P|PRR4_ENST00000536668.1_5'UTR Q16378 PROL4_HUMAN proline rich 4 (lacrimal) 0 Pro-rich. visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 AAGGAAATCGGGGTAGAGAGA 0.542 8 214 --- --- --- --- FAM60A 58516 broad.mit.edu 37 12 31435764 31435764 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:31435764C>A ENST00000337682.4 - 6 916 c.548G>T c.(547-549)gGg>gTg p.G183V FAM60A_ENST00000539409.1_Missense_Mutation_p.G35V|FAM60A_ENST00000454658.2_Missense_Mutation_p.G183V|FAM60A_ENST00000542983.1_Missense_Mutation_p.G35V|FAM60A_ENST00000395766.1_Missense_Mutation_p.G35V NM_001135812.1 NP_001129284.1 Q9NP50 FA60A_HUMAN family with sequence similarity 60, member A 183 large_intestine(1)|lung(2) 3 all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162) GAGGACTTCCCCAAAACGGCC 0.428 5 59 --- --- --- --- DIP2B 57609 broad.mit.edu 37 12 51054041 51054041 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:51054041C>A ENST00000301180.5 + 4 400 c.366C>A c.(364-366)ccC>ccA p.P122P NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 122 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TGGCTTTGCCCATGCCAACCA 0.448 5 68 --- --- --- --- METTL7A 25840 broad.mit.edu 37 12 51318927 51318927 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:51318927T>C ENST00000548553.1 + 2 1087 c.106T>C c.(106-108)Ttc>Ctc p.F36L METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L Q9H8H3 MET7A_HUMAN methyltransferase like 7A 36 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CAAAAAATGGTTCCCCTACTT 0.488 17 68 --- --- --- --- GPR84 53831 broad.mit.edu 37 12 54756831 54756831 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:54756831C>A ENST00000551809.1 - 1 1440 c.805G>T c.(805-807)Ggg>Tgg p.G269W RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.G269W|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 269 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 GATGAGTCCCCTTCCAGGGTC 0.547 7 208 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59274658 59274658 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:59274658C>A ENST00000320743.3 - 13 1792 c.1506G>T c.(1504-1506)acG>acT p.T502T LRIG3_ENST00000379141.4_Silent_p.T442T NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 502 Ig-like C2-type 1. integral to membrane p.T502T(1) LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CTGGCTGAACCGTGATCTGGG 0.423 T ROS1 NSCLC 6 185 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70091546 70091546 + Missense_Mutation SNP A A T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:70091546A>T ENST00000330891.5 - 2 259 c.33T>A c.(31-33)aaT>aaA p.N11K BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 11 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) AAAAAGTTGCATTTGCTACTT 0.353 28 110 --- --- --- --- KCNC2 3747 broad.mit.edu 37 12 75601721 75601721 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:75601721C>A ENST00000549446.1 - 2 723 c.43G>T c.(43-45)Ggg>Tgg p.G15W KCNC2_ENST00000548513.1_Missense_Mutation_p.G15W|KCNC2_ENST00000350228.2_Missense_Mutation_p.G15W|KCNC2_ENST00000298972.1_Missense_Mutation_p.G15W|KCNC2_ENST00000540018.1_Missense_Mutation_p.G15W|KCNC2_ENST00000341669.3_Missense_Mutation_p.G15W|KCNC2_ENST00000550433.1_Missense_Mutation_p.G15W|KCNC2_ENST00000393288.2_Missense_Mutation_p.G15W NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 15 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CGGGTGCCCCCGACATTGAGG 0.592 5 76 --- --- --- --- DAO 1610 broad.mit.edu 37 12 109281269 109281269 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:109281269C>A ENST00000228476.3 + 3 442 c.238C>A c.(238-240)Cat>Aat p.H80N DAO_ENST00000551281.1_Missense_Mutation_p.H80N NM_001917.4 NP_001908.3 P14920 OXDA_HUMAN D-amino-acid oxidase 80 glyoxylate metabolic process peroxisomal matrix binding|D-amino-acid oxidase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1) 26 GAGCCATGTCCATTCTCCCAA 0.522 10 444 --- --- --- --- OASL 8638 broad.mit.edu 37 12 121471534 121471534 + Missense_Mutation SNP C C A rs146484691 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr12:121471534C>A ENST00000257570.5 - 2 481 c.211G>T c.(211-213)Ggg>Tgg p.G71W OASL_ENST00000339275.5_Missense_Mutation_p.G71W NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 71 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTGCCATTCCCGAAGGAGCCC 0.592 4 111 --- --- --- --- ZMYM5 9205 broad.mit.edu 37 13 20426226 20426226 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr13:20426226C>A ENST00000337963.4 - 3 359 c.95G>T c.(94-96)gGg>gTg p.G32V ZMYM5_ENST00000382905.4_Missense_Mutation_p.G32V|ZMYM5_ENST00000382907.4_Missense_Mutation_p.G32V NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 32 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AAATGAATCCCCTATGTCCAT 0.413 8 237 --- --- --- --- DCLK1 9201 broad.mit.edu 37 13 36385036 36385036 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr13:36385036C>A ENST00000255448.4 - 12 1835 c.1624G>T c.(1624-1626)Ggc>Tgc p.G542C DCLK1_ENST00000379893.1_Missense_Mutation_p.G235C|DCLK1_ENST00000360631.3_Missense_Mutation_p.G542C NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 542 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) TACAGGGGGCCGTCTACAATG 0.468 6 199 --- --- --- --- RB1 5925 broad.mit.edu 37 13 48881478 48881478 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr13:48881478C>A ENST00000267163.4 + 2 338 c.200C>A c.