Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SLC51A 200931 broad.mit.edu 37 3 195955067 195955067 + Silent SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:195955067G>T ENST00000296327.5 + 5 653 c.444G>T c.(442-444)ctG>ctT p.L148L NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit TGAGGACGCTGAGGGACACCC 0.627000 6 206 0.217242 0.217595 1 1 0 DDX39B 7919 broad.mit.edu 37 6 31508228 31508228 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31508228C>A ENST00000417556.2 - 2 712 c.82G>T c.(82-84)Gag>Tag p.E28* DDX39B_ENST00000415382.2_Silent_p.L23L|DDX39B_ENST00000396172.1_Nonsense_Mutation_p.E28*|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000453105.2_Silent_p.L23L|DDX39B_ENST00000449074.2_Nonsense_Mutation_p.E28*|DDX39B_ENST00000458640.1_Nonsense_Mutation_p.E28* Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 28 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 GCAGGGGCCTCAGCCCCATCT 0.567000 31 93 1.36615e-20 1.48683e-20 1 1 0 RAD52 5893 broad.mit.edu 37 12 1025635 1025635 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:1025635G>C ENST00000358495.3 - 9 878 c.740C>G c.(739-741)tCc>tGc p.S247C RAD52_ENST00000536177.1_Missense_Mutation_p.I264M|RAD52_ENST00000430095.2_Missense_Mutation_p.S247C|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000539046.1_Missense_Mutation_p.S170C NM_134424.2 NP_602296.2 P43351 RAD52_HUMAN RAD52 homolog (S. cerevisiae) 247 DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323) CTCCACGGCGGATGAGCTCAG 0.682000 Homologous recombination 11 18 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38693803 38693803 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:38693803G>C ENST00000379931.3 + 8 2252 c.1873G>C c.(1873-1875)Gag>Cag p.E625Q TACC1_ENST00000520973.1_Missense_Mutation_p.E389Q|TACC1_ENST00000518415.1_Missense_Mutation_p.E539Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E418Q|TACC1_ENST00000348567.4_Missense_Mutation_p.E175Q|TACC1_ENST00000276520.8_Missense_Mutation_p.E203Q|TACC1_ENST00000519416.1_Missense_Mutation_p.E417Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E613Q|TACC1_ENST00000330691.6_Missense_Mutation_p.E187Q|TACC1_ENST00000520611.1_Missense_Mutation_p.E51Q|TACC1_ENST00000520340.1_Missense_Mutation_p.E548Q|TACC1_ENST00000522752.1_3'UTR|TACC1_ENST00000443286.2_Missense_Mutation_p.E600Q O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 613 cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) AATAAGAGAAGAGGTAAAAGC 0.507000 29 56 0 0 1 0 0 PHF23 79142 broad.mit.edu 37 17 7139465 7139465 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:7139465C>G ENST00000320316.3 - 4 1007 c.781G>C c.(781-783)Gag>Cag p.E261Q PHF23_ENST00000571362.1_Missense_Mutation_p.E194Q|PHF23_ENST00000576955.1_Missense_Mutation_p.E131Q|PHF23_ENST00000454255.2_Missense_Mutation_p.E257Q NM_024297.2 NP_077273.2 Q9BUL5 PHF23_HUMAN PHD finger protein 23 261 Poly-Glu. zinc ion binding breast(4)|kidney(2)|large_intestine(6)|lung(3) 15 GTTGCCATCtcttcttcttct 0.622000 33 102 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617171 145617171 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:145617171G>A ENST00000308860.6 + 10 1089 c.1045G>A c.(1045-1047)Gag>Aag p.E349K NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 349 Protein kinase. integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GGCCTTTGCTGAGCAGATATT 0.632000 43 76 0 0 1 0 0 WSCD1 23302 broad.mit.edu 37 17 6021411 6021411 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:6021411G>A ENST00000574946.1 + 8 1668 c.1278G>A c.(1276-1278)ctG>ctA p.L426L WSCD1_ENST00000539421.1_Silent_p.L426L|WSCD1_ENST00000574232.1_Silent_p.L426L|WSCD1_ENST00000573634.1_Silent_p.L310L|WSCD1_ENST00000317744.5_Silent_p.L426L Q658N2 WSCD1_HUMAN WSC domain containing 1 426 integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CAGCCATCCTGCTAATCCGGA 0.542000 16 46 0 0 1 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255015 15255015 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:15255015C>G ENST00000378116.4 - 8 2578 c.2572G>C c.(2572-2574)Gag>Cag p.E858Q NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 858 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TCCTCTTCCTCGTGGGCAGAT 0.592000 58 158 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48562221 48562221 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:48562221G>A ENST00000258955.2 + 9 1413 c.1328G>A c.