Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut GDA 9615 broad.mit.edu 37 9 74817548 74817548 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:74817548G>A uc004air.3 + 2 483 c.274G>A c.(274-276)Gga>Aga p.G92R GDA_uc011lse.2_Missense_Mutation_p.G18R|GDA_uc004aiq.3_Missense_Mutation_p.G92R|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.G18R|GDA_uc004ais.3_Missense_Mutation_p.G50R|GDA_uc004ait.1_Missense_Mutation_p.G18R NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 92 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TTCCTTTGCTGGAAGTAGCAT 0.413000 56 47 0 0 0.014410 0 0 PIK3R4 30849 broad.mit.edu 37 3 130422672 130422672 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:130422672C>T uc003enj.3 - 12 3574 c.2993G>A c.(2992-2994)cGa>cAa p.R998Q NM_014602 NP_055417 Q99570 PI3R4_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA. 998 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GACTCTAATTCGATTCACAGC 0.413000 59 53 0 0 0.014410 0 0 FNDC5 252995 broad.mit.edu 37 1 33333430 33333430 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:33333430C>G uc001bwg.3 - 3 413 c.198G>C c.(196-198)atG>atC p.M66I FNDC5_uc021okv.1_Missense_Mutation_p.M66I|FNDC5_uc001bwf.2_Missense_Mutation_p.M66I NM_001171941 NP_001165412 Q8NAU1 FNDC5_HUMAN Homo sapiens fibronectin type III domain containing 5 (FNDC5), transcript variant 1, mRNA. 125 Fibronectin type-III. integral to membrane|peroxisomal membrane p.M66L(1) breast(1)|large_intestine(1)|lung(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCATCTCTTTCATGGTTACCT 0.562000 27 14 0 0 0.020292 0 0 COL11A2 1302 broad.mit.edu 37 6 33141174 33141174 + Missense_Mutation SNP G A A rs150065075 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:33141174G>A uc003ocx.1 - 36 2915 c.2687C>T c.(2686-2688)cCc>cTc p.P896L COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.P810L|COL11A2_uc003ocz.1_Missense_Mutation_p.P789L NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 896 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CTTCCCAGGGGGGCCCTGGAA 0.597000 46 33 0 0 0.017118 0 0 EIF3D 8664 broad.mit.edu 37 22 36922104 36922104 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:36922104G>A uc003apr.3 - 1 230 c.65C>T c.(64-66)cCc>cTc p.P22L EIF3D_uc011amt.2_Missense_Mutation_p.P22L|EIF3D_uc011ams.2_5'UTR NM_003753 NP_003744 O15371 EIF3D_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA. 22 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 15 AAACTGCTCGGGAACCGCACA 0.512000 52 37 0 0 0.019004 0 0 CTSL2 1515 broad.mit.edu 37 9 99797857 99797857 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:99797857G>A uc010msi.3 - 5 947 c.740C>T c.(739-741)tCc>tTc p.S247F CTSL2_uc004awt.3_Missense_Mutation_p.S247F|CTSL2_uc004awu.3_Missense_Mutation_p.S192F|CTSL2_uc010msj.2_Missense_Mutation_p.S192F NM_001201575 NP_001188504 O60911 CATL2_HUMAN Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA. 247 lysosome cysteine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(62;0.0559) CATAGCAACGGAGATGGGCCC 0.473000 24 20 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179437711 179437711 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179437711G>A uc021vsy.1 - 274 65669 c.65444C>T c.(65443-65445)tCg>tTg p.S21815L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S15510L|TTN_uc021vta.1_Missense_Mutation_p.S15443L|TTN_uc021vtb.1_Missense_Mutation_p.S15318L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 22742 Fibronectin type-III 58. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S15443*(1)|p.S15318*(1)|p.S21813*(1)|p.S15510*(1)|p.S21815*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATAGTATACGAAGTTGCCTT 0.483000 13 14 0 0 0.020292 0 0 FAM75A6 389730 broad.mit.edu 37 9 43630609 43630609 + Silent SNP G A A rs2261047 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:43630609G>A uc011lrb.2 - 0 122 c.93C>T c.(91-93)acC>acT p.T31T NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 31 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 CAAACACCAAGGTGAGGAAGA 0.473000 8 3 0 0 0.014758 0 0 GBP2 2634 broad.mit.edu 37 1 89586829 89586829 + Silent SNP C T T rs147250118 byFrequency TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:89586829C>T uc001dmz.1 - 2 586 c.315G>A c.(313-315)gaG>gaA p.E105E GBP2_uc001dmy.1_Non-coding_Transcript NM_004120 NP_004111 P32456 GBP2_HUMAN Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA. 105 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway plasma membrane GTP binding|GTPase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1) 20 Lung NSC(277;0.0908) all cancers(265;0.0151)|Epithelial(280;0.0284) TTTTTACCTTCTCTATATCTC 0.413000 34 24 0 0 0.014323 0 0 HPS3 84343 broad.mit.edu 37 3 148889998 148889998 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:148889998C>T uc003ewu.1 + 16 3144 c.3004C>T c.(3004-3006)Cca>Tca p.P1002S CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Missense_Mutation_p.P837S|HPS3_uc003ewv.1_Non-coding_Transcript NM_032383 NP_115759 Q969F9 HPS3_HUMAN Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA. 1002 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TCGAAAGAAACCATTGACTTA 0.338000 Hermansky-Pudlak syndrome 17 7 0 0 0.003080 0 0 C4B 721 broad.mit.edu 37 6 31997061 31997061 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:31997061G>A uc011dpd.2 + 27 3673 c.3622G>A c.(3622-3624)Gac>Aac p.D1208N C4B_uc011dpe.2_Missense_Mutation_p.D1208N NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1208 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GGCCCCTGCGGACCTGCGGGG 0.647000 36 30 0 0 0.009535 0 0 RIPK4 54101 broad.mit.edu 37 21 43162114 43162114 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr21:43162114G>A uc002yzn.1 - 7 1287 c.1239C>T c.(1237-1239)gcC>gcT p.A413A NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 413 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGGACACGATGGCATCCACAA 0.627000 104 97 0 0 0.014410 0 0 CDHR4 389118 broad.mit.edu 37 3 49836822 49836822 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:49836822G>A uc010hkz.3 - 1 107 c.98C>T c.(97-99)cCt>cTt p.P33L CDHR4_uc003cxp.2_Missense_Mutation_p.P33L|CDHR4_uc011bcw.2_Missense_Mutation_p.P33L NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN Homo sapiens cadherin-related family member 4 (CDHR4), mRNA. 33 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 GACTGTGCCAGGGCCCTGGCT 0.557000 9 11 0 0 0.010729 0 0 PEAR1 375033 broad.mit.edu 37 1 156873748 156873748 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:156873748C>T uc001fqj.1 + 1 146 c.30C>T c.(28-30)ctC>ctT p.L10L PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 10 integral to membrane p.L9F(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCCTCCTTCTCCTGGCTGTGG 0.647000 78 55 0 0 0.014410 0 0 SLC13A4 26266 broad.mit.edu 37 7 135369006 135369006 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:135369006C>T uc003vtb.3 - 14 2301 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K SLC13A4_uc003vta.3_Missense_Mutation_p.E537K|C7orf73_uc003vsz.4_Intron NM_012450 NP_036582 Q9UKG4 S13A4_HUMAN Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA. 537 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TGCAGCGTTTCAGACTAGAAG 0.483000 37 33 0 0 0.019004 0 0 ZNF544 27300 broad.mit.edu 37 19 58773811 58773811 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:58773811C>T uc010euo.3 + 6 2313 c.1839C>T c.(1837-1839)ttC>ttT p.F613F ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Silent_p.F585F|ZNF544_uc010yhy.2_Silent_p.F585F|ZNF544_uc002qrt.4_Silent_p.F471F|ZNF544_uc002qru.4_Silent_p.F471F|BC063675_uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN Homo sapiens zinc finger protein 544 (ZNF544), mRNA. 613 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GAAAAGCCTTCAATCGAAGCA 0.453000 54 45 0 0 0.014410 0 0 ROBO3 64221 broad.mit.edu 37 11 124745065 124745065 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:124745065C>T uc001qbc.3 + 13 2301 c.2132C>T c.(2131-2133)cCt>cTt p.P711L ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA. 711 Fibronectin type-III 2. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GTAGCAGGCCCTGAGGGAGGA 0.592000 3 18 0 0 0.006122 0 0 BMP15 9210 broad.mit.edu 37 X 50659304 50659304 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:50659304C>T uc011mnw.2 + 1 925 c.876C>T c.(874-876)tcC>tcT p.S292S NM_005448 NP_005439 O95972 BMP15_HUMAN Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA. 292 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity p.C291C(1) NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) ACCAGTGTTCCCTCCACCCTT 0.512000 5 47 0 0 0.014410 0 0 APBB2 323 broad.mit.edu 37 4 40947069 40947069 + Nonsense_Mutation SNP G T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:40947069G>T uc003gvn.3 - 6 1487 c.857C>A c.(856-858)tCa>tAa p.S286* APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Nonsense_Mutation_p.S285*|APBB2_uc003gvm.3_Nonsense_Mutation_p.S285*|APBB2_uc011byt.1_Nonsense_Mutation_p.S268* NM_004307 NP_004298 Q92870 APBB2_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA. 285 cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 AGTCTGAAATGAGTGATCACT 0.478000 43 36 6.02846e-25 1.04621e-24 0.015359 1 0 CFHR2 3080 broad.mit.edu 37 1 196928177 196928177 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:196928177G>A uc001gtq.1 + 4 857 c.780G>A c.(778-780)ggG>ggA p.G260G CFHR2_uc001gtr.1_Silent_p.G136G NM_005666 NP_005657 P36980 FHR2_HUMAN Homo sapiens complement factor H-related 2 (CFHR2), mRNA. 260 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 GTCAGAATGGGAAACTGGTAT 0.303000 11 35 0 0 0.021022 0 0 SDK2 54549 broad.mit.edu 37 17 71348681 71348681 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr17:71348681C>T uc010dfm.3 - 40 5689 c.5689G>A c.(5689-5691)Gac>Aac p.D1897N SDK2_uc002jjt.4_Missense_Mutation_p.D1037N|SDK2_uc002jjv.1_Non-coding_Transcript NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 1897 Fibronectin type-III 13. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 ACCCGGAAGTCATAGCTCACG 0.612000 12 33 0 0 0.015359 0 0 NPC1 4864 broad.mit.edu 37 18 21140301 21140301 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:21140301G>A uc002kum.4 - 5 1049 c.775C>T c.