(199-201)cCa>cAa p.P67Q NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 67 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(3) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTAAAGATACCAGATCATGTC 0.318 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 5 66 --- --- --- --- NEK5 341676 broad.mit.edu 37 13 52701573 52701573 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr13:52701573C>A ENST00000355568.4 - 3 185 c.46G>T c.(46-48)Ggg>Tgg p.G16W NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 16 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TATGCTTTCCCGAAGGCACCT 0.378 6 214 --- --- --- --- OSGEP 55644 broad.mit.edu 37 14 20920516 20920516 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:20920516C>A ENST00000206542.4 - 2 628 c.207G>T c.(205-207)caG>caT p.Q69H OSGEP_ENST00000556252.1_5'UTR NM_017807.3 NP_060277.1 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 69 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) AGTCGATATCCTGGGAGGTTA 0.498 8 172 --- --- --- --- REC8 9985 broad.mit.edu 37 14 24648040 24648040 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:24648040C>A ENST00000311457.3 + 15 1717 c.1118C>A c.(1117-1119)cCa>cAa p.P373Q REC8_ENST00000559919.1_Missense_Mutation_p.P373Q O95072 REC8_HUMAN REC8 meiotic recombination protein 374 Glu-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) CAGCCACCCCCAAAAGCCCTC 0.582 8 358 --- --- --- --- RABGGTA 5875 broad.mit.edu 37 14 24734902 24734902 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:24734902C>A ENST00000399409.3 - 16 2106 c.1623G>T c.(1621-1623)caG>caT p.Q541H RABGGTA_ENST00000560777.1_Missense_Mutation_p.Q150H|RABGGTA_ENST00000216840.6_Missense_Mutation_p.Q541H NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 541 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GCGGGTTACCCTGCAGGTTGA 0.622 4 21 --- --- --- --- PPP2R3C 55012 broad.mit.edu 37 14 35564358 35564358 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:35564358C>A ENST00000261475.5 - 10 1224 c.871G>T c.(871-873)Ggc>Tgc p.G291C NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 291 EF-hand 1. centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) CTGAGCATGCCATTGTGATCT 0.373 5 58 --- --- --- --- SEC23A 10484 broad.mit.edu 37 14 39543647 39543647 + Nonsense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:39543647C>A ENST00000537403.1 - 5 1671 c.469G>T c.(469-471)Gag>Tag p.E157* SEC23A_ENST00000307712.6_Nonsense_Mutation_p.E359*|SEC23A_ENST00000536508.1_Nonsense_Mutation_p.E233*|SEC23A_ENST00000545328.2_Nonsense_Mutation_p.E330* Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 359 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) CATTTCATCTCCAGGAGACCT 0.343 7 185 --- --- --- --- ZNF410 57862 broad.mit.edu 37 14 74364847 74364847 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:74364847C>A ENST00000555044.1 + 5 656 c.462C>A c.(460-462)tcC>tcA p.S154S ZNF410_ENST00000556797.1_Silent_p.S101S|ZNF410_ENST00000540593.1_Silent_p.S81S|ZNF410_ENST00000334521.4_Silent_p.S101S|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000412490.3_3'UTR|ZNF410_ENST00000324593.6_Silent_p.S154S|RP5-1021I20.4_ENST00000556551.2_3'UTR|ZNF410_ENST00000442160.3_Silent_p.S171S NM_001242928.1|NM_021188.2 NP_001229857.1|NP_067011.1 Q86VK4 ZN410_HUMAN zinc finger protein 410 154 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(234;0.00369) ATTTCCTCTCCAGTGAGAGCA 0.468 6 141 --- --- --- --- ZC3H14 79882 broad.mit.edu 37 14 89039278 89039278 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:89039278C>A ENST00000251038.5 + 6 1013 c.788C>A c.(787-789)cCa>cAa p.P263Q ZC3H14_ENST00000556945.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000557607.1_Missense_Mutation_p.P108Q|ZC3H14_ENST00000555755.1_Missense_Mutation_p.P263Q|ZC3H14_ENST00000393514.5_Missense_Mutation_p.P263Q|ZC3H14_ENST00000359301.3_Missense_Mutation_p.P229Q|ZC3H14_ENST00000336693.4_Missense_Mutation_p.P229Q|ZC3H14_ENST00000302216.8_Missense_Mutation_p.P263Q NM_001160103.1|NM_001160104.1|NM_024824.4 NP_001153575.1|NP_001153576.1|NP_079100.2 Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 263 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TTGTGTGAACCAGAGGTGCTT 0.398 5 92 --- --- --- --- AHNAK2 113146 broad.mit.edu 37 14 105405768 105405768 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr14:105405768C>A ENST00000333244.5 - 7 16139 c.16020G>T c.(16018-16020)atG>atT p.M5340I AHNAK2_ENST00000557457.1_Missense_Mutation_p.M338I NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5340 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTTATCCTCCATGCTGGCAA 0.463 4 34 --- --- --- --- TJP1 7082 broad.mit.edu 37 15 30092850 30092850 + Splice_Site SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:30092850C>A ENST00000346128.6 - 2 557 c.83G>T c.(82-84)aGg>aTg p.R28M TJP1_ENST00000545208.2_Splice_Site_p.R28M|TJP1_ENST00000400011.2_Splice_Site_p.R32M|TJP1_ENST00000495972.2_Splice_Site_p.R28M|TJP1_ENST00000356107.6_Splice_Site_p.R28M NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 28 PDZ 1. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction 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) CAAACTTACCCTGTGAAGCGT 0.398 5 84 --- --- --- --- BUB1B 701 broad.mit.edu 37 15 40457272 40457272 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:40457272G>T ENST00000287598.6 + 2 249 c.54G>T c.(52-54)gaG>gaT p.E18D BUB1B_ENST00000412359.3_Missense_Mutation_p.E18D|BUB1B_ENST00000560120.1_Intron NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 18 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 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) TGTCCCTGGAGGGAGATGAAT 0.428 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 5 73 --- --- --- --- RPAP1 26015 broad.mit.edu 37 15 41829206 41829206 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:41829206C>A ENST00000304330.4 - 2 234 c.118G>T c.