(1327-1329)tGa>tAa p.*443* NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 0 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CCAGGAGGATGACAAAAATGT 0.582000 10 16 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36291094 36291094 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:36291094G>A ENST00000437635.2 - 8 1624 c.1447C>T c.(1447-1449)Cgg>Tgg p.R483W NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 483 p.R483W(1) breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 GTGGAGGGCCGATGGCCACCA 0.647000 38 93 0 0 1 0 0 FAM155A 728215 broad.mit.edu 37 13 108518372 108518372 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:108518372G>A ENST00000375915.2 - 1 711 c.573C>T c.(571-573)tgC>tgT p.C191C NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 191 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 AGTTCCTGGCGCACACCGCGT 0.647000 4 168 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52130854 52130854 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:52130854G>C ENST00000222107.4 - 6 1281 c.1143C>G c.(1141-1143)ttC>ttG p.F381L SIGLEC5_ENST00000429354.3_Missense_Mutation_p.F381L|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.F381L|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.F381L|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.F381L O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 381 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) AGTTGACCTTGAATGAGCCCT 0.652000 15 41 0 0 1 0 0 EFCC1 79825 broad.mit.edu 37 3 128755945 128755945 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:128755945G>A ENST00000436022.2 + 6 1575 c.264G>A c.(262-264)caG>caA p.Q88Q EFCC1_ENST00000480450.1_Silent_p.Q525Q NM_024768.2 NP_079044.2 EF-hand and coiled-coil domain containing 1 AGCTCCTGCAGAGGCTCCGGG 0.632000 4 14 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35066071 35066071 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:35066071G>C ENST00000382002.5 - 10 1415 c.989C>G c.(988-990)tCa>tGa p.S330* PRLR_ENST00000342362.5_Nonsense_Mutation_p.S229*|PRLR_ENST00000231423.3_Nonsense_Mutation_p.S330*|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000511486.1_Nonsense_Mutation_p.S229*|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000310101.5_Nonsense_Mutation_p.S330* NM_000949.5 NP_000940.1 P16471 PRLR_HUMAN prolactin receptor 330 activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTGTTCTTTTGAATGGACTGA 0.483000 11 49 0 0 1 0 0 MICAL3 57553 broad.mit.edu 37 22 18364025 18364025 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:18364025G>A ENST00000429452.1 - 17 2638 c.2286C>T c.(2284-2286)atC>atT p.I762I MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000441493.2_Intron NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1249 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GAGACAGGGTGATCACTTTTT 0.547000 30 109 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68506923 68506923 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:68506923C>G ENST00000322244.4 - 18 1559 c.1500G>C c.(1498-1500)ttG>ttC p.L500F NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 500 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 ATTTCTCTATCAAGTCAGGAT 0.284000 52 129 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154795 22154795 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:22154795G>A ENST00000397126.4 - 4 3189 c.3041C>T c.(3040-3042)tCa>tTa p.S1014L ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATAAGGTTTGATGACCAGTT 0.398000 35 76 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56586482 56586482 + Silent SNP C C T rs149812809 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:56586482C>T ENST00000336078.4 + 4 1739 c.963C>T c.(961-963)atC>atT p.I321I ZNF532_ENST00000591083.1_Silent_p.I321I|ZNF532_ENST00000591808.1_Silent_p.I321I|ZNF532_ENST00000591230.1_Silent_p.I321I|ZNF532_ENST00000589288.1_Silent_p.I321I NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I321I(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 AGAATCTCATCGACGGGACCA 0.527000 45 151 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104033919 104033919 + Nonsense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:104033919G>T ENST00000388887.2 + 9 1129 c.925G>T c.