(775-777)Ccc>Tcc p.P259S NPC1_uc010xaz.2_Missense_Mutation_p.P43S|NPC1_uc010xba.1_Missense_Mutation_p.P104S NM_000271 NP_000262 O15118 NPC1_HUMAN Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA. 259 Poly-Pro. autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1) 38 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATCGTCCAGGGAGCAGGAGGA 0.537000 44 26 0 0 0.021523 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92977491 92977491 + Missense_Mutation SNP T G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:92977491T>G uc002bra.3 + 2 331 c.176T>G c.(175-177)aTa>aGa p.I59R ST8SIA2_uc002brb.3_Missense_Mutation_p.I38R NM_006011 NP_006002 Q92186 SIA8B_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA. 59 N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) GAAGTTGTAATAAACGGCTCC 0.448000 119 6 0 0 0.003080 0 0 LOC407835 407835 broad.mit.edu 37 7 128767045 128767045 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:128767045G>A uc003voo.3 + 0 721 c.474G>A c.(472-474)ctG>ctA p.L158L Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA. ACCAGGGGCTGAAAGAGGCCA 0.592000 10 7 0 0 0.003080 0 0 LOC650368 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:3427845C>T uc010qxs.1 + 8 c.838C>T LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. CTTCAAGTGGCAGGAGCAGAA 0.587000 55 7 0 0 0.001984 0 0 ACTN1 87 broad.mit.edu 37 14 69369277 69369277 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:69369277T>C uc001xkl.3 - 7 989 c.679A>G c.(679-681)Atc>Gtc p.I227V ACTN1_uc010ttb.2_Missense_Mutation_p.I162V|ACTN1_uc001xkm.3_Missense_Mutation_p.I227V|ACTN1_uc001xkn.3_Missense_Mutation_p.I227V|ACTN1_uc001xko.1_Missense_Mutation_p.I162V|ACTN1_uc010ttd.1_Missense_Mutation_p.I206V NM_001102 NP_001093 P12814 ACTN1_HUMAN Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA. 227 Actin-binding.|CH 2. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) GTTCCAACGATGTCTGTCAAG 0.547000 101 5 0 0 0.014758 0 0 SLC2A8 29988 broad.mit.edu 37 9 130167745 130167745 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:130167745G>A uc004bqu.3 + 8 1242 c.1197G>A c.(1195-1197)gaG>gaA p.E399E SLC2A8_uc010mxj.3_Intron NM_014580 NP_055395 Q9NY64 GTR8_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA. 399 cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity p.S398S(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1) 11 TCATGTCAGAGATCTTCCCTC 0.627000 31 19 0 0 0.010504 0 0 PSMD1 5707 broad.mit.edu 37 2 232035369 232035369 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:232035369C>T uc002vrn.2 + 23 2967 c.2805C>T c.(2803-2805)atC>atT p.I935I PSMD1_uc002vrm.2_Silent_p.I904I|PSMD1_uc010fxu.2_Silent_p.I799I NM_002807 NP_002798 Q99460 PSMD1_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA. 935 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4) 31 Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168) Bortezomib(DB00188) GCCCAAAAATCGAGGAGGAGG 0.473000 34 26 0 0 0.021523 0 0 C4orf40 401137 broad.mit.edu 37 4 71024155 71024155 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:71024155C>T uc003hfa.4 + 3 259 c.186C>T c.(184-186)taC>taT p.Y62Y C4orf40_uc003hfb.4_Silent_p.Y62Y NM_214711 NP_999876 Q6MZM9 CD040_HUMAN Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA. 62 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCCCCAGTTACCCTGGGAATA 0.458000 91 76 0 0 0.014410 0 0 MLF1IP 79682 broad.mit.edu 37 4 185621975 185621975 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:185621975G>A uc003iwq.3 - 11 1056 c.986_splice c.e11+1 p.R329_splice MLF1IP_uc003iwp.3_Intron|MLF1IP_uc003iwr.1_Intron NM_024629 NP_078905 Q71F23 CENPU_HUMAN Homo sapiens MLF1 interacting protein (MLF1IP), mRNA. 329 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) GTATCTTACCGAAGCAGTTCA 0.363000 65 39 0 0 0.010771 0 0 TICAM1 148022 broad.mit.edu 37 19 4817600 4817600 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:4817600G>A uc002mbi.3 - 1 1041 c.790C>T c.(790-792)Cca>Tca p.P264S TICAM1_uc021unj.1_Missense_Mutation_p.P264S NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 264 Pro-rich. I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGCTCTGGTGGGCTGGCAATC 0.677000 36 16 0 0 0.003163 0 0 MESDC2 23184 broad.mit.edu 37 15 81271781 81271781 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:81271781G>A uc002bfy.1 - 2 557 c.484C>T c.(484-486)Cgc>Tgc p.R162C MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Intron NM_015154 NP_055969 Q14696 MESD_HUMAN Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA. 162 Chaperone domain (By similarity). Wnt receptor signaling pathway|mesoderm development|protein folding endoplasmic reticulum cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1) 8 CTCCCATCGCGAAGCATGAAG 0.547000 28 17 0 0 0.006122 0 0 KIAA1467 57613 broad.mit.edu 37 12 13220169 13220169 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:13220169G>A uc001rbi.3 + 6 1104 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K KIAA1467_uc021qvn.1_Intron NM_020853 NP_065904 A2RU67 K1467_HUMAN Homo sapiens KIAA1467 (KIAA1467), mRNA. 361 integral to membrane NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4) 36 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TCTGCAGATAGAAGAGCCAGA 0.483000 61 40 0 0 0.006230 0 0 NRXN3 9369 broad.mit.edu 37 14 79181157 79181157 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:79181157C>T uc001xun.3 + 4 1091 c.600C>T c.(598-600)atC>atT p.I200I NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.I334I NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 206 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGAGCGAGATCCTGGACCTGG 0.587000 68 64 0 0 0.014410 0 0 MYH7 4625 broad.mit.edu 37 14 23891495 23891495 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:23891495C>T uc001wjx.3 - 24 3245 c.3139G>A c.(3139-3141)Gac>Aac p.D1047N NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 1047 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CGCTCCAGGTCCATGCGCACC 0.577000 30 15 0 0 0.004007 0 0 FAM13C 220965 broad.mit.edu 37 10 61011251 61011251 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:61011251C>T uc010qif.1 - 12 1850 c.1784G>A c.(1783-1785)cGg>cAg p.R595Q FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron NM_198215 NP_937858 Q8NE31 FA13C_HUMAN Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA. 0 NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AAAAAGTCACCGTTCCTGCAA 0.358000 3 37 0 0 0.015359 0 0 KIF3B 9371 broad.mit.edu 37 20 30918011 30918011 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:30918011C>T uc002wxq.3 + 7 2216 c.2036C>T c.(2035-2037)gCc>gTc p.A679V KIF3B_uc010ztw.2_Missense_Mutation_p.A617V NM_004798 NP_004789 O15066 KIF3B_HUMAN Homo sapiens kinesin family member 3B (KIF3B), mRNA. 679 Globular. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGGGTCCAGCCATTGCCCCC 0.517000 23 18 0 0 0.004990 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140189147 140189147 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:140189147C>T uc003lhi.2 + 0 2476 c.2375C>T c.(2374-2376)tCc>tTc p.S792F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.S792F|PCDHAC2_uc011daa.2_Missense_Mutation_p.S792F NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 852 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGAGGAATCCTTTGCAAAG 0.423000 8 39 0 0 0.010771 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656313 40656313 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:40656313G>A uc002rrx.3 - 0 1132 c.1108C>T c.(1108-1110)Cgc>Tgc p.R370C SLC8A1_uc002rry.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsb.2_Missense_Mutation_p.R370C|SLC8A1_uc002rrz.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsa.3_Missense_Mutation_p.R370C|SLC8A1_uc002rsd.4_Missense_Mutation_p.R370C|SLC8A1_uc010fan.1_Missense_Mutation_p.R370C|SLC8A1_uc002rsc.1_Missense_Mutation_p.R370C NM_021097 NP_066920 P32418 NAC1_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA. 370 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.R370S(2) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GTCATGAGGCGAGTAGCTTGA 0.428000 63 46 0 0 0.014410 0 0 NRAS 4893 broad.mit.edu 37 1 115256530 115256530 + Missense_Mutation SNP G T T rs121913254 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:115256530G>T uc009wgu.3 - 2 435 c.181C>A c.(181-183)Caa>Aaa p.Q61K NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTCTTCTTGTCCAGCTGTA 0.458000 Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 77 57 2.40265e-35 4.21427e-35 0.014410 1 0 C12orf63 374467 broad.mit.edu 37 12 97137677 97137677 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:97137677C>T uc021rcc.1 + 20 2899 c.2821C>T c.(2821-2823)Cta>Tta p.L941L Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 941 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TCATAGCATTCTAACTGAACA 0.383000 9 28 0 0 0.009535 0 0 AKR1D1 6718 broad.mit.edu 37 7 137773460 137773460 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:137773460G>A uc003vtz.3 + 1 294 c.207G>A c.(205-207)agG>agA p.R69R AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Silent_p.R69R|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Silent_p.R69R|AKR1D1_uc011kqe.1_Silent_p.R69R|RN7SK_uc022amj.1_5'Flank NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 69 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 AGGCCATCAGGGAGAAGATAG 0.502000 12 12 0 0 0.010729 0 0 EPHA10 284656 broad.mit.edu 37 1 38227533 38227533 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:38227533C>T uc009vvi.3 - 2 480 c.394G>A c.(394-396)Gaa>Aaa p.E132K EPHA10_uc001cbw.4_Missense_Mutation_p.E132K NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 132 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTCAGTTTCCAGGTAGTAG 0.657000 65 53 0 0 0.014410 0 0 OR13C3 138803 broad.mit.edu 37 9 107298467 107298467 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:107298467C>T uc004bcb.1 - 0 628 c.628G>A c.(628-630)Gaa>Aaa p.E210K NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GCTAATATTTCACATGCGAAA 0.423000 65 53 0 0 0.014410 0 0 GRM7 2917 broad.mit.edu 37 3 7456736 7456736 + Missense_Mutation SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:7456736A>G uc003bqm.2 + 4 1334 c.1060A>G c.(1060-1062)Aca>Gca p.T354A GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.T354A|GRM7_uc003bql.2_Missense_Mutation_p.T354A|GRM7_uc003bqn.1_5'UTR NM_000844 NP_000835 Q14831 GRM7_HUMAN Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA. 354 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TACGTCCCGTACACTTGAAAA 0.398000 36 3 0 0 0.004672 0 0 OR4S2 219431 broad.mit.edu 37 11 55419000 55419000 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:55419000G>A uc001nhs.1 + 0 621 c.621G>A c.(619-621)ggG>ggA p.G207G NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA. 