(118-120)Ggt>Tgt p.G40C RPAP1_ENST00000561603.1_Missense_Mutation_p.G40C NM_015540.2 NP_056355.2 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 40 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCATCACCACCGCCCCTATTT 0.587 5 219 --- --- --- --- DMXL2 23312 broad.mit.edu 37 15 51837907 51837907 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:51837907C>A ENST00000251076.5 - 8 1090 c.803G>T c.(802-804)tGg>tTg p.W268L DMXL2_ENST00000449909.3_Missense_Mutation_p.W268L|DMXL2_ENST00000543779.2_Missense_Mutation_p.W268L NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 268 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AGTTTCTGCCCAGAGCCGGCA 0.418 7 198 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 64048723 64048723 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:64048723C>A ENST00000443617.2 - 5 1533 c.1446G>T c.(1444-1446)tgG>tgT p.W482C NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 482 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CACCATCTCCCCAACTGAAGA 0.418 7 93 --- --- --- --- SLC28A1 9154 broad.mit.edu 37 15 85476419 85476419 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:85476419C>A ENST00000394573.1 + 13 1329 c.1127C>A c.(1126-1128)cCt>cAt p.P376H SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.P376H|SLC28A1_ENST00000537216.1_Missense_Mutation_p.P376H|SLC28A1_ENST00000537624.1_Missense_Mutation_p.P376H NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 376 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) ATGGCTGCCCCTTGTGCCTTG 0.562 8 187 --- --- --- --- LRRK1 79705 broad.mit.edu 37 15 101606927 101606927 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr15:101606927C>A ENST00000284395.5 + 34 6242 c.5842C>A c.(5842-5844)Cga>Aga p.R1948R LRRK1_ENST00000388948.3_Silent_p.R1951R|RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1951 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity 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) CTTAAAAGCCCGAGAGCTGAC 0.592 6 178 --- --- --- --- CRAMP1L 57585 broad.mit.edu 37 16 1718167 1718167 + Nonsense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:1718167G>T ENST00000397412.3 + 18 3406 c.3307G>T c.(3307-3309)Gag>Tag p.E1103* CRAMP1L_ENST00000436138.3_Nonsense_Mutation_p.E1100*|CRAMP1L_ENST00000293925.5_Nonsense_Mutation_p.E1103*|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Nonsense_Mutation_p.E481* Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1103 Ser-rich. nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CTCCATCATTGAGATCGCCAT 0.597 7 100 --- --- --- --- UBN1 29855 broad.mit.edu 37 16 4927413 4927413 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:4927413C>A ENST00000396658.4 + 16 3996 c.3293C>A c.(3292-3294)cCg>cAg p.P1098Q UBN1_ENST00000590769.1_Intron|UBN1_ENST00000262376.6_Missense_Mutation_p.P1098Q|UBN1_ENST00000545171.1_Intron NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 1098 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 CACTCCAGCCCGCCCCATGCA 0.592 8 322 --- --- --- --- ABCC11 85320 broad.mit.edu 37 16 48226509 48226509 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:48226509C>A ENST00000394747.1 - 19 2977 c.2628G>T c.(2626-2628)gtG>gtT p.V876V ABCC11_ENST00000353782.5_Silent_p.V876V|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Silent_p.V876V|ABCC11_ENST00000356608.2_Silent_p.V876V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 876 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances 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) AGCAGACCCCCACACAGATGA 0.572 5 76 --- --- --- --- MMP2 4313 broad.mit.edu 37 16 55532277 55532277 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:55532277C>A ENST00000219070.4 + 11 2195 c.1686C>A c.(1684-1686)ccC>ccA p.P562P MMP2_ENST00000543485.1_Silent_p.P486P|MMP2_ENST00000437642.2_Silent_p.P512P|MMP2_ENST00000570308.1_Silent_p.P486P NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 562 Hemopexin-like 2.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TGGGACTGCCCCCTGATGTCC 0.557 6 101 --- --- --- --- CES1 1066 broad.mit.edu 37 16 55844565 55844565 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:55844565C>A ENST00000422046.2 - 11 1457 c.1176G>T c.(1174-1176)aaG>aaT p.K392N CES1_ENST00000361503.4_Missense_Mutation_p.K393N|CES1_ENST00000360526.3_Missense_Mutation_p.K394N P23141 EST1_HUMAN carboxylesterase 1 393 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GAATCAGTTCCTTAGCAATGC 0.483 8 196 --- --- --- --- CDH5 1003 broad.mit.edu 37 16 66436961 66436961 + Silent SNP C C A rs151016157 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:66436961C>A ENST00000341529.3 + 12 2392 c.2244C>A c.(2242-2244)acC>acA p.T748T CDH5_ENST00000539168.1_Silent_p.T187T NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 748 Ser-rich. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCCTGGGCACCGACTCATCCG 0.642 4 31 --- --- --- --- KCTD19 146212 broad.mit.edu 37 16 67327680 67327680 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:67327680G>T ENST00000304372.5 - 12 2040 c.1985C>A c.(1984-1986)cCc>cAc p.P662H NM_001100915.1 NP_001094385.1 Q17RG1 KCD19_HUMAN potassium channel tetramerization domain containing 19 662 voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3) 23 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) CTCCTCCAAGGGGCTGCTCCG 0.592 7 144 --- --- --- --- RLTPR 146206 broad.mit.edu 37 16 67680686 67680686 + Splice_Site SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:67680686G>T ENST00000334583.6 + 7 864 c.536G>T c.