(925-927)Gag>Tag p.E309* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 309 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CGAGTGTAAGGAGCATTACCA 0.403000 24 86 9.95505e-16 1.06464e-15 1 1 0 NRK 203447 broad.mit.edu 37 X 105153231 105153231 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:105153231G>A ENST00000428173.2 + 13 1904 c.1601G>A c.(1600-1602)gGc>gAc p.G534D NRK_ENST00000243300.9_Missense_Mutation_p.G533D Q7Z2Y5 NRK_HUMAN Nik related kinase 533 Gln-rich. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CAAAGGCAGGGCCAGGCCCCT 0.562000 HNSCC(51;0.14) 15 32 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93712233 93712233 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:93712233C>T ENST00000334746.5 - 10 2828 c.2521G>A c.(2521-2523)Gct>Act p.A841T BTBD7_ENST00000554565.1_Missense_Mutation_p.A490T|BTBD7_ENST00000393170.2_Missense_Mutation_p.A415T NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 841 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) GTGGCGGCAGCAGCAGCCACC 0.557000 13 39 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36462396 36462396 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:36462396C>G ENST00000265748.2 + 14 2675 c.2454C>G c.(2452-2454)gtC>gtG p.V818V ANLN_ENST00000396068.2_Silent_p.V781V NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 818 Localization to the cleavage furrow. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGATTTTGTCTGCAGTACGG 0.388000 36 105 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50556995 50556995 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:50556995G>T ENST00000376020.2 - 1 49 c.24C>A c.(22-24)ttC>ttA p.F8L SHROOM4_ENST00000289292.7_Missense_Mutation_p.F8L NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 8 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) GGACGTACTGGAAGGACCCAG 0.662000 10 27 3.07112e-06 3.13733e-06 1 1 0 ENO3 2027 broad.mit.edu 37 17 4859947 4859947 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:4859947G>A ENST00000323997.6 + 10 1279 c.1147G>A c.(1147-1149)Gac>Aac p.D383N ENO3_ENST00000518175.1_Missense_Mutation_p.D383N|ENO3_ENST00000519584.1_Missense_Mutation_p.D340N NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 383 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 ATTCATTGCTGACCTTGTGGT 0.552000 OREG0024110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 105 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3983259 3983259 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:3983259C>T ENST00000309311.6 - 3 337 c.249G>A c.(247-249)gaG>gaA p.E83E EEF2_ENST00000600720.1_5'UTR NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 83 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) TCAAGTCATTCTCCGAGAGCT 0.592000 11 29 0 0 1 0 0 TRIAP1 51499 broad.mit.edu 37 12 120882728 120882728 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:120882728C>T ENST00000546954.1 - 2 217 c.178G>A c.(178-180)Gaa>Aaa p.E60K AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR NM_016399.2 NP_057483.1 O43715 TRIA1_HUMAN TP53 regulated inhibitor of apoptosis 1 60 anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest mitochondrion|perinuclear region of cytoplasm caspase inhibitor activity|protein binding all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCCAGTCCTTCAATAGGAATC 0.388000 55 130 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58324919 58324919 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:58324919G>A ENST00000219301.4 - 4 601 c.207C>T c.(205-207)ttC>ttT p.F69F PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GGATGCAGCCGAAAGCCAGGT 0.627000 23 60 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309866 22309866 + RNA SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:22309866G>A ENST00000390433.1 + 0 250 AAGGTTTACAGCACAGCTCAA 0.473000 4 189 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53572036 53572036 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:53572036C>T ENST00000342160.3 - 70 11459 c.11002G>A c.(11002-11004)Gag>Aag p.E3668K HUWE1_ENST00000262854.6_Missense_Mutation_p.E3668K|HUWE1_ENST00000474288.1_5'UTR Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 3668 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GGCTGCTCCTCAGGCAGGCCA 0.597000 12 16 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274484 51274484 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:51274484C>A ENST00000270590.4 + 1 764 c.627C>A c.