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) TTGCTCTGGGGAGTTTTGTTA 0.483000 11 64 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179472337 179472337 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179472337G>A uc021vsy.1 - 225 45599 c.45374C>T c.(45373-45375)cCa>cTa p.P15125L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P8820L|TTN_uc021vta.1_Missense_Mutation_p.P8753L|TTN_uc021vtb.1_Missense_Mutation_p.P8628L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 16052 Fibronectin type-III 10. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CACCACAGCTGGAATTCTAAG 0.458000 145 112 0 0 0.014410 0 0 OVOS2 0 broad.mit.edu 37 12 31298405 31298405 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:31298405G>A uc010sjy.1 - 11 1580 c.1580C>T c.(1579-1581)cCc>cTc p.P527L RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) TTCCCCACTGGGGTGAAGGGT 0.493000 13 13 0 0 0.004007 0 0 TCN2 6948 broad.mit.edu 37 22 31010335 31010335 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:31010335G>A uc003aip.2 + 4 677 c.428_splice c.e4-1 p.G143_splice TCN2_uc003air.2_Splice_Site_p.W116_splice NM_000355 NP_000346 P20062 TCO2_HUMAN Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA. 143 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCCCTCTCAGGGCATGATCA 0.612000 17 15 0 0 0.003163 0 0 TRPC4 7223 broad.mit.edu 37 13 38266172 38266172 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:38266172T>C uc010abx.3 - 3 1433 c.1198A>G c.(1198-1200)Acc>Gcc p.T400A TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.T400A|TRPC4_uc001uws.3_Missense_Mutation_p.T400A|TRPC4_uc010tey.2_Missense_Mutation_p.T400A|TRPC4_uc010abw.3_Missense_Mutation_p.T227A|TRPC4_uc010aby.3_Missense_Mutation_p.T400A NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 400 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGACGATGGTTGGTGGTGGA 0.453000 34 36 0 0 0.006230 0 0 CPZ 8532 broad.mit.edu 37 4 8621281 8621281 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:8621281C>T uc003glm.3 + 10 2070 c.1896C>T c.(1894-1896)ccC>ccT p.P632P CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.P621P|CPZ_uc003gln.3_Silent_p.P495P NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 632 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GGAGTAAGCCCTGGTGGTGGT 0.706000 27 26 0 0 0.008361 0 0 ZNF714 148206 broad.mit.edu 37 19 21300565 21300565 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:21300565G>A uc002npo.4 + 4 1473 c.1095G>A c.(1093-1095)gaG>gaA p.E365E ZNF714_uc002npl.3_Silent_p.E211E|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 ATACTGGAGAGAAACCCTACA 0.368000 15 13 0 0 0.016723 0 0 SUGP1 57794 broad.mit.edu 37 19 19427294 19427294 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:19427294G>A uc002nmh.3 - 1 159 c.143C>T c.(142-144)gCc>gTc p.A48V SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA. 48 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 TTCCATTTTGGCTTCAATTTC 0.537000 42 29 0 0 0.009535 0 0 USP37 57695 broad.mit.edu 37 2 219394755 219394755 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:219394755G>A uc010fvs.1 - 9 1200 c.787C>T c.(787-789)Cct>Tct p.P263S USP37_uc002vie.2_Missense_Mutation_p.P263S|USP37_uc010zkf.1_Missense_Mutation_p.P263S|USP37_uc002vif.2_Missense_Mutation_p.P263S|USP37_uc002vig.2_Missense_Mutation_p.P191S|USP37_uc010zkg.2_Missense_Mutation_p.P263S NM_020935 NP_065986 Q86T82 UBP37_HUMAN Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA. 263 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GACTGTAAAGGTAAAAGCCCT 0.328000 26 24 0 0 0.007291 0 0 FCRL3 115352 broad.mit.edu 37 1 157660321 157660321 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:157660321G>A uc001fqz.4 - 8 1706 c.1414C>T c.(1414-1416)Ccg>Tcg p.P472S FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.P198S|FCRL3_uc001frb.3_Missense_Mutation_p.P472S|FCRL3_uc001frc.1_Missense_Mutation_p.P472S NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 472 integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) CGAGACACCGGAACTGAGGGA 0.537000 36 30 0 0 0.009535 0 0 GHR 2690 broad.mit.edu 37 5 42695075 42695075 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:42695075G>A uc021xxv.1 + 4 481 c.344G>A c.(343-345)gGg>gAg p.G115E GHR_uc003jmt.3_Missense_Mutation_p.G108E|GHR_uc003jmu.3_Missense_Mutation_p.G108E|GHR_uc003jmv.2_Missense_Mutation_p.G108E|GHR_uc021xxw.1_Missense_Mutation_p.G108E|GHR_uc021xxx.1_Missense_Mutation_p.G108E|GHR_uc021xxy.1_Missense_Mutation_p.G108E|GHR_uc021xxz.1_Missense_Mutation_p.G108E|GHR_uc021xya.1_Missense_Mutation_p.G108E|GHR_uc021xyb.1_Missense_Mutation_p.G108E|GHR_uc021xyc.1_Missense_Mutation_p.G108E|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.G86E NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 108 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTTCTGCTGGGGAAAACAGC 0.358000 2 15 0 0 0.003163 0 0 SLC9A4 389015 broad.mit.edu 37 2 103148791 103148791 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:103148791G>A uc002tbz.4 + 11 2498 c.2041G>A c.(2041-2043)Gat>Aat p.D681N NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 681 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TTTCCTAGATGATGACAGCAG 0.443000 57 42 0 0 0.014410 0 0 TRIOBP 11078 broad.mit.edu 37 22 38130518 38130518 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:38130518C>T uc003atr.3 + 8 4446 c.4175C>T c.(4174-4176)tCc>tTc p.S1392F TRIOBP_uc003atu.3_Missense_Mutation_p.S1220F NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 1392 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCCAGGGGTCCCCGCTGCCC 0.657000 19 8 0 0 0.004482 0 0 MIIP 60672 broad.mit.edu 37 1 12091449 12091449 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:12091449C>T uc001ato.2 + 8 1462 c.1069C>T c.(1069-1071)Cct>Tct p.P357S NM_021933 NP_068752 Q5JXC2 MIIP_HUMAN Homo sapiens migration and invasion inhibitory protein (MIIP), mRNA. 357 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CACCAGCAGCCCTTTTCACCC 0.647000 4 43 0 0 0.014410 0 0 X97876 0 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:66499680C>A uc004aee.1 + 0 490 c.490C>A c.(490-492)Ccc>Acc p.P164T X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). TCATGTTAACCCCTTCCCAGG 0.582000 29 7 5.18039e-06 8.7586e-06 0.003080 1 0 OR4K2 390431 broad.mit.edu 37 14 20345295 20345295 + Missense_Mutation SNP G T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:20345295G>T uc001vwh.1 + 0 869 c.869G>T c.(868-870)aGg>aTg p.R290M NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TATACTTTGAGGAATCAAGAA 0.358000 74 26 1.2476e-16 2.15375e-16 0.006320 1 0 NPFFR2 10886 broad.mit.edu 37 4 73013454 73013454 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:73013454G>A uc003hgg.2 + 3 1592 c.1494G>A c.(1492-1494)agG>agA p.R498R NPFFR2_uc010iig.2_Silent_p.R280R|NPFFR2_uc003hgi.2_Silent_p.R399R|NPFFR2_uc003hgh.2_Silent_p.R396R NM_004885 NP_444264 Q9Y5X5 NPFF2_HUMAN Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA. 498 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TGCTTTATAGGAAAAGTGCTG 0.373000 59 33 0 0 0.017118 0 0 FLNC 2318 broad.mit.edu 37 7 128490916 128490916 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:128490916G>A uc003vnz.4 + 32 5667 c.5458G>A c.(5458-5460)Ggc>Agc p.G1820S FLNC_uc003voa.4_Missense_Mutation_p.G1787S NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1820 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 CAACAAGGACGGCACCATCAC 0.607000 61 44 0 0 0.013114 0 0 TMPRSS11E 28983 broad.mit.edu 37 4 69344581 69344581 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:69344581C>T uc003hdz.4 + 8 1046 c.982C>T c.(982-984)Cat>Tat p.H328Y NM_014058 NP_054777 Q9UL52 TM11E_HUMAN Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA. 328 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity endometrium(1)|lung(19)|pancreas(1)|skin(3) 24 CAGTCAAAATCATCTTCGACA 0.343000 73 60 0 0 0.014410 0 0 OR4A5 81318 broad.mit.edu 37 11 51411646 51411646 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:51411646G>A uc001nhi.2 - 0 803 c.750C>T c.(748-750)ccC>ccT p.P250P NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P250Q(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TGAAAATACAGGGTACAAAAA 0.393000 30 18 0 0 0.006122 0 0 MFGE8 4240 broad.mit.edu 37 15 89449881 89449881 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:89449881G>A uc002bng.4 - 3 629 c.516C>T c.(514-516)atC>atT p.I172I MFGE8_uc002bnf.4_Silent_p.I60I|MFGE8_uc002bnh.4_Silent_p.I172I|MFGE8_uc010bnn.3_Silent_p.I164I|MFGE8_uc010upq.2_Silent_p.I128I|MFGE8_uc010bno.3_Silent_p.I128I NM_005928 NP_005919 Q08431 MFGM_HUMAN Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA. 172 F5/8 type C 1. angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) TAACATCATGGATGAAATCGA 0.522000 56 45 0 0 0.014410 0 0 GP2 2813 broad.mit.edu 37 16 20329728 20329728 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:20329728C>T uc002dgv.3 - 7 1124 c.1041G>A c.(1039-1041)ggG>ggA p.G347G GP2_uc002dgw.3_Silent_p.G344G|GP2_uc002dgx.3_Silent_p.G200G|GP2_uc002dgy.3_Silent_p.G197G NM_001007240 NP_001007241 P55259 GP2_HUMAN Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA. 347 ZP. anchored to membrane|extracellular region|plasma membrane p.G346E(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ACTCTCCATTCCCGTCCACAC 0.473000 101 91 0 0 0.014410 0 0 NLRP7 199713 broad.mit.edu 37 19 55451265 55451265 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:55451265C>T uc002qih.4 - 3 998 c.922G>A c.(922-924)Gac>Aac p.D308N NLRP7_uc010esk.3_Missense_Mutation_p.D308N|NLRP7_uc002qig.4_Missense_Mutation_p.D308N|NLRP7_uc002qii.4_Missense_Mutation_p.D308N|NLRP7_uc010esl.3_Missense_Mutation_p.D336N NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 308 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGCTGGAGGTCCCTCAGTGCC 0.617000 22 29 0 0 0.006320 0 0 ABCC1 4363 broad.mit.edu 37 16 16205272 16205272 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:16205272G>A uc010bvi.3 + 21 3087 c.2912G>A c.(2911-2913)gGa>gAa p.G971E ABCC1_uc010bvj.3_Missense_Mutation_p.G912E|ABCC1_uc010bvk.3_Missense_Mutation_p.G915E|ABCC1_uc010bvl.3_Missense_Mutation_p.G971E|ABCC1_uc010bvm.3_Missense_Mutation_p.G856E|ABCC1_uc002del.4_Missense_Mutation_p.G865E NM_004996 NP_004987 P33527 MRP1_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA. 971 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AAGGCCATCGGACTCTTCATC 0.547000 109 82 0 0 0.014410 0 0 ANKRD11 29123 broad.mit.edu 37 16 89357183 89357183 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:89357183G>A uc002fmx.1 - 5 912 c.451C>T c.