(535-537)tGg>tTg p.W179L RLTPR_ENST00000545661.1_Splice_Site_p.W179L NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 179 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GAGATTCAGTGGGTGAGGGTA 0.587 6 138 --- --- --- --- AARS 16 broad.mit.edu 37 16 70287895 70287895 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:70287895C>A ENST00000261772.8 - 18 2590 c.2447G>T c.(2446-2448)cGg>cTg p.R816L NM_001605.2 NP_001596.2 P49588 SYAC_HUMAN alanyl-tRNA synthetase 816 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GAGAGTCTCCCGCAATTCATC 0.557 OREG0023912 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 157 --- --- --- --- ATP2C2 9914 broad.mit.edu 37 16 84473064 84473064 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:84473064G>T ENST00000416219.2 + 13 1232 c.1143G>T c.(1141-1143)acG>acT p.T381T ATP2C2_ENST00000262429.4_Silent_p.T381T|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 381 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 CTGACAAGACGGGGACTCTGA 0.502 6 182 --- --- --- --- TCF25 22980 broad.mit.edu 37 16 89965053 89965053 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr16:89965053C>A ENST00000263346.8 + 10 1167 c.1111C>A c.(1111-1113)Ctg>Atg p.L371M TCF25_ENST00000263347.7_Missense_Mutation_p.L136M NM_014972.2 NP_055787.1 Q9BQ70 TCF25_HUMAN transcription factor 25 (basic helix-loop-helix) 371 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2) 18 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) CAAGCTCATCCTGAGGTGAGT 0.617 5 69 --- --- --- --- MNT 4335 broad.mit.edu 37 17 2290904 2290904 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:2290904C>A ENST00000174618.4 - 6 1445 c.1040G>T c.(1039-1041)cGg>cTg p.R347L MNT_ENST00000575374.1_5'UTR NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 347 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CAGGCCCGCCCGGTCCTCCTC 0.672 7 289 --- --- --- --- ZNF232 7775 broad.mit.edu 37 17 5009563 5009563 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:5009563G>T ENST00000250076.3 - 5 1545 c.891C>A c.(889-891)ccC>ccA p.P297P ZNF232_ENST00000575898.1_Silent_p.P288P|ZNF232_ENST00000416429.2_3'UTR NM_014519.2 NP_055334.2 Q9UNY5 ZN232_HUMAN zinc finger protein 232 270 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2) 11 TCTTCCCTGTGGGAATTTCCT 0.458 5 91 --- --- --- --- KIAA0753 9851 broad.mit.edu 37 17 6513403 6513403 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:6513403G>T ENST00000361413.3 - 9 1981 c.1623C>A c.(1621-1623)tcC>tcA p.S541S KIAA0753_ENST00000542606.1_Silent_p.S242S|KIAA0753_ENST00000589033.1_5'UTR|KIAA0753_ENST00000572370.1_Silent_p.S242S NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 541 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) TTTTTAATCTGGATGAAACTG 0.473 5 104 --- --- --- --- GPS2 2874 broad.mit.edu 37 17 7217275 7217275 + Missense_Mutation SNP G G C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:7217275G>C ENST00000380728.2 - 6 730 c.430C>G c.(430-432)Ctc>Gtc p.L144V RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V Q13227 GPS2_HUMAN G protein pathway suppressor 2 144 cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter transcriptional repressor complex GTPase inhibitor activity|protein binding|transcription corepressor activity breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4) 24 Prostate(122;0.157) GCTGCCATGAGGGTGCCTGGG 0.547 35 90 --- --- --- --- POLR2A 5430 broad.mit.edu 37 17 7399794 7399794 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:7399794C>A ENST00000322644.6 + 4 798 c.399C>A c.(397-399)tcC>tcA p.S133S POLR2A_ENST00000572844.1_Silent_p.S133S NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 133 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TGGCTAAGTCCAAGGGACAGC 0.567 8 137 --- --- --- --- DNAH2 146754 broad.mit.edu 37 17 7700502 7700502 + Missense_Mutation SNP G G T rs147908045 byFrequency TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:7700502G>T ENST00000572933.1 + 51 9332 c.7872G>T c.(7870-7872)caG>caT p.Q2624H DNAH2_ENST00000389173.2_Missense_Mutation_p.Q2624H Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2624 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGGTGTTCCAGGGCATGCTTA 0.478 7 149 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8379196 8379196 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:8379196G>T ENST00000360416.3 - 43 6088 c.5950C>A c.(5950-5952)Ctg>Atg p.L1984M NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.L1969M|MYH10_ENST00000396239.1_Missense_Mutation_p.L1974M|MYH10_ENST00000269243.4_Missense_Mutation_p.L1953M NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1953 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GAGAGCTCCAGGGAAGCTCCT 0.582 7 156 --- --- --- --- GLP2R 9340 broad.mit.edu 37 17 9739702 9739702 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:9739702G>T ENST00000262441.5 + 3 805 c.292G>T c.(292-294)Ggg>Tgg p.G98W GLP2R_ENST00000574745.1_5'UTR NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 98 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.G98W(1) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) ATTTTGTAACGGGACATTTGA 0.483 6 199 --- --- --- --- SMCR8 140775 broad.mit.edu 37 17 18220835 18220835 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:18220835C>A ENST00000406438.3 + 1 2212 c.1732C>A c.