(625-627)gtC>gtA p.V209V NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 209 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TTGAAGGGGTCGTGGAGGGAC 0.547000 6 49 3.59834e-05 3.65771e-05 1 1 0 NUCKS1 64710 broad.mit.edu 37 1 205689659 205689659 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:205689659C>G ENST00000367142.4 - 5 654 c.352G>C c.(352-354)Gaa>Caa p.E118Q NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 118 nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCTCCTCTTCTTGTTCTTCC 0.443000 34 79 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134006208 134006208 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:134006208G>A ENST00000338492.4 + 3 339 c.175G>A c.(175-177)Gac>Aac p.D59N DPYSL4_ENST00000493882.1_3'UTR|DPYSL4_ENST00000368629.1_5'UTR NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 59 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CAAGACCATTGACGCCCACGG 0.577000 19 52 0 0 1 0 0 SULF1 23213 broad.mit.edu 37 8 70533395 70533395 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:70533395C>A ENST00000260128.4 + 14 2220 c.1503C>A c.(1501-1503)gaC>gaA p.D501E SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.D501E|SULF1_ENST00000402687.4_Missense_Mutation_p.D501E|SULF1_ENST00000458141.2_Missense_Mutation_p.D501E NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 501 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) ATGACAAAGACAAAGAGTGCA 0.532000 13 49 1.61879e-10 1.69877e-10 1 1 0 RAB18 22931 broad.mit.edu 37 10 27826858 27826858 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:27826858G>A ENST00000356940.6 + 7 601 c.499G>A c.(499-501)Gaa>Aaa p.E167K RAB18_ENST00000535776.1_Missense_Mutation_p.E103K|RAB18_ENST00000375802.3_Missense_Mutation_p.E122K|RAB18_ENST00000465772.1_3'UTR NM_001256410.1|NM_001256415.1|NM_021252.4 NP_001243339.1|NP_001243344.1|NP_067075.1 Q9NP72 RAB18_HUMAN RAB18, member RAS oncogene family 167 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding kidney(1)|large_intestine(1)|lung(1) 3 AGAACTTGTTGAAAAGATCAT 0.448000 15 55 0 0 1 0 0 NOVA1 4857 broad.mit.edu 37 14 26917690 26917690 + Silent SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:26917690A>G ENST00000539517.2 - 5 1316 c.999T>C c.(997-999)ggT>ggC p.G333G NOVA1_ENST00000465357.2_Silent_p.G309G|NOVA1_ENST00000267422.7_Silent_p.G211G NM_002515.2 NP_002506.2 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 336 Ala-rich. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(265;0.0135) TGAGACCTAAACCTAAAGTGT 0.502000 10 31 0 0 1 0 0 MYH7B 57644 broad.mit.edu 37 20 33587632 33587632 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:33587632C>G ENST00000262873.7 + 36 4922 c.4830C>G c.(4828-4830)atC>atG p.I1610M NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1568 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CGCTGCGGATCCAGCTGGAGC 0.637000 16 44 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961650 85961650 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:85961650C>T ENST00000383699.3 + 6 1284 c.657C>T c.(655-657)ctC>ctT p.L219L CADM2_ENST00000405615.2_Silent_p.L212L|CADM2_ENST00000407528.2_Silent_p.L210L NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 210 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) ACGAATCCCTCAATGCCACCC 0.498000 10 30 0 0 1 0 0 SAFB 6294 broad.mit.edu 37 19 5668195 5668195 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:5668195G>A ENST00000292123.5 + 21 2748 c.2641G>A c.(2641-2643)Ggg>Agg p.G881R SAFB_ENST00000592224.1_Missense_Mutation_p.G882R|SAFB_ENST00000538656.1_Missense_Mutation_p.G725R|SAFB_ENST00000454510.1_Missense_Mutation_p.G814R|SAFB_ENST00000433404.1_Missense_Mutation_p.G713R|SAFB_ENST00000588852.1_Missense_Mutation_p.G883R NM_001201338.1|NM_001201339.1|NM_002967.3 NP_001188267.1|NP_001188268.1|NP_002958.2 Q15424 SAFB1_HUMAN scaffold attachment factor B 881 Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TGCCCCAGGCGGGGCCTCCCG 0.682000 4 138 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76091050 76091050 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:76091050C>T ENST00000238667.4 + 3 1263 c.907C>T c.