(451-453)Ccc>Tcc p.P151S ANKRD11_uc002fmy.1_Missense_Mutation_p.P151S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P151S|ANKRD11_uc002fnd.3_Missense_Mutation_p.P117S|ANKRD11_uc002fne.3_Missense_Mutation_p.P117S|ANKRD11_uc002fnb.1_Missense_Mutation_p.P108S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 151 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCAGAGTTGGGCGTTCCCTTC 0.592000 53 47 0 0 0.014410 0 0 SFI1 9814 broad.mit.edu 37 22 31942914 31942914 + Nonsense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:31942914C>T uc003ale.3 + 4 799 c.406C>T c.(406-408)Cag>Tag p.Q136* SFI1_uc003ald.1_Nonsense_Mutation_p.Q112*|SFI1_uc003alf.3_Nonsense_Mutation_p.Q136*|SFI1_uc003alg.3_Nonsense_Mutation_p.Q54*|SFI1_uc011alp.2_Nonsense_Mutation_p.Q54*|SFI1_uc011alq.2_Nonsense_Mutation_p.Q112*|SFI1_uc003alh.3_Non-coding_Transcript NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA. 136 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 GTGGGTTTTCCAGCACGAGTG 0.393000 67 51 0 0 0.014410 0 0 TFPI2 7980 broad.mit.edu 37 7 93516204 93516204 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:93516204C>T uc003umy.1 - 4 711 c.636G>A c.(634-636)ttG>ttA p.L212L GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.*187*|TFPI2_uc003una.1_Silent_p.L201L NM_006528 NP_006519 P48307 TFPI2_HUMAN Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA. 212 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TTTTCTTTTTCAAAGCTAAAA 0.333000 78 61 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179474673 179474673 + Silent SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179474673A>G uc021vsy.1 - 220 43998 c.43773T>C c.(43771-43773)ccT>ccC p.P14591P MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P8286P|TTN_uc021vta.1_Silent_p.P8219P|TTN_uc021vtb.1_Silent_p.P8094P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15518 Fibronectin type-III 5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCTCCGCTGTAGGATTATGAA 0.403000 168 11 0 0 0.010729 0 0 HIVEP3 59269 broad.mit.edu 37 1 42049071 42049071 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:42049071C>T uc001cgz.4 - 3 2611 c.1398G>A c.(1396-1398)acG>acA p.T466T HIVEP3_uc001cha.4_Silent_p.T466T|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 466 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TGATGAGCTTCGTGATGTGCT 0.637000 37 29 0 0 0.008361 0 0 KIF3C 3797 broad.mit.edu 37 2 26178485 26178485 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:26178485C>T uc002rgu.2 - 2 2352 c.1695G>A c.(1693-1695)gaG>gaA p.E565E KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Silent_p.E565E NM_002254 NP_002245 O14782 KIF3C_HUMAN Homo sapiens kinesin family member 3C (KIF3C), mRNA. 565 blood coagulation|microtubule-based movement cytosol|kinesin complex|microtubule ATP binding|microtubule motor activity breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCATAGTCTCCTCGTCCCGGA 0.592000 87 7 0 0 0.003080 0 0 C1orf173 127254 broad.mit.edu 37 1 75038347 75038347 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:75038347C>T uc001dgg.3 - 13 3266 c.3047G>A c.(3046-3048)gGa>gAa p.G1016E NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 1016 Glu-rich. p.G1016R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGCAAGGCTTCCTTCCTCAGG 0.507000 43 39 0 0 0.021022 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917193 42917193 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:42917193G>A uc003cmh.3 - 0 441 c.116C>T c.(115-117)aCc>aTc p.T39I CCBP2_uc003cmg.3_Intron NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA. 39 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) CCAGGGCACGGTACCCTTGTC 0.577000 33 36 0 0 0.006230 0 0 EMR3 84658 broad.mit.edu 37 19 14779619 14779619 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:14779619G>A uc002mzi.4 - 1 219 c.71C>T c.(70-72)aCc>aTc p.T24I EMR3_uc010dzp.3_Missense_Mutation_p.T24I|EMR3_uc010xnv.2_Missense_Mutation_p.T24I NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 24 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 CTCACTTTTGGTTTTCTGAGT 0.512000 44 21 0 0 0.012319 0 0 ZNF714 148206 broad.mit.edu 37 19 21300550 21300550 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:21300550G>A uc002npo.4 + 4 1458 c.1080G>A c.(1078-1080)atG>atA p.M360I ZNF714_uc002npl.3_Missense_Mutation_p.M206I|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CACATAAGATGATTCATACTG 0.353000 15 14 0 0 0.016723 0 0 ECM2 1842 broad.mit.edu 37 9 95277159 95277159 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:95277159C>T uc011lty.2 - 3 995 c.808G>A c.(808-810)Gag>Aag p.E270K CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.E248K|ECM2_uc004asg.3_Missense_Mutation_p.E248K NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 270 Poly-Glu. cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 tcctcctcctccCTTCCTTGG 0.602000 87 76 0 0 0.014410 0 0 BMX 660 broad.mit.edu 37 X 15555257 15555257 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:15555257G>A uc004cww.3 + 14 1411 c.1223_splice c.e14-1 p.G408_splice BMX_uc004cwx.4_Splice_Site_p.G408_splice|BMX_uc004cwy.4_Splice_Site_p.G408_splice NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 408 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) GCCTTGTTAGGAATCTGGGAA 0.483000 11 111 0 0 0.014410 0 0 PCDP1 200373 broad.mit.edu 37 2 120388367 120388367 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:120388367C>T uc002tmb.3 + 19 2118 c.1006C>T c.(1006-1008)Ctt>Ttt p.L336F PCDP1_uc010yyq.2_Missense_Mutation_p.L466F NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 622 cilium calmodulin binding Colorectal(110;0.196) CATCACAGCCCTTCCGAAACA 0.468000 46 49 0 0 0.014410 0 0 LRIF1 55791 broad.mit.edu 37 1 111494240 111494240 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:111494240G>A uc001eaa.3 - 1 1522 c.1266C>T c.(1264-1266)tcC>tcT p.S422S LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA. 422 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TCTCCATCTGGGAAGATTTAC 0.408000 95 91 0 0 0.014410 0 0 CDH15 1013 broad.mit.edu 37 16 89260307 89260307 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:89260307G>A uc002fmt.3 + 12 2214 c.2137G>A c.(2137-2139)Gac>Aac p.D713N NM_004933 NP_004924 P55291 CAD15_HUMAN Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA. 713 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGACATCGCCGACTTCATCAA 0.647000 20 14 0 0 0.020292 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C G G rs3874227 by1000genomes TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:25161397C>G uc001upm.3 + 7 c.921C>G TPTE2P6_uc001upn.3_Non-coding_Transcript|TPTE2P6_uc001upo.3_Non-coding_Transcript Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. TGAAACATCTCTACAACTGGA 0.343000 23 3 0 0 0.004672 0 0 SND1 27044 broad.mit.edu 37 7 127343259 127343259 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:127343259C>T uc003vmi.3 + 6 948 c.722C>T c.(721-723)cCa>cTa p.P241L NM_014390 NP_055205 Q7KZF4 SND1_HUMAN Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA. 241 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|melanosome|nucleus nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 AGTGAAACTCCAGAGCCTTTT 0.488000 55 36 0 0 0.017118 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798293 1798294 + Nonsense_Mutation DNP CC AA AA TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:1798293_1798294CC>AA uc010uvl.2 + 6 1163_1164 c.1043_1044CC>AA c.(1042-1044)tcc>tAA p.S348* MAPK8IP3_uc002cmk.3_Nonsense_Mutation_p.S347*|MAPK8IP3_uc002cml.3_Nonsense_Mutation_p.S347*|MAPK8IP3_uc021tah.1_Nonsense_Mutation_p.S347* NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 347 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 ATTATTGACTCCACGCCAGAGC 0.609000 38 8 0 0 0.004672 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 102216 102216 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrGL000209.1:102216T>C uc021vdb.1 + 2 162 c.151T>C c.(151-153)Tca>Cca p.S51P KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.S51P NM_014513 NP_055328 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5), mRNA. 51 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity GCAATGTTGGTCAGATGTCAT 0.512000 109 5 0 0 0.001984 0 0 CPPED1 55313 broad.mit.edu 37 16 12758963 12758963 + Missense_Mutation SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:12758963A>G uc002dca.4 - 3 836 c.725T>C c.(724-726)gTc>gCc p.V242A CPPED1_uc002dcb.4_Missense_Mutation_p.V100A NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA. 242 hydrolase activity|metal ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1) 18 TGAGAACACGACTTTGACACC 0.517000 22 7 0 0 0.006214 0 0 SGSM3 27352 broad.mit.edu 37 22 40803207 40803207 + Nonsense_Mutation SNP G T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:40803207G>T uc003ayu.1 + 11 1452 c.1243G>T c.(1243-1245)Gag>Tag p.E415* SGSM3_uc011aos.1_Nonsense_Mutation_p.E348*|SGSM3_uc011aot.1_Nonsense_Mutation_p.E352* NM_015705 NP_056520 Q96HU1 SGSM3_HUMAN Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA. 415 Rap protein signal transduction|cell cycle arrest cytoplasm Rab GTPase activator activity|Rab GTPase binding cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6) 19 CCTCCTAGGGGAGGATGACCT 0.632000 29 22 9.95505e-16 1.70956e-15 0.014323 1 0 SCAP 22937 broad.mit.edu 37 3 47462218 47462218 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:47462218G>A uc003crh.1 - 11 1644 c.1389C>T c.(1387-1389)ccC>ccT p.P463P SCAP_uc011baz.1_Silent_p.P208P|SCAP_uc003crg.2_Silent_p.P71P NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 463 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GCTTGGCTGAGGGCAGGCAGG 0.647000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 22 0 0 0.021523 0 0 TTN 7273 broad.mit.edu 37 2 179628974 179628974 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:179628974G>A uc021vsy.1 - 42 10269 c.10044C>T c.(10042-10044)atC>atT p.I3348I TTN_uc021vsz.1_Silent_p.I3302I|TTN_uc021vta.1_Silent_p.I3302I|TTN_uc021vtb.1_Silent_p.I3302I|TTN_uc002umz.1_Silent_p.I9I|TTN_uc002unb.2_Silent_p.I3348I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4292 Ig-like 20. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAAGCGGGGTGATGATGGCAG 0.463000 30 37 0 0 0.017118 0 0 JA660597 0 broad.mit.edu 37 16 33965518 33965518 + RNA SNP G A A rs483066 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:33965518G>A uc021thn.1 + 0 c.11G>A Sequence 663 from Patent WO2010139812. ATTGATCATCGACACTTCGAA 0.557000 16 12 0 0 0.016723 0 0 ABL1 25 broad.mit.edu 37 9 133759967 133759967 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:133759967C>G uc004bzw.3 + 10 2293 c.2290C>G c.(2290-2292)Cgg>Ggg p.R764G ABL1_uc004bzv.3_Missense_Mutation_p.R783G NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 764 DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GGCTCTGCCTCGGAAGAGGGC 0.587000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 44 22 0 0 0.010504 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107462 107462 + RNA SNP A T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrGL000211.1:107462A>T uc003boa.3 + 4 c.1002A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. GTAAGGGTCAATTTTTTATAT 0.294000 66 5 0 0 0.014758 0 0 GLI2 2736 broad.mit.edu 37 2 121726377 121726377 + Missense_Mutation SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:121726377A>G uc010flp.3 + 4 761 c.731A>G c.(730-732)gAc>gGc p.D244G GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Silent_p.G114G|GLI2_uc010flo.1_Missense_Mutation_p.D119G|GLI2_uc002tmw.1_Missense_Mutation_p.D244G NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 244 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCAGCCTGGACCTGCAGCGG 0.652000 76 10 0 0 0.013537 0 0 C1orf168 199920 broad.mit.edu 37 1 57189292 57189292 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:57189292C>G uc001cym.4 - 16 2349 c.1943G>C c.(1942-1944)aGa>aCa p.R648T C1orf168_uc001cyl.3_Non-coding_Transcript NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA. 648 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTTTTCTTCTCTTTTCATTCT 0.308000 11 13 0 0 0.013537 0 0 LIPE 3991 broad.mit.edu 37 19 42930801 42930801 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:42930801C>T uc002otr.3 - 0 778 c.501G>A c.(499-501)agG>agA p.R167R AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank NM_005357 NP_005348 Q05469 LIPS_HUMAN Homo sapiens lipase, hormone-sensitive (LIPE), mRNA. 167 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) CAGATGGCTCCCTTTTGGCTC 0.572000 53 43 0 0 0.014410 0 0 SLC15A2 6565 broad.mit.edu 37 3 121613329 121613329 + Missense_Mutation SNP T A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:121613329T>A uc003eep.2 + 0 159 c.6T>A c.(4-6)aaT>aaA p.N2K SLC15A2_uc011bjn.1_Missense_Mutation_p.N2K NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 2 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) CAGCCATGAATCCTTTCCAGA 0.498000 125 8 0 0 0.003080 0 0 GBF1 8729 broad.mit.edu 37 10 104120095 104120095 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:104120095C>T uc001kux.2 + 11 1626 c.1332C>T c.(1330-1332)gcC>gcT p.A444A GBF1_uc001kuw.3_3'UTR|GBF1_uc001kuy.2_Silent_p.A444A|GBF1_uc001kuz.2_Silent_p.A445A NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 444 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) CCCCTGTAGCCCAGTGCCAGA 0.527000 13 70 0 0 0.014410 0 0 OR4N2 390429 broad.mit.edu 37 14 20295728 20295728 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:20295728G>A uc010tkv.2 + 0 121 c.121G>A c.(121-123)Gga>Aga p.G41R NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CATCCTCCCTGGAAATTTTCT 0.443000 254 111 0 0 0.014410 0 0 SLAMF8 56833 broad.mit.edu 37 1 159804974 159804974 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:159804974G>A uc001fue.4 + 5 992 c.782_splice c.e5-1 p.G261_splice VSIG8_uc001fug.1_3'UTR NM_020125 NP_064510 Q9P0V8 SLAF8_HUMAN Homo sapiens SLAM family member 8 (SLAMF8), mRNA. 261 integral to membrane endometrium(2)|large_intestine(4)|lung(6) 12 all_hematologic(112;0.0597) TCCTTACCAGGGAAAAAGAAA 0.498000 33 18 0 0 0.007413 0 0 EPHA4 2043 broad.mit.edu 37 2 222308250 222308250 + Missense_Mutation SNP G C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:222308250G>C uc002vmq.3 - 9 1893 c.1851C>G c.(1849-1851)gaC>gaG p.D617E EPHA4_uc002vmr.2_Missense_Mutation_p.D617E|EPHA4_uc010zlm.1_Missense_Mutation_p.D558E NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 617 integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) TGCAGGATGCGTCAATTTCTT 0.408000 35 19 0 0 0.010504 0 0 RP1L1 94137 broad.mit.edu 37 8 10470689 10470689 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:10470689C>T uc003wtc.3 - 3 1148 c.919G>A c.(919-921)Gat>Aat p.D307N NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 307 intracellular signal transduction p.D307N(2) breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCATGTCATCGCCAGCCACC 0.647000 8 75 0 0 0.014410 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895678 24895678 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:24895678C>T uc001upj.3 + 3 835 c.774C>T c.(772-774)ttC>ttT p.F258F SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 258 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) TCACTGTTTTCTCCAGAAATG 0.448000 33 56 0 0 0.014410 0 0 LRTM1 57408 broad.mit.edu 37 3 54959002 54959002 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:54959002T>C uc003dhl.3 - 1 382 c.248A>G c.(247-249)aAc>aGc p.N83S CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 83 integral to membrane p.N83S(2) breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) AAGGGAATTGTTGGACAAGTT 0.453000 30 15 0 0 0.020292 0 0 MUC16 94025 broad.mit.edu 37 19 9089213 9089213 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:9089213C>T uc002mkp.3 - 0 2806 c.2602G>A c.(2602-2604)Gaa>Aaa p.E868K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 868 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 TTCGAAGTTTCCTCTGTTTCT 0.478000 32 23 0 0 0.014323 0 0 PMFBP1 83449 broad.mit.edu 37 16 72173222 72173222 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:72173222G>A uc002fcc.4 - 6 1056 c.884C>T c.(883-885)cCt>cTt p.P295L PMFBP1_uc002fcd.3_Missense_Mutation_p.P295L|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.P150L NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 295 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGAGGAGCTAGGAGGGTATCT 0.468000 38 32 0 0 0.019004 0 0 RAET1K 646024 broad.mit.edu 37 6 150322321 150322321 + RNA SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:150322321C>T uc003qnq.3 - 1 c.556G>A Homo sapiens retinoic acid early transcript 1K pseudogene (RAET1K), non-coding RNA. CCCCACCCTGCTTCCTTTCCT 0.512000 2 6 0 0 0.001168 0 0 PI4KA 5297 broad.mit.edu 37 22 21174114 21174114 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:21174114C>G uc002zsz.4 - 5 691 c.430G>C c.(430-432)Gag>Cag p.E144Q PI4KA_uc010gsq.2_Missense_Mutation_p.E230Q NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 144 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) AGGAGAGACTCTTCCATGTTG 0.468000 102 63 0 0 0.014410 0 0 CLCN1 1180 broad.mit.edu 37 7 143028644 143028644 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:143028644G>A uc003wcr.1 + 10 1152 c.1065_splice c.e10-1 p.G355_splice CLCN1_uc011ktc.1_Splice_Site_p.G17_splice NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 355 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACACCCTCAGGATTTGCTGTG 0.473000 35 30 0 0 0.008361 0 0 HIGD2B 123346 broad.mit.edu 37 15 72972411 72972411 + RNA SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:72972411C>T uc002ava.3 - 1 c.456G>A Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA. TCATATTCCTCATAGATTCCC 0.453000 9 5 0 0 0.014758 0 0 ADCY10 55811 broad.mit.edu 37 1 167874300 167874300 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:167874300C>T uc001ger.3 - 1 377 c.79G>A c.(79-81)Gga>Aga p.G27R ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_5'UTR|ADCY10_uc009wvl.3_Missense_Mutation_p.G27R|ADCY10_uc009wvm.2_Non-coding_Transcript NM_018417 NP_001161221 Q96PN6 ADCYA_HUMAN Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA. 27 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction ATP binding|adenylate cyclase activity|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 GAGAAATGTCCATAGACAATG 0.413000 54 38 0 0 0.019004 0 0 BMP10 27302 broad.mit.edu 37 2 69093611 69093611 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:69093611C>T uc002sez.1 - 1 586 c.427G>A c.(427-429)Gct>Act p.A143T NM_014482 NP_055297 O95393 BMP10_HUMAN Homo sapiens bone morphogenetic protein 10 (BMP10), mRNA. 143 A -> T (in Ref. 3; AAH69080). BMP signaling pathway|Notch signaling pathway|activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis Z disc|cell surface|extracellular space cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 CTAAGTTCAGCCATGATGACC 0.453000 28 21 0 0 0.010504 0 0 KCNK1 3775 broad.mit.edu 37 1 233807194 233807194 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:233807194G>A uc010pxo.1 + 2 1097 c.929G>A c.(928-930)gGc>gAc p.G310D NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 310 voltage-gated potassium channel complex inward rectifier potassium channel activity p.G310S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CAGGCAGCTGGCATGAAAGAG 0.498000 33 28 0 0 0.007291 0 0 ABCA13 154664 broad.mit.edu 37 7 48317732 48317732 + Missense_Mutation SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:48317732A>G uc003toq.2 + 17 6965 c.6941A>G c.(6940-6942)gAt>gGt p.D2314G NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 2314 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CTGAAACTGGATCAATTTCTT 0.239000 9 8 0 0 0.003080 0 0 PTPRT 11122 broad.mit.edu 37 20 41420038 41420038 + Missense_Mutation SNP G T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:41420038G>T uc002xkg.3 - 2 467 c.283C>A c.(283-285)Ctg>Atg p.L95M PTPRT_uc010ggj.3_Missense_Mutation_p.L95M NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 95 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTCTCCTTCAGGGTTGGCAGG 0.557000 29 6 3.59834e-05 6.05259e-05 0.001168 1 0 UBQLN1 29979 broad.mit.edu 37 9 86281333 86281333 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:86281333G>A uc004amv.3 - 7 1838 c.1264C>T c.(1264-1266)Ccc>Tcc p.P422S UBQLN1_uc004amw.3_Intron NM_013438 NP_038466 Q9UMX0 UBQL1_HUMAN Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA. 422 apoptosis|regulation of protein ubiquitination|response to hypoxia endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex kinase binding breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1) 27 GCAAATAGGGGATTATTCAGC 0.388000 37 24 0 0 0.005443 0 0 HSD17B11 51170 broad.mit.edu 37 4 88258515 88258515 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:88258515G>A uc003hqp.2 - 6 1049 c.816C>T c.