(1732-1734)Cca>Aca p.P578T NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 578 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 AGAAAACACCCCATCACAAAT 0.537 7 137 --- --- --- --- PROCA1 147011 broad.mit.edu 37 17 27031418 27031418 + Missense_Mutation SNP C C A rs143668972 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:27031418C>A ENST00000301039.2 - 3 456 c.263G>T c.(262-264)cGg>cTg p.R88L PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.R90L|PROCA1_ENST00000581289.1_Intron NM_152465.1 NP_689678.1 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 116 lipid catabolic process calcium ion binding|phospholipase A2 activity breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) GCCCGCGCCCCGGGAGCTGCT 0.627 6 202 --- --- --- --- FNDC8 54752 broad.mit.edu 37 17 33454224 33454224 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:33454224C>A ENST00000158009.5 + 2 488 c.373C>A c.(373-375)Cca>Aca p.P125T NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 125 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) CAGCTTCTCCCCAATGGCCAA 0.572 7 210 --- --- --- --- GPR179 440435 broad.mit.edu 37 17 36485797 36485797 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:36485797G>T ENST00000342292.4 - 11 3675 c.3655C>A c.(3655-3657)Cct>Act p.P1219T NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1219 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CACCCGACAGGGGTTTCTTTT 0.567 7 224 --- --- --- --- MED1 5469 broad.mit.edu 37 17 37565755 37565755 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:37565755C>A ENST00000300651.6 - 17 2942 c.2719G>T c.(2719-2721)Ggg>Tgg p.G907W MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 907 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ATTGGCACCCCCAAAGTATTT 0.428 HNSCC(31;0.082) 8 230 --- --- --- --- CDK12 51755 broad.mit.edu 37 17 37686906 37686906 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:37686906C>A ENST00000447079.4 + 14 3843 c.3810C>A c.(3808-3810)ccC>ccA p.P1270P CDK12_ENST00000430627.2_Silent_p.P1261P NM_015083.1|NM_016507.2 NP_055898.1|NP_057591.2 Q9NYV4 CDK12_HUMAN cyclin-dependent kinase 12 1270 Poly-Pro. mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3) 70 CTGAGCCCCCCGGACCTCCAC 0.577 """Mis, N, F""" serous ovarian TCGA Ovarian(9;0.13) 7 308 --- --- --- --- RAPGEFL1 51195 broad.mit.edu 37 17 38345151 38345151 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:38345151G>T ENST00000436615.3 + 5 739 c.249G>T c.(247-249)caG>caT p.Q83H RAPGEFL1_ENST00000456989.2_Missense_Mutation_p.Q138H|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.Q132H|RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.Q83H NM_016339.3 NP_057423.1 Q9UHV5 RPGFL_HUMAN Rap guanine nucleotide exchange factor (GEF)-like 1 289 Gly-rich. G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction intracellular|membrane fraction guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CCAGCAAGCAGGTGAAGCCAC 0.612 5 83 --- --- --- --- HSPB9 94086 broad.mit.edu 37 17 40275108 40275108 + Silent SNP C C A rs150293597 byFrequency TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:40275108C>A ENST00000355067.3 + 1 353 c.240C>A c.(238-240)acC>acA p.T80T CTD-2132N18.3_ENST00000592574.1_Intron NM_033194.2 NP_149971.1 Q9BQS6 HSPB9_HUMAN heat shock protein, alpha-crystallin-related, B9 80 response to stress cytoplasm|nucleus protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 4 all_cancers(22;0.00064)|Breast(137;0.00104)|all_epithelial(22;0.00866) BRCA - Breast invasive adenocarcinoma(366;0.124) TGATGGTGACCGGACAGCAGC 0.592 6 128 --- --- --- --- AOC2 314 broad.mit.edu 37 17 40997529 40997529 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:40997529C>A ENST00000253799.3 + 1 913 c.886C>A c.(886-888)Ctg>Atg p.L296M AOC2_ENST00000452774.2_Missense_Mutation_p.L296M NM_009590.2 NP_033720.2 O75106 AOC2_HUMAN amine oxidase, copper containing 2 (retina-specific) 296 catecholamine metabolic process|visual perception cytoplasm|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2) 30 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) AGCTTCATCCCTGAGGTCTCG 0.557 6 105 --- --- --- --- TMEM92 162461 broad.mit.edu 37 17 48356601 48356601 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:48356601C>A ENST00000300433.3 + 6 522 c.412C>A c.(412-414)Cct>Act p.P138T TMEM92_ENST00000507382.1_Missense_Mutation_p.P138T NM_001168215.1 NP_001161687.1 Q6UXU6 TMM92_HUMAN transmembrane protein 92 138 Pro-rich. integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1) 7 AGAGCCACCCCCTCCCTACAG 0.592 8 237 --- --- --- --- VEZF1 7716 broad.mit.edu 37 17 56060629 56060629 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:56060629C>A ENST00000584396.1 - 2 220 c.132G>T c.(130-132)caG>caT p.Q44H VEZF1_ENST00000581208.1_Missense_Mutation_p.Q53H Q14119 VEZF1_HUMAN vascular endothelial zinc finger 1 53 cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1) 10 CTGGTGCACCCTGAGGTTTCT 0.473 8 183 --- --- --- --- ABCA9 10350 broad.mit.edu 37 17 66972095 66972095 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:66972095G>T ENST00000340001.4 - 39 5047 c.4836C>A c.(4834-4836)ccC>ccA p.P1612P ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.P1574P NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1612 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) ACTTCACCGAGGGATCAAAGT 0.413 5 41 --- --- --- --- ACOX1 51 broad.mit.edu 37 17 73975129 73975129 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr17:73975129C>A ENST00000293217.5 - 1 315 c.26G>T c.