(907-909)Cgg>Tgg p.R303W FLVCR2_ENST00000553587.1_Missense_Mutation_p.R51W|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Missense_Mutation_p.R98W|FLVCR2_ENST00000556856.1_Missense_Mutation_p.R51W NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 303 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TTCCATCGCCCGGCTCTTCAA 0.478000 4 91 0 0 1 0 0 N4BP3 23138 broad.mit.edu 37 5 177546744 177546744 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:177546744G>C ENST00000274605.5 + 2 519 c.160G>C c.(160-162)Gag>Cag p.E54Q NM_015111.1 NP_055926.1 O15049 N4BP3_HUMAN NEDD4 binding protein 3 54 cytoplasmic vesicle membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGGCCAGCGTGAGTTCCTCAG 0.657000 40 105 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38197201 38197201 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:38197201G>A ENST00000373048.4 - 7 1544 c.1545C>T c.(1543-1545)acC>acT p.T515T EPHA10_ENST00000427468.2_Silent_p.T515T|EPHA10_ENST00000330210.7_Silent_p.T10T|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.T10T NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 515 Fibronectin type-III 2. 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) GGTTGGTGACGGTGACTGTGG 0.597000 4 213 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110279755 110279755 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:110279755G>T ENST00000540225.1 - 9 926 c.616C>A c.(616-618)Cag>Aag p.Q206K GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.Q206K|GSTM3_ENST00000361066.2_Missense_Mutation_p.Q206K|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 206 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) TTGCAGAACTGATCAGACTGT 0.473000 8 50 0.307466 0.307466 1 1 0 TAS2R16 50833 broad.mit.edu 37 7 122634944 122634944 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:122634944C>G ENST00000249284.2 - 1 810 c.745G>C c.(745-747)Ggt>Cgt p.G249R NM_016945.2 NP_058641.1 Q9NYV7 T2R16_HUMAN taste receptor, type 2, member 16 249 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AATAGAGTACCTATAATGGTG 0.428000 38 121 0 0 1 0 0 HNF1B 6928 broad.mit.edu 37 17 36099454 36099454 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:36099454C>T ENST00000225893.4 - 2 882 c.521G>A c.(520-522)aGa>aAa p.R174K HNF1B_ENST00000427275.2_Missense_Mutation_p.R174K|HNF1B_ENST00000560016.1_Missense_Mutation_p.R174K|HNF1B_ENST00000561193.1_Missense_Mutation_p.R174K NM_000458.2|NM_001165923.1 NP_000449.1|NP_001159395.1 P35680 HNF1B_HUMAN HNF1 homeobox B 174 endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size nucleus DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2) 28 Breast(25;0.00765)|Ovarian(249;0.15) STAD - Stomach adenocarcinoma(1;0.0142) TCGTTGCTTTCTGACGTACCA 0.562000 9 91 0 0 1 0 0 APTX 54840 broad.mit.edu 37 9 32987599 32987599 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:32987599G>C ENST00000379817.2 - 3 622 c.426C>G c.(424-426)agC>agG p.S142R APTX_ENST00000379825.2_Missense_Mutation_p.S156R|APTX_ENST00000379813.3_Missense_Mutation_p.S142R|APTX_ENST00000397172.3_Intron|APTX_ENST00000476858.1_Missense_Mutation_p.S102R|APTX_ENST00000309615.3_Missense_Mutation_p.S156R|APTX_ENST00000468275.1_Missense_Mutation_p.S142R|APTX_ENST00000463596.1_Missense_Mutation_p.S142R|APTX_ENST00000379819.1_Missense_Mutation_p.S156R|APTX_ENST00000436040.2_Missense_Mutation_p.S142R Q7Z2E3 APTX_HUMAN aprataxin 156 cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair chromatin|nucleolus|nucleoplasm chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding endometrium(1)|lung(1)|ovary(2)|prostate(2) 6 LUSC - Lung squamous cell carcinoma(29;0.0302) GBM - Glioblastoma multiforme(74;0.105) GGCCAGAGTTGCTCCCAGGTT 0.483000 Editing and processing nucleases 28 95 0 0 1 0 0 USP45 85015 broad.mit.edu 37 6 99894132 99894132 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:99894132C>T ENST00000327681.6 - 14 2048 c.1516G>A c.(1516-1518)Gag>Aag p.E506K USP45_ENST00000500704.2_Missense_Mutation_p.E506K|USP45_ENST00000369233.2_Missense_Mutation_p.E458K|USP45_ENST00000392738.2_Missense_Mutation_p.E186K|USP45_ENST00000539675.1_Intron NM_001080481.1 NP_001073950.1 Q70EL2 UBP45_HUMAN ubiquitin specific peptidase 45 506 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) TCTGAAGGCTCACTGTCAGCA 0.493000 15 43 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111155623 111155623 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:111155623G>C ENST00000360467.5 + 42 4339 c.4033G>C c.