(814-816)atC>atT p.I272I NM_016245 NP_057329 Q8NBQ5 DHB11_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA. 272 androgen catabolic process|steroid biosynthetic process cytoplasm|extracellular region binding|estradiol 17-beta-dehydrogenase activity cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2) 11 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000339) GCTCAGGAAGGATCCTAAAAG 0.294000 43 32 0 0 0.010818 0 0 RNF17 56163 broad.mit.edu 37 13 25453355 25453355 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:25453355T>C uc001upr.3 + 34 4845 c.4804T>C c.(4804-4806)Tat>Cat p.Y1602H RNF17_uc010tde.2_Missense_Mutation_p.Y1598H|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.Y1541H|RNF17_uc010aac.3_Missense_Mutation_p.Y794H|RNF17_uc010aad.3_Missense_Mutation_p.Y612H NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1602 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AGTGACATTATATGACGATGA 0.393000 22 3 0 0 0.004672 0 0 PI4KA 5297 broad.mit.edu 37 22 21174134 21174134 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:21174134C>G uc002zsz.4 - 5 671 c.410G>C c.(409-411)gGg>gCg p.G137A PI4KA_uc010gsq.2_Missense_Mutation_p.G223A NM_058004 NP_477352 P42356 PI4KA_HUMAN Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA. 137 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GCTGTAACGCCCAAATGCTCG 0.448000 97 61 0 0 0.014410 0 0 ACTR3C 653857 broad.mit.edu 37 7 149990406 149990406 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:149990406G>A uc003wgu.2 - 2 338 c.148C>T c.(148-150)Cca>Tca p.P50S ACTR3C_uc022aps.1_Missense_Mutation_p.P50S NM_001164459 NP_001157931 Q9C0K3 ARP3C_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA. 50 regulation of actin filament polymerization cytoskeleton ATP binding|actin binding CTTACCACTGGGATAACATGG 0.423000 7 5 0 0 0.003080 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107459952 107459952 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:107459952C>T uc002tdq.3 - 1 601 c.482G>A c.(481-483)gGg>gAg p.G161E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G161E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G161E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 161 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CGGAAAAGCCCCCTCCCGTGG 0.647000 79 94 0 0 0.014410 0 0 B4GALNT3 283358 broad.mit.edu 37 12 662562 662562 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:662562C>T uc001qii.1 + 13 1473 c.1473C>T c.(1471-1473)tcC>tcT p.S491S B4GALNT3_uc001qij.1_Silent_p.S394S|B4GALNT3_uc001qik.1_Silent_p.S40S NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 491 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) CCCCCTTCTCCAAGCGGAACT 0.642000 54 38 0 0 0.019004 0 0 RUNX1T1 862 broad.mit.edu 37 8 92988200 92988200 + Splice_Site SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:92988200G>A uc022axs.1 - 10 1644 c.1457_splice c.e10-1 p.D486_splice RUNX1T1_uc003yfc.2_Splice_Site_p.D400_splice|RUNX1T1_uc010mam.3_Splice_Site_p.D400_splice|RUNX1T1_uc003yfe.2_Splice_Site_p.D390_splice|RUNX1T1_uc003yfd.3_Splice_Site_p.D427_splice|RUNX1T1_uc022axo.1_Splice_Site_p.D427_splice|RUNX1T1_uc010mao.3_Splice_Site_p.D400_splice|RUNX1T1_uc011lgi.2_Splice_Site_p.D438_splice|RUNX1T1_uc022axp.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axq.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axr.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axt.1_Splice_Site_p.D427_splice|RUNX1T1_uc022axu.1_Splice_Site_p.D407_splice|RUNX1T1_uc022axv.1_Splice_Site_p.D427_splice|RUNX1T1_uc010man.2_Splice_Site_p.H52_splice|RUNX1T1_uc003yfb.2_Splice_Site_p.D390_splice NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 427 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCCGATGCGCGTCTATGAAAA 0.483000 173 7 0 0 0.003080 0 0 BANK1 55024 broad.mit.edu 37 4 102750985 102750985 + Missense_Mutation SNP A T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:102750985A>T uc003hvy.4 + 1 365 c.91A>T c.(91-93)Atg>Ttg p.M31L BANK1_uc003hvx.4_Missense_Mutation_p.M16L|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Missense_Mutation_p.M1L NM_017935 NP_001077376 Q8NDB2 BANK1_HUMAN Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA. 31 Interaction with ITPR2. B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGATATAATAATGATATATGA 0.294000 14 10 0 0 0.008291 0 0 LRRC52 440699 broad.mit.edu 37 1 165513978 165513978 + Missense_Mutation SNP A C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:165513978A>C uc001gde.2 + 0 501 c.445A>C c.(445-447)Acc>Ccc p.T149P LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 149 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CTTTGCCAACACCACCTCTTT 0.522000 94 83 0 0 0.014410 0 0 OR51L1 119682 broad.mit.edu 37 11 5021013 5021013 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:5021013G>A uc010qyu.2 + 0 801 c.801G>A c.(799-801)ggG>ggA p.G267G NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA. 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCGCTTTGGGAAGCATCTGT 0.463000 39 14 0 0 0.016723 0 0 PMP2 5375 broad.mit.edu 37 8 82356831 82356831 + Silent SNP G A A rs149339630 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:82356831G>A uc003ycb.1 - 2 350 c.252C>T c.(250-252)atC>atT p.I84I PMP2_uc010lzv.1_Non-coding_Transcript NM_002677 NP_002668 P02689 MYP2_HUMAN Homo sapiens peripheral myelin protein 2 (PMP2), mRNA. 84 cytoplasm cholesterol binding|fatty acid binding|transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 Epithelial(68;0.186) GCAGGGTTACGATGCTCTGCA 0.403000 20 34 0 0 0.019004 0 0 ATP13A5 344905 broad.mit.edu 37 3 192992869 192992869 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:192992869C>T uc011bsq.2 - 29 3619 c.3619G>A c.(3619-3621)Ggc>Agc p.G1207S NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 1207 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GTGGGTTGGCCTCCCAATTTG 0.418000 75 68 0 0 0.014410 0 0 UGT3A1 133688 broad.mit.edu 37 5 35954319 35954319 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr5:35954319C>A uc003jjv.2 - 6 1750 c.1557G>T c.(1555-1557)aaG>aaT p.K519N UGT3A1_uc003jjw.2_Non-coding_Transcript NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 519 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTTCTTCACCTTCCTGGCCC 0.597000 3 16 5.01169e-05 8.38692e-05 0.004990 1 0 TMEM108 66000 broad.mit.edu 37 3 133098779 133098779 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:133098779C>T uc003epi.3 + 3 494 c.224C>T c.(223-225)tCa>tTa p.S75L TMEM108_uc003eph.3_Missense_Mutation_p.S75L|TMEM108_uc003epj.1_Missense_Mutation_p.S75L|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 75 Pro-rich. integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GGACCCCCCTCACAGGCTGCA 0.632000 44 46 0 0 0.014410 0 0 NOX4 50507 broad.mit.edu 37 11 89069079 89069079 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:89069079G>A uc001pct.3 - 16 1789 c.1550C>T c.(1549-1551)tCa>tTa p.S517L NOX4_uc009yvr.3_Missense_Mutation_p.S492L|NOX4_uc001pcu.3_Missense_Mutation_p.S443L|NOX4_uc001pcw.3_Missense_Mutation_p.S210L|NOX4_uc001pcx.3_Missense_Mutation_p.S170L|NOX4_uc001pcv.3_Missense_Mutation_p.S477L|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.S330L|NOX4_uc009yvp.3_Missense_Mutation_p.S281L|NOX4_uc010rtv.2_Missense_Mutation_p.S453L|NOX4_uc009yvq.3_Missense_Mutation_p.S493L NM_016931 NP_001137309 Q9NPH5 NOX4_HUMAN Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA. 517 Mediates interaction with TLR4. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2) 44 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AAACAGTCTTGAATTCAGTGC 0.323000 4 30 0 0 0.017118 0 0 LYN 4067 broad.mit.edu 37 8 56863053 56863053 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:56863053C>A uc003xsk.4 + 4 602 c.320C>A c.(319-321)aCa>aAa p.T107K LYN_uc003xsl.4_Missense_Mutation_p.T86K NM_002350 NP_002341 P07948 LYN_HUMAN Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA. 107 SH3. T cell costimulation|erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus Golgi apparatus|cytosol|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) TCCCTTTTAACAAAAAAAGAA 0.378000 107 89 5.29478e-28 9.23771e-28 0.014410 1 0 CES1 1066 broad.mit.edu 37 16 55857517 55857517 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:55857517C>T uc002eim.3 - 3 589 c.481G>A c.(481-483)Gaa>Aaa p.E161K CES1_uc002eil.3_Missense_Mutation_p.E162K|CES1_uc002ein.3_Missense_Mutation_p.E161K NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 161 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) ACCACGTTTTCATGGGCAGCA 0.567000 68 16 0 0 0.007413 0 0 CDH26 60437 broad.mit.edu 37 20 58567484 58567484 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr20:58567484C>T uc002ybe.3 + 9 1646 c.1335C>T c.(1333-1335)tcC>tcT p.S445S CDH26_uc002ybf.1_Silent_p.S25S|CDH26_uc010zzy.2_Non-coding_Transcript NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 445 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S445S(2) breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) ACAAAAACTCCGGAGTGGTCA 0.398000 21 16 0 0 0.006122 0 0 AGAP2 116986 broad.mit.edu 37 12 58121793 58121793 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:58121793C>A uc001spq.3 - 14 2693 c.2693G>T c.(2692-2694)cGg>cTg p.R898L AGAP2_uc001spp.3_Missense_Mutation_p.R897L|AGAP2_uc001spr.3_Missense_Mutation_p.R542L|LOC100130776_uc001sps.4_3'UTR NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA. 898 PH. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1) 48 CCAGGCATCCCGCTCCTCAAA 0.562000 321 8 0.00448238 0.00746305 0.004482 1 0 ADAMDEC1 27299 broad.mit.edu 37 8 24253266 24253266 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:24253266G>A uc003xdz.2 + 4 617 c.397G>A c.(397-399)Gaa>Aaa p.E133K ADAMDEC1_uc010lub.2_Missense_Mutation_p.E54K|ADAMDEC1_uc011lab.1_Missense_Mutation_p.E54K NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 133 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.E133K(1) NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) CATCCTAAATGAAAAGAATTC 0.363000 8 16 0 0 0.008871 0 0 MKL1 57591 broad.mit.edu 37 22 40820310 40820310 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr22:40820310T>C uc003ayv.1 - 4 584 c.377A>G c.(376-378)gAg>gGg p.E126G MKL1_uc010gyf.1_Missense_Mutation_p.E126G|MKL1_uc003ayw.1_Missense_Mutation_p.E126G|MKL1_uc010gye.1_Missense_Mutation_p.E126G NM_020831 NP_065882 Q969V6 MKL1_HUMAN Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA. 126 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGCAGGCTGCTCGGGGGATAA 0.602000 T RBM15 acute megakaryocytic leukemia 74 4 0 0 0.014758 0 0 C12orf5 57103 broad.mit.edu 37 12 4430444 4430444 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:4430444C>T uc001qmp.3 + 0 86 c.7C>T c.