(25-27)cGg>cTg p.R9L ACOX1_ENST00000537812.1_5'UTR|ACOX1_ENST00000301608.4_Missense_Mutation_p.R9L|ACOX1_ENST00000591857.1_5'UTR NM_004035.6 NP_004026.2 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 9 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding p.R9L(2) large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 GGCGGAATCCCGCTCCCTGCG 0.662 4 85 --- --- --- --- GATA6 2627 broad.mit.edu 37 18 19780663 19780663 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr18:19780663C>A ENST00000269216.3 + 7 1942 c.1665C>A c.(1663-1665)ccC>ccA p.P555P GATA6_ENST00000581694.1_Silent_p.P555P|RP11-627G18.1_ENST00000583442.1_RNA NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 555 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) GCACCAATCCCGAGAACAGCG 0.607 5 132 --- --- --- --- DSG2 1829 broad.mit.edu 37 18 29126129 29126129 + Missense_Mutation SNP C C A rs146402368 by1000genomes TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr18:29126129C>A ENST00000261590.8 + 15 2989 c.2780C>A c.(2779-2781)cCa>cAa p.P927Q RP11-75N4.2_ENST00000583706.1_RNA NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 927 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) CTTCCTGACCCAATGGCTTCT 0.483 6 159 --- --- --- --- C18orf25 147339 broad.mit.edu 37 18 43820011 43820011 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr18:43820011C>A ENST00000282059.6 + 3 1130 c.756C>A c.(754-756)acC>acA p.T252T C18orf25_ENST00000321319.6_Intron NM_145055.3 NP_659492 Q96B23 CR025_HUMAN chromosome 18 open reading frame 25 252 central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 11 TGTCTGACACCAACTCTGACC 0.443 6 138 --- --- --- --- ZCCHC2 54877 broad.mit.edu 37 18 60241887 60241887 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr18:60241887C>A ENST00000269499.5 + 13 2991 c.2573C>A c.(2572-2574)cCa>cAa p.P858Q ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P537Q NM_017742.4 NP_060212.4 Q9C0B9 ZCHC2_HUMAN zinc finger, CCHC domain containing 2 858 cell communication cytoplasm nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 GGTAGTTTCCCAGGCTCTCCT 0.502 5 90 --- --- --- --- DUS3L 56931 broad.mit.edu 37 19 5790299 5790299 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:5790299C>A ENST00000309061.7 - 2 242 c.146G>T c.(145-147)gGg>gTg p.G49V DUS3L_ENST00000590681.1_5'UTR|DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 49 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 CTTCTCCTGCCCTTTGGCTTC 0.547 11 64 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9082881 9082881 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:9082881G>T ENST00000397910.4 - 1 9137 c.8934C>A c.(8932-8934)ccC>ccA p.P2978P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2979 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCTGAAGTGGGGACTCTGG 0.502 6 157 --- --- --- --- OR7D4 125958 broad.mit.edu 37 19 9324896 9324896 + Silent SNP C C A rs150001713 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:9324896C>A ENST00000308682.2 - 1 646 c.618G>T c.(616-618)ctG>ctT p.L206L NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GAAACACACCCAGCAGTGCCG 0.507 6 117 --- --- --- --- ICAM5 7087 broad.mit.edu 37 19 10404518 10404518 + Missense_Mutation SNP A A C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:10404518A>C ENST00000221980.4 + 7 1673 c.1610A>C c.(1609-1611)gAg>gCg p.E537A NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 537 Ig-like C2-type 6. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) GCCGTCATCGAGGGGCTGTTG 0.662 21 93 --- --- --- --- ZNF440 126070 broad.mit.edu 37 19 11942943 11942943 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:11942943G>T ENST00000304060.5 + 4 1116 c.952G>T c.(952-954)Ggg>Tgg p.G318W NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 TAAGCAGTGTGGGAAAGCATT 0.383 5 75 --- --- --- --- ZNF442 79973 broad.mit.edu 37 19 12461101 12461101 + Missense_Mutation SNP T T C TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:12461101T>C ENST00000242804.4 - 6 1880 c.1298A>G c.(1297-1299)tAt>tGt p.Y433C ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TTTACATTCATAGGGTTTCTC 0.413 4 87 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13414690 13414690 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:13414690C>A ENST00000360228.5 - 16 1994 c.1995G>T c.(1993-1995)acG>acT p.T665T CACNA1A_ENST00000573710.2_Silent_p.T666T 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 666 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.T666T(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) AGTCTTCGCCCGTCAGGATCT 0.597 6 154 --- --- --- --- IL27RA 9466 broad.mit.edu 37 19 14157009 14157009 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:14157009G>T ENST00000263379.2 + 7 937 c.812G>T c.(811-813)tGg>tTg p.W271L NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 271 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GTCTGGTTCTGGGTTGGAGGT 0.552 7 273 --- --- --- --- TECR 9524 broad.mit.edu 37 19 14674848 14674848 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:14674848C>A ENST00000436007.2 + 7 491 c.367C>A c.(367-369)Cga>Aga p.R123R TECR_ENST00000215567.5_Silent_p.R108R|TECR_ENST00000596073.1_5'UTR|TECR_ENST00000600083.1_5'UTR Q9NZ01 TECR_HUMAN trans-2,3-enoyl-CoA reductase 108 fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity endometrium(1)|large_intestine(1)|ovary(1) 3 CTTCTACTTCCGAGTGCCCTT 0.557 6 286 --- --- --- --- OR10H4 126541 broad.mit.edu 37 19 16060285 16060285 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:16060285G>T ENST00000322107.1 + 1 468 c.468G>T c.(466-468)atG>atT p.M156I NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M156I(1) breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 GCTCAGTCATGGGGATGATGG 0.522 6 131 --- --- --- --- ANO8 57719 broad.mit.edu 37 19 17441791 17441791 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:17441791C>A ENST00000159087.4 - 8 997 c.839G>T c.