(4033-4035)Gaa>Caa p.E1345Q COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1345 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCTCCCAGGAGAAAAAGGTAA 0.627000 13 31 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258304 56258304 + Silent SNP T T A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:56258304T>A ENST00000327216.2 - 1 567 c.543A>T c.(541-543)ccA>ccT p.P181P NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) TAATCAGTGGTGGGTCCGCAC 0.463000 35 100 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121383839 121383839 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:121383839G>A ENST00000393667.3 - 21 9719 c.9609C>T c.(9607-9609)atC>atT p.I3203I GOLGB1_ENST00000340645.5_Silent_p.I3193I NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 3193 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGGAGCCAATGATAGGAGTCC 0.468000 13 43 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111621277 111621277 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:111621277C>T ENST00000435970.1 - 34 9917 c.9101G>A c.(9100-9102)cGa>cAa p.R3034Q REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000368802.3_Missense_Mutation_p.R3112Q|REV3L_ENST00000368805.1_Missense_Mutation_p.R3112Q|REV3L_ENST00000358835.3_Missense_Mutation_p.R3112Q O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 3112 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCTATTTACTCGGGAGAGTTT 0.388000 DNA polymerases (catalytic subunits) 29 77 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6863601 6863601 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:6863601C>G ENST00000307659.5 + 7 1947 c.1492C>G c.(1492-1494)Ctg>Gtg p.L498V KIAA0232_ENST00000425103.1_Missense_Mutation_p.L498V NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 498 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 CAATAAATACCTGGATGATAT 0.383000 12 54 0 0 1 0 0 CNP 1267 broad.mit.edu 37 17 40124023 40124023 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:40124023G>A ENST00000393892.2 + 3 934 c.790G>A c.(790-792)Ggg>Agg p.G264R CNP_ENST00000472031.1_Silent_p.P39P|CNP_ENST00000393888.1_Missense_Mutation_p.G244R|CNP_ENST00000591072.1_Missense_Mutation_p.G29R NM_033133.4 NP_149124.3 P09543 CN37_HUMAN 2',3'-cyclic nucleotide 3' phosphodiesterase 264 cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission extracellular space|melanosome 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 9 all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143) UCEC - Uterine corpus endometrioid carcinoma (308;0.171) GAAGGCTCCCGGGGCAGAGGA 0.567000 3 47 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57432611 57432611 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:57432611G>C ENST00000442789.2 - 17 1802 c.1515C>G c.(1513-1515)atC>atG p.I505M MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.I505M|MYO1A_ENST00000544473.1_Missense_Mutation_p.I343M NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 505 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 CATAGTGGCAGATGCGGAAGC 0.587000 11 54 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240072045 240072045 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:240072045G>C ENST00000255380.4 + 5 2073 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 432 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CATCCAGCTAGAGTCAGCCGT 0.552000 8 23 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131012732 131012732 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:131012732C>G ENST00000352689.6 + 1 114 c.74C>G c.(73-75)tCc>tGc p.S25C MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 25 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) AAGTGGAGCTCCTTTTCCTCC 0.677000 4 31 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202131281 202131281 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:202131281C>G ENST00000358485.4 + 2 445 c.249C>G c.(247-249)ttC>ttG p.F83L CASP8_ENST00000323492.7_Missense_Mutation_p.F24L|CASP8_ENST00000264274.9_Missense_Mutation_p.F24L|CASP8_ENST00000264275.5_Missense_Mutation_p.F24L|CASP8_ENST00000432109.2_Missense_Mutation_p.F24L|CASP8_ENST00000392259.2_Missense_Mutation_p.F24L|CASP8_ENST00000392258.3_Missense_Mutation_p.F24L|CASP8_ENST00000392266.3_Missense_Mutation_p.F24L NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 24 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CCCTCAAGTTCCTGAGCCTGG 0.433000 HNSCC(4;0.00038) 15 38 0 0 1 0 0 PLXNB3 5365 broad.mit.edu 37 X 153032532 153032532 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:153032532G>C ENST00000538966.1 + 4 590 c.319G>C c.