(7-9)Cgc>Tgc p.R3C NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA. 3 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GAACATGGCTCGCTTCGCTCT 0.657000 35 42 0 0 0.014410 0 0 TRPM6 140803 broad.mit.edu 37 9 77416982 77416982 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:77416982C>A uc004ajl.1 - 15 2079 c.1841G>T c.(1840-1842)tGg>tTg p.W614L TRPM6_uc004ajk.1_Missense_Mutation_p.W609L|TRPM6_uc022bib.1_Missense_Mutation_p.W609L|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA. 614 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CAGCACAGCCCAAACCAGCAG 0.463000 24 14 3.27435e-08 5.5647e-08 0.020292 1 0 ART4 420 broad.mit.edu 37 12 14994061 14994061 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:14994061G>A uc001rcl.1 - 1 537 c.171C>T c.(169-171)ttC>ttT p.F57F ART4_uc009zid.1_Non-coding_Transcript|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Silent_p.F57F NM_021071 NP_066549 Q93070 NAR4_HUMAN Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA. 57 arginine metabolic process|protein ADP-ribosylation anchored to membrane|plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3) 15 AACCTGGTGCGAAGTCGAAGT 0.373000 48 26 0 0 0.004656 0 0 SCN5A 6331 broad.mit.edu 37 3 38592632 38592632 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:38592632C>T uc021wvo.1 - 26 5283 c.5231G>A c.(5230-5232)aGc>aAc p.S1744N SCN5A_uc021wvk.1_Missense_Mutation_p.S1711N|SCN5A_uc021wvl.1_Missense_Mutation_p.S1690N|SCN5A_uc021wvm.1_Missense_Mutation_p.S1726N|SCN5A_uc021wvn.1_Missense_Mutation_p.S1743N|SCN5A_uc021wvp.1_Missense_Mutation_p.S1744N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.S1556N|SCN5A_uc021wvi.1_Missense_Mutation_p.S1610N NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1744 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.G1743R(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CACGGCTGGGCTCCCGCAGTC 0.607000 32 38 0 0 0.021022 0 0 XIRP2 129446 broad.mit.edu 37 2 167760325 167760325 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:167760325C>T uc002udx.3 + 1 422 c.333C>T c.(331-333)tcC>tcT p.S111S XIRP2_uc010fpn.3_Silent_p.S111S|XIRP2_uc010fpo.3_Silent_p.S111S NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACGCTTTTCCATTGCCCTTG 0.502000 37 46 0 0 0.014410 0 0 HEATR2 54919 broad.mit.edu 37 7 803575 803575 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:803575G>A uc010krz.1 + 7 1767 c.1747G>A c.(1747-1749)Gag>Aag p.E583K HEATR2_uc003siz.2_Missense_Mutation_p.E451K|HEATR2_uc003sja.3_Missense_Mutation_p.E41K NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 583 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) ACACTCGCCGGAGCTCCTGCA 0.667000 66 45 0 0 0.013114 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767673 77767673 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:77767673C>T uc003yau.2 + 9 8903 c.8516C>T c.(8515-8517)cCc>cTc p.P2839L ZFHX4_uc003yaw.1_Missense_Mutation_p.P2794L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2794 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P2839H(2) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCTTTGTCTCCCAAAGAGCCA 0.498000 HNSCC(33;0.089) 29 21 0 0 0.012319 0 0 BMX 660 broad.mit.edu 37 X 15540574 15540574 + Missense_Mutation SNP C G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:15540574C>G uc004cww.3 + 6 804 c.616C>G c.(616-618)Cca>Gca p.P206A BMX_uc004cwx.4_Missense_Mutation_p.P206A|BMX_uc004cwy.4_Missense_Mutation_p.P206A NM_203281 NP_975010 P51813 BMX_HUMAN Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA. 206 cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.Q205K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGGCTCCCAGCCACCATCTTC 0.443000 70 4 0 0 0.009096 0 0 MLL2 8085 broad.mit.edu 37 12 49435296 49435296 + Missense_Mutation SNP T C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:49435296T>C uc001rta.4 - 30 6257 c.6257A>G c.(6256-6258)aAg>aGg p.K2086R NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 2086 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 CTTGGTCTGCTTGTTGATCTG 0.667000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 82 29 0 0 0.009535 0 0 KIAA0226 9711 broad.mit.edu 37 3 197427607 197427607 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:197427607G>A uc003fyc.2 - 6 1321 c.1138C>T c.(1138-1140)Ctg>Ttg p.L380L KIAA0226_uc003fyd.3_Silent_p.L320L|KIAA0226_uc003fye.1_Silent_p.L87L|KIAA0226_uc003fyf.3_Silent_p.L213L|KIAA0226_uc003fyg.3_Silent_p.L373L NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 380 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACACTGGACAGCTGGCTCTCC 0.577000 34 18 0 0 0.008871 0 0 F13A1 2162 broad.mit.edu 37 6 6248600 6248600 + Missense_Mutation SNP A G G TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr6:6248600A>G uc003mwv.3 - 5 866 c.743T>C c.(742-744)aTg>aCg p.M248T F13A1_uc011dib.2_Missense_Mutation_p.M185T NM_000129 NP_000120 P00488 F13A_HUMAN Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA. 248 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) AGAGAGGTCCATTTGTGCTCT 0.438000 32 20 0 0 0.014323 0 0 FSIP2 401024 broad.mit.edu 37 2 186672961 186672961 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:186672961G>A uc002upl.3 + 16 19195 c.19195G>A c.(19195-19197)Gaa>Aaa p.E6399K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATCAAATTCAGAATTAGTTCT 0.318000 37 23 0 0 0.012319 0 0 NDFIP2 54602 broad.mit.edu 37 13 80125153 80125153 + Splice_Site SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr13:80125153C>T uc001vlf.3 + 7 988 c.908_splice c.e7-1 p.G303_splice NDFIP2_uc010tib.2_Splice_Site_p.G283_splice|NDFIP2_uc001vlg.3_Splice_Site NM_019080 NP_061953 Q9NV92 NFIP2_HUMAN Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA. 303 negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm WW domain binding|signal transducer activity NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1) 14 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0196) CCTTCTCAGGCCTGCTCCTTT 0.323000 118 67 0 0 0.014410 0 0 RALGDS 5900 broad.mit.edu 37 9 136029198 136029198 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:136029198G>A uc004ccw.3 - 6 1091 c.810C>T c.(808-810)gcC>gcT p.A270A RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Silent_p.A253A|RALGDS_uc010nac.1_Silent_p.A134A|RALGDS_uc004ccy.1_3'UTR NM_021996 NP_068836 Q12967 GNDS_HUMAN Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA. 0 Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) CATATACCCTGGCCACCTGCC 0.597000 T CIITA """PMBL, Hodgkin Lymphona, """ 55 76 0 0 0.014410 0 0 FANCB 2187 broad.mit.edu 37 X 14883218 14883218 + Missense_Mutation SNP C A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:14883218C>A uc004cwg.1 - 2 683 c.415G>T c.(415-417)Ggc>Tgc p.G139C FANCB_uc004cwh.1_Missense_Mutation_p.G139C NM_001018113 NP_689846 Q8NB91 FANCB_HUMAN Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA. 139 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ATTAAAGGGCCATTAAGGACC 0.353000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 4 35 7.11191e-15 1.21495e-14 0.013726 1 0 NLRP11 204801 broad.mit.edu 37 19 56313004 56313004 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:56313004G>A uc010ygf.2 - 6 2816 c.2105C>T c.(2104-2106)tCc>tTc p.S702F NLRP11_uc002qlz.3_Missense_Mutation_p.S549F|NLRP11_uc002qmb.3_Missense_Mutation_p.S603F|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 702 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CATATTTAGGGAAATGGACGT 0.463000 69 44 0 0 0.010771 0 0 SSX9 280660 broad.mit.edu 37 X 48159108 48159108 + Missense_Mutation SNP G T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrX:48159108G>T uc022bvu.1 - 4 427 c.425C>A c.(424-426)cCg>cAg p.P142Q RecName: Full=Protein SSX9; breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TGGTTTTCCCGGGGGGCACAG 0.488000 6 130 1.28113e-61 2.25919e-61 0.014410 1 0 DSC1 1823 broad.mit.edu 37 18 28714632 28714632 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:28714632C>T uc002kwn.3 - 11 2041 c.1779G>A c.(1777-1779)ctG>ctA p.L593L DSC1_uc002kwm.3_Silent_p.L593L NM_024421 NP_077739 Q08554 DSC1_HUMAN Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA. 593 Cadherin 5. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CTACAGGTTTCAGAACAGCAA 0.378000 20 14 0 0 0.003163 0 0 FLRT2 23768 broad.mit.edu 37 14 86089781 86089781 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:86089781C>T uc021rxf.1 + 0 1923 c.1923C>T c.(1921-1923)atC>atT p.I641I FLRT2_uc001xvr.3_Silent_p.I641I|FLRT2_uc010atd.3_Silent_p.I641I NM_013231 NP_037363 O43155 FLRT2_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA. 641 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) ACTGCCATATCCCCAACAACA 0.493000 191 140 0 0 0.014410 0 0 EPHB3 2049 broad.mit.edu 37 3 184293659 184293659 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr3:184293659C>T uc003foz.3 + 3 1335 c.898C>T c.(898-900)Ccc>Tcc p.P300S NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 300 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) GGGAGAGGGGCCCTGCCTCCC 0.632000 36 40 0 0 0.021022 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427751 27427751 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr2:27427751G>A uc010eyv.1 - 8 1105 c.783C>T c.(781-783)ttC>ttT p.F261F SLC5A6_uc002rjd.3_Silent_p.F261F NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 261 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGACACCCCCGAAGGCCAAGG 0.582000 30 37 0 0 0.006999 0 0 SERPINA13 388007 broad.mit.edu 37 14 95111300 95111300 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:95111300C>T uc001ydt.3 + 3 1120 c.1032C>T c.(1030-1032)ctC>ctT p.L344L Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA. endometrium(1)|large_intestine(1)|lung(9)|skin(1) 12 GCAGAGAACTCGATTTCCACT 0.557000 4 13 0 0 0.003163 0 0 GBA3 57733 broad.mit.edu 37 4 22749054 22749054 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:22749054C>T uc003gqp.4 + 2 513 c.422C>T c.(421-423)tCc>tTc p.S141F GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.S142F NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 141 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCATTGAATCCTTTGACAAA 0.408000 64 51 0 0 0.014410 0 0 KIF13B 23303 broad.mit.edu 37 8 29033614 29033614 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr8:29033614G>A uc003xhh.4 - 9 975 c.916C>T c.