(838-840)cGg>cTg p.R280L NM_020959.2 NP_066010.1 Q9HCE9 ANO8_HUMAN anoctamin 8 280 chloride channel complex chloride channel activity autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3) 27 GGAAACATCCCGGCTTGTCTG 0.572 6 173 --- --- --- --- UPF1 5976 broad.mit.edu 37 19 18976574 18976574 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:18976574C>A ENST00000262803.5 + 22 3496 c.3224C>A c.(3223-3225)cCg>cAg p.P1075Q UPF1_ENST00000599848.1_Missense_Mutation_p.P1086Q NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 1086 Gln/Ser-rich. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 CTCTCCCAGCCGGAGCTGTCC 0.647 4 86 --- --- --- --- CILP2 148113 broad.mit.edu 37 19 19654493 19654493 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:19654493C>A ENST00000586018.1 + 8 1259 c.1157C>A c.(1156-1158)cCa>cAa p.P386Q CILP2_ENST00000291495.5_Missense_Mutation_p.P380Q Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 380 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TCCCCAGCCCCAGGCCAGCCA 0.632 9 347 --- --- --- --- ATP4A 495 broad.mit.edu 37 19 36046700 36046700 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:36046700C>A ENST00000262623.3 - 13 1912 c.1884G>T c.(1882-1884)acG>acT p.T628T NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 628 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) GGTGGTCACCCGTTACCATGA 0.602 5 216 --- --- --- --- ARHGAP33 115703 broad.mit.edu 37 19 36278629 36278629 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:36278629C>A ENST00000007510.4 + 21 3306 c.3162C>A c.(3160-3162)ccC>ccA p.P1054P ARHGAP33_ENST00000378944.5_Silent_p.P890P|ARHGAP33_ENST00000314737.5_Silent_p.P893P O14559 RHG33_HUMAN Rho GTPase activating protein 33 1054 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 37 GCTTGTACCCCCTGGGCCCCC 0.667 5 57 --- --- --- --- SPRED3 399473 broad.mit.edu 37 19 38882639 38882639 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:38882639C>A ENST00000587013.1 + 2 441 c.363C>A c.(361-363)ccC>ccA p.P121P SPRED3_ENST00000586301.1_Silent_p.P77P|SPRED3_ENST00000338502.4_Silent_p.P77P|SPRED3_ENST00000587564.2_3'UTR Q2MJR0 SPRE3_HUMAN sprouty-related, EVH1 domain containing 3 77 Ser-rich. multicellular organismal development central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1) 9 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGTGAATCCCATCTTTCACC 0.547 7 139 --- --- --- --- HNRNPUL1 11100 broad.mit.edu 37 19 41778018 41778018 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:41778018C>A ENST00000392006.3 + 3 623 c.450C>A c.(448-450)ccC>ccA p.P150P HNRNPUL1_ENST00000593587.1_Silent_p.P50P|HNRNPUL1_ENST00000263367.3_Silent_p.P61P|HNRNPUL1_ENST00000602130.1_Silent_p.P150P|HNRNPUL1_ENST00000378215.4_Silent_p.P107P|HNRNPUL1_ENST00000352456.3_Silent_p.P50P|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000595018.1_Silent_p.P50P NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 150 nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 AAGGAGCACCCACCAGCTTCC 0.507 7 132 --- --- --- --- CEACAM3 1084 broad.mit.edu 37 19 42314040 42314040 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:42314040C>A ENST00000357396.3 + 4 821 c.580C>A c.(580-582)Caa>Aaa p.Q194K CEACAM3_ENST00000221999.4_Intron|CEACAM3_ENST00000344550.4_Intron NM_001815.2 NP_001806.2 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion molecule 3 194 integral to membrane endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1) 19 GCAGCAGCCCCAAGCCCTTGC 0.597 8 253 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42858806 42858806 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:42858806C>A ENST00000334370.4 + 22 4512 c.3877C>A c.(3877-3879)Cgc>Agc p.R1293S MEGF8_ENST00000251268.6_Missense_Mutation_p.R1360S NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1360 CUB 2. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CCAGTCGGACCGCAGCCTCAT 0.602 8 288 --- --- --- --- CA11 770 broad.mit.edu 37 19 49143086 49143086 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:49143086G>T ENST00000084798.4 - 5 1205 c.526C>A c.(526-528)Cgc>Agc p.R176S SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 176 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) TTGGGGCCGCGGGAGGCAGCG 0.622 5 95 --- --- --- --- PPP1R15A 23645 broad.mit.edu 37 19 49379177 49379177 + Missense_Mutation SNP C C A rs35007147 byFrequency TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:49379177C>A ENST00000200453.5 + 3 2241 c.1972C>A c.(1972-1974)Cgc>Agc p.R658S NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 658 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CACACCTTCCCGCTCGTCTGC 0.572 5 99 --- --- --- --- NCR1 9437 broad.mit.edu 37 19 55423580 55423580 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:55423580C>A ENST00000594765.1 + 6 749 c.724C>A c.(724-726)Cag>Aag p.Q242K NCR1_ENST00000598576.1_Missense_Mutation_p.Q230K|NCR1_ENST00000357397.5_Missense_Mutation_p.Q136K|NCR1_ENST00000338835.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.Q242K|NCR1_ENST00000350790.5_Missense_Mutation_p.Q148K|NCR1_ENST00000291890.4_Missense_Mutation_p.Q243K O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 243 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GACGGGACTCCAGAAAGGTAA 0.517 5 101 --- --- --- --- ZNF835 90485 broad.mit.edu 37 19 57174975 57174975 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr19:57174975G>T ENST00000537055.2 - 2 1823 c.1592C>A c.(1591-1593)cCg>cAg p.P531Q NM_001005850.2 NP_001005850.2 zinc finger protein 835 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 TGGTCCACGCGGGTTTCTGCC 0.577 4 79 --- --- --- --- MCM8 84515 broad.mit.edu 37 20 5965430 5965430 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr20:5965430G>T ENST00000378896.3 + 15 2114 c.1737G>T c.(1735-1737)atG>atT p.M579I MCM8_ENST00000378883.1_Missense_Mutation_p.M532I|MCM8_ENST00000378886.2_Missense_Mutation_p.M619I|MCM8_ENST00000265187.4_Missense_Mutation_p.M563I NM_001281520.1|NM_032485.4|NM_182802.1 NP_001268449.1|NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 579 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 TTCATAGAATGGGGAGTGCAC 0.358 5 72 --- --- --- --- L3MBTL1 26013 broad.mit.edu 37 20 42162929 42162929 + Silent SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr20:42162929C>A ENST00000444063.1 + 12 1467 c.1335C>A c.(1333-1335)ccC>ccA p.P445P L3MBTL1_ENST00000427442.2_Silent_p.P513P|L3MBTL1_ENST00000373134.1_Silent_p.P445P|L3MBTL1_ENST00000373135.3_Silent_p.P445P|L3MBTL1_ENST00000418998.1_Silent_p.P513P Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 445 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 TGCAGCGACCCCCTCACAGCT 0.637 5 53 --- --- --- --- TAF4 6874 broad.mit.edu 37 20 60575644 60575644 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr20:60575644G>T ENST00000252996.4 - 10 2619 c.2620C>A c.(2620-2622)Ctc>Atc p.L874I NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) GGCGCTTGGAGGAGGAAGGTT 0.463 5 85 --- --- --- --- BACE2 25825 broad.mit.edu 37 21 42598245 42598245 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr21:42598245C>A ENST00000347667.5 + 2 828 c.365C>A c.(364-366)cCg>cAg p.P122Q BACE2_ENST00000328735.6_Missense_Mutation_p.P122Q|BACE2_ENST00000330333.6_Missense_Mutation_p.P122Q NM_138991.1 NP_620476.1 Q9Y5Z0 BACE2_HUMAN beta-site APP-cleaving enzyme 2 membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Prostate(19;1.57e-07)|all_epithelial(19;0.0251) GCAGGAACCCCGCACTCCTAC 0.463 5 93 --- --- --- --- IGLV3-10 28803 broad.mit.edu 37 22 23154528 23154528 + RNA SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr22:23154528C>A ENST00000390315.2 + 0 132 GTCAGTGTCCCCAGGACAAAC 0.547 6 111 --- --- --- --- LIF 3976 broad.mit.edu 37 22 30639684 30639684 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr22:30639684C>A ENST00000249075.3 - 3 720 c.565G>T c.(565-567)Ggg>Tgg p.G189W LIF_ENST00000403987.3_3'UTR NM_002309.4 NP_002300.1 P15018 LIF_HUMAN leukemia inhibitory factor 189 immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding breast(1)|lung(3)|skin(3) 7 Epithelial(10;0.171) TTATACTTCCCCAGGAGTTGA 0.567 6 108 --- --- --- --- NAGA 4668 broad.mit.edu 37 22 42459019 42459019 + Missense_Mutation SNP C C A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr22:42459019C>A ENST00000396398.3 - 7 1301 c.769G>T c.(769-771)Ggg>Tgg p.G257W NAGA_ENST00000403363.1_Missense_Mutation_p.G257W|NAGA_ENST00000402937.1_Missense_Mutation_p.G257W NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 257 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CCAAAGTTCCCAATGAGCAGC 0.577 4 29 --- --- --- --- RIBC2 26150 broad.mit.edu 37 22 45813805 45813805 + Missense_Mutation SNP C C A rs137932273 TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chr22:45813805C>A ENST00000342894.3 + 3 730 c.316C>A c.(316-318)Cgt>Agt p.R106S RIBC2_ENST00000538017.1_Missense_Mutation_p.R174S Q9H4K1 RIBC2_HUMAN RIB43A domain with coiled-coils 2 106 NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1) 10 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) GAAGAACGCCCGTGCTGAACA 0.418 3 23 --- --- --- --- STAG2 10735 broad.mit.edu 37 X 123200045 123200045 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:123200045G>T ENST00000371160.1 + 22 2407 c.2117G>T c.(2116-2118)tGg>tTg p.W706L STAG2_ENST00000371145.3_Missense_Mutation_p.W706L|STAG2_ENST00000371144.3_Missense_Mutation_p.W706L|STAG2_ENST00000371157.3_Missense_Mutation_p.W706L|STAG2_ENST00000218089.9_Missense_Mutation_p.W706L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.W637L NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 706 W -> R (in Ref. 5; CAA99732). cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTTTCAAAGTGGGATTTATTT 0.284 4 53 --- --- --- --- PDZD4 57595 broad.mit.edu 37 X 153073955 153073955 + Silent SNP G G A TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:153073955G>A ENST00000164640.4 - 2 347 c.156C>T c.(154-156)cgC>cgT p.R52R PDZD4_ENST00000393758.2_5'UTR|PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 52 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGGGGGCTGCGTCTCAGCA 0.642 5 7 --- --- --- --- MECP2 4204 broad.mit.edu 37 X 153296742 153296742 + Silent SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:153296742G>T ENST00000303391.6 - 4 786 c.537C>A c.(535-537)ccC>ccA p.P179P MECP2_ENST00000407218.1_Intron|MECP2_ENST00000453960.2_Silent_p.P191P NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 179 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGAGCTTTGGGAGATTTGG 0.612 5 77 --- --- --- --- F8 2157 broad.mit.edu 37 X 154158637 154158637 + Missense_Mutation SNP G G T TCGA-G9-6342-01A-11D-1961-08 TCGA-G9-6342-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8e0af26e-760e-4842-8e0f-c073f3b67fc8 0156e439-a6b4-401c-bd6b-021244bea9dc g.chrX:154158637G>T ENST00000360256.4 - 14 3628 c.3428C>A c.(3427-3429)cCc>cAc p.P1143H NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1143 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTTTGGACTGGGGCCTTGCCC 0.413 5 66 --- --- --- ---