(916-918)Cgt>Tgt p.R306C KIF13B_uc003xhj.2_Missense_Mutation_p.R203C|KIF13B_uc010lvf.1_Missense_Mutation_p.R242C NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN Homo sapiens kinesin family member 13B (KIF13B), mRNA. 306 T cell activation|microtubule-based movement|protein targeting|signal transduction cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACTGAGTCACGATATGGAACA 0.433000 2 12 0 0 0.010729 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490296 150490296 + Silent SNP G A A rs148000953 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:150490296G>A uc022apx.1 - 3 606 c.480C>T c.(478-480)atC>atT p.I160I TMEM176B_uc003whu.4_Silent_p.I160I|TMEM176B_uc003whv.4_Silent_p.I123I|TMEM176B_uc003whw.4_Silent_p.I160I NM_014020 NP_054739 Q3YBM2 T176B_HUMAN Homo sapiens transmembrane protein 176B (TMEM176B), transcript variant 1, mRNA. 160 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACACAGTGTCGATGTATAAAA 0.517000 50 35 0 0 0.017118 0 0 PTEN 5728 broad.mit.edu 37 10 89711916 89711916 + Nonsense_Mutation SNP T A A rs104894184 TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr10:89711916T>A uc001kfb.3 + 5 1566 c.534T>A c.(532-534)taT>taA p.Y178* PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 178 Phosphatase tensin-type. T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development PML body|cytosol|internal side of plasma membrane PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178*(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178del(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.Y178fs*5(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGTATTATTATAGCTACCTGT 0.368000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 57 6 0 0 0.001168 0 0 AKAP6 9472 broad.mit.edu 37 14 33015958 33015958 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr14:33015958C>T uc001wrq.3 + 3 2269 c.2099C>T c.(2098-2100)tCa>tTa p.S700L AKAP6_uc010aml.3_Missense_Mutation_p.S697L NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 700 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TCTCCAAGCTCATCTAGTGAC 0.468000 34 28 0 0 0.006320 0 0 CCDC144A 9720 broad.mit.edu 37 17 16665012 16665012 + Missense_Mutation SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr17:16665012G>A uc002gqk.1 + 12 3722 c.3646G>A c.(3646-3648)Gaa>Aaa p.E1216K CCDC144A_uc002gql.1_Missense_Mutation_p.E732K|CCDC144A_uc010cpj.1_Non-coding_Transcript NM_014695 NP_055510 A2RUR9 C144A_HUMAN Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA. 1216 AAAATTAAACGAAGCCATTCT 0.323000 3 17 0 0 0.005443 0 0 C1orf61 10485 broad.mit.edu 37 1 156386582 156386582 + Missense_Mutation SNP A T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:156386582A>T uc001fou.1 - 2 323 c.50T>A c.(49-51)cTt>cAt p.L17H C1orf61_uc001fov.1_Intron|C1orf61_uc001fow.1_Intron|C1orf61_uc001fox.1_Intron|C1orf61_uc001foy.1_Intron NM_006365 NP_006356 Q13536 CROC4_HUMAN Homo sapiens chromosome 1 open reading frame 61 (C1orf61), mRNA. 17 nucleus large_intestine(2)|lung(2)|skin(1) 5 Hepatocellular(266;0.158) AAGCTGGAAAAGGAGGAAGTT 0.463000 82 61 0 0 0.014410 0 0 NOBOX 135935 broad.mit.edu 37 7 144097383 144097383 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr7:144097383C>T uc022aoj.1 - 4 867 c.867G>A c.(865-867)aaG>aaA p.K289K NM_001080413 NP_001073882 O60393 NOBOX_HUMAN Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA. 289 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CTTGGAATATCTTCTCTAGCT 0.522000 47 31 0 0 0.012213 0 0 RHOV 171177 broad.mit.edu 37 15 41165519 41165519 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:41165519C>T uc001znd.3 - 2 598 c.448G>A c.(448-450)Gat>Aat p.D150N NM_133639 NP_598378 Q96L33 RHOV_HUMAN Homo sapiens ras homolog gene family, member V (RHOV), mRNA. 150 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome membrane|plasma membrane GTP binding|metal ion binding central_nervous_system(1)|large_intestine(1) 2 all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163) ACGTTGACATCGTCCCTCAGG 0.642000 47 60 0 0 0.014410 0 0 SNTB2 6645 broad.mit.edu 37 16 69294068 69294068 + Missense_Mutation SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr16:69294068C>T uc002ewu.3 + 2 930 c.910C>T c.(910-912)Cca>Tca p.P304S SNTB2_uc021tkg.1_Intron NM_006750 NP_006741 Q13425 SNTB2_HUMAN Homo sapiens syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2) (SNTB2), mRNA. 304 cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane actin binding|calmodulin binding|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 13 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.208) GGCTCTCCTCCCACAGGTGTT 0.527000 56 40 0 0 0.006230 0 0 ROR2 4920 broad.mit.edu 37 9 94493274 94493274 + Silent SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr9:94493274G>A uc004arj.2 - 6 1300 c.1101C>T c.(1099-1101)aaC>aaT p.N367N ROR2_uc004ari.1_Silent_p.N227N|ROR2_uc004ark.3_Silent_p.N367N NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 367 Kringle. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GGCCTCCGGGGTTCCGGCAGT 0.612000 27 18 0 0 0.007413 0 0 ASTN1 460 broad.mit.edu 37 1 176915229 176915229 + Silent SNP C T T TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr1:176915229C>T uc001glc.3 - 12 2294 c.2082G>A c.(2080-2082)gtG>gtA p.V694V ASTN1_uc001glb.1_Silent_p.V694V|ASTN1_uc001gld.1_Silent_p.V694V|ASTN1_uc009wwx.1_Silent_p.V694V NM_004319 NP_004310 O14525 ASTN1_HUMAN Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA. 702 EGF-like 3. 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 AGCGTCCATCCACACCAAGCT 0.517000 10 38 0 0 0.008740 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107039 107039 + RNA SNP G A A TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chrGL000211.1:107039G>A uc003boa.3 + 3 c.738G>A Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. CTGTGACAAAGAAAATAGAAC 0.373000 224 32 0 0 0.021022 0 0 ZNF714 148206 broad.mit.edu 37 19 21300715 21300715 + Missense_Mutation SNP G C C TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:21300715G>C uc002npo.4 + 4 1623 c.1245G>C c.(1243-1245)aaG>aaC p.K415N ZNF714_uc002npl.3_Missense_Mutation_p.K261N|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 416 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CCAAACATAAGATAATTCATA 0.348000 13 22 0 0 0.012319 0 0 ALPK2 115701 broad.mit.edu 37 18 56204943 56204943 + Missense_Mutation SNP G A A rs139158112 byFrequency TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr18:56204943G>A uc002lhj.4 - 4 2690 c.2476C>T c.(2476-2478)Cca>Tca p.P826S ALPK2_uc002lhk.1_Missense_Mutation_p.P157S NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 826 ATP binding|protein serine/threonine kinase activity p.P192T(1)|p.P826T(1) NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TTATCAACTGGTCTCCCAACA 0.418000 24 8 0 0 0.006122 0 0 ANAPC4 29945 broad.mit.edu 37 4 25379058 25379058 + Frame_Shift_Del DEL T - - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr4:25379058delT uc003gro.3 + 1 138 c.9delT c.(7-9)cgtfs p.R3fs NM_013367 NP_037499 Q9UJX5 APC4_HUMAN Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA. 3 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) CCATGTTGCGTTTTCCGACCT 0.632 --- 36 --- --- 16 --- SF1 7536 broad.mit.edu 37 11 64533440 64533448 + In_Frame_Del DEL AGGCGGTGG - - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr11:64533440_64533448delAGGCGGTGG uc001obb.2 - 12 2214_2222 c.1762_1770delCCACCGCCT c.(1762-1770)ccaccgcctdel p.PPP588del SF1_uc010rnm.2_Intron|SF1_uc010rnn.2_In_Frame_Del_p.PPP562del|SF1_uc001oaz.2_Intron|SF1_uc001oba.2_In_Frame_Del_p.PPP588del|SF1_uc001obd.2_Intron|SF1_uc001obc.2_Intron|SF1_uc001obe.2_Intron|SF1_uc010rno.2_Intron|SF1_uc021qky.1_5'Flank NM_004630 NP_001171502 Q15637 SF01_HUMAN Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA. 588 Pro-rich. nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent ribosome|spliceosomal complex RNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2) 31 CGGCGGAACCAGGCGGTGGAGGCGGCGGA 0.703 --- 0 --- --- 7 --- MYO1A 4640 broad.mit.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T - - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr12:57422573delT uc001smw.4 - 27 3338 c.3098delA c.(3097-3099)aagfs p.K1033fs MYO1A_uc010sqz.2_Frame_Shift_Del_p.K871fs|MYO1A_uc009zpd.3_Frame_Shift_Del_p.K1033fs NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA. 1033 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex ATP binding|actin binding|calmodulin binding|motor activity p.?(1) breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 ATGACTCCCCTTTTTTTTGTA 0.557 --- 363 --- --- 8 --- GABRB3 2562 broad.mit.edu 37 15 26866484 26866485 + Frame_Shift_Ins INS - TC TC TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:26866484_26866485insTC uc001zbb.3 - 4 708_709 c.605_606insGA c.(604-606)gatfs p.D202fs GABRB3_uc021sgg.1_Frame_Shift_Ins_p.D75fs|GABRB3_uc021sgh.1_Frame_Shift_Ins_p.D61fs|GABRB3_uc001zaz.3_Frame_Shift_Ins_p.D146fs|GABRB3_uc001zba.3_Frame_Shift_Ins_p.D146fs|GABRB3_uc001zbc.3_Non-coding_Transcript NM_001191320 NP_001178249 P28472 GBRB3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA. 146 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCACTGTCCCATCAGGGTGAAG 0.460 --- 91 --- --- 46 --- DIS3L 115752 broad.mit.edu 37 15 66610870 66610870 + Frame_Shift_Del DEL A - - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr15:66610870delA uc010ujm.2 + 7 1093 c.1078delA c.(1078-1080)aaafs p.K360fs DIS3L_uc010ujl.1_Intron|DIS3L_uc002app.3_Frame_Shift_Del_p.K277fs|DIS3L_uc002apq.2_Frame_Shift_Del_p.K360fs|DIS3L_uc010bho.3_Frame_Shift_Del_p.K226fs NM_001143688 NP_588616 Q8TF46 DI3L1_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like (DIS3L), transcript variant 1, mRNA. 360 rRNA catabolic process cytoplasm|exosome (RNase complex) RNA binding|exonuclease activity|protein binding|ribonuclease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ATCTCAGGGCAAAAATGCTCA 0.453 --- 72 --- --- 60 --- PRR12 57479 broad.mit.edu 37 19 50099739 50099739 + Frame_Shift_Del DEL C - - TCGA-ER-A2NE-06A-21D-A196-08 TCGA-ER-A2NE-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx ccd02c28-32da-429b-8f82-8c5f210f94fe a44453e0-abf7-4d0a-a87c-08baba5ac015 g.chr19:50099739delC uc002poo.4 + 3 2147 c.2147delC c.(2146-2148)gcgfs p.A716fs NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 439 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GGTGCCACTGCGGCACTGGAG 0.652 --- 8 --- --- 11 ---