(319-321)Gag>Cag p.E107Q PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.E84Q|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538776.1_Intron NM_001163257.1 NP_001156729.1 Q9ULL4 PLXB3_HUMAN plexin B3 84 Sema. axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GCTGCAGCTCGAGGCCGTGGC 0.627000 14 28 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43510760 43510760 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:43510760G>A ENST00000282041.5 - 12 2328 c.2294C>T c.(2293-2295)tCt>tTt p.S765F NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 765 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATTCATAGAAGAAAGACACTT 0.358000 13 30 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101068556 101068556 + Silent SNP G G A rs141903124 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:101068556G>A ENST00000259455.2 - 15 2535 c.2076C>T c.(2074-2076)atC>atT p.I692I NM_005458.7 NP_005449.5 O75899 GABR2_HUMAN gamma-aminobutyric acid (GABA) B receptor, 2 692 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) CACTCATCCCGATGTACTTGC 0.552000 13 35 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85987841 85987841 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:85987841G>A ENST00000304195.3 - 3 488 c.282C>T c.(280-282)ttC>ttT p.F94F FRMD3_ENST00000376438.1_Silent_p.F94F NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 94 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 TCATTTGCTTGAAGATGGACT 0.403000 24 99 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18549116 18549116 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:18549116C>G ENST00000399799.1 - 24 3814 c.2874G>C c.(2872-2874)gaG>gaC p.E958D NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 958 Glu-rich. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) GCTCTTCATTCTCTCTTCTTA 0.323000 7 33 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152394687 152394687 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:152394687G>C ENST00000427231.2 - 139 21166 c.20964C>G c.(20962-20964)gtC>gtG p.V6988V NEB_ENST00000603639.1_Silent_p.V6988V|NEB_ENST00000397345.3_Silent_p.V6988V|NEB_ENST00000172853.10_Silent_p.V5287V|NEB_ENST00000409198.1_Silent_p.V5287V|NEB_ENST00000604864.1_Silent_p.V6988V NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5287 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCGATGATAGACAATGTCTA 0.353000 30 100 0 0 1 0 0 FZD5 7855 broad.mit.edu 37 2 208633089 208633089 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:208633089G>A ENST00000295417.3 - 2 928 c.375C>T c.(373-375)ttC>ttT p.F125F NM_003468.3 NP_003459.2 Q13467 FZD5_HUMAN frizzled family receptor 5 125 FZ. angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134) CGGGCCAGGCGAAGCCGTACT 0.721000 3 15 0 0 1 0 0 HECTD2 143279 broad.mit.edu 37 10 93221090 93221090 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:93221090C>T ENST00000446394.1 + 4 587 c.487C>T c.(487-489)Cca>Tca p.P163S HECTD2_ENST00000371681.4_Missense_Mutation_p.P163S|HECTD2_ENST00000298068.5_Missense_Mutation_p.P163S Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 163 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 TGATTCTTTCCCAGAATTAAA 0.269000 20 80 0 0 1 0 0 MEX3B 84206 broad.mit.edu 37 15 82337813 82337813 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:82337813G>A ENST00000558133.1 - 1 647 c.234C>T c.(232-234)gtC>gtT p.V78V MEX3B_ENST00000329713.4_Silent_p.V78V Q6ZN04 MEX3B_HUMAN mex-3 RNA binding family member B 78 KH 1. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1) 19 CGATCTCGGCGACATGCTCAG 0.647000 6 24 0 0 1 0 0 COL6A2 1292 broad.mit.edu 37 21 47532724 47532724 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:47532724G>C ENST00000300527.4 + 4 825 c.721G>C c.(721-723)Gaa>Caa p.E241Q COL6A2_ENST00000397763.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.E241Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.E241Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.E241Q|COL6A2_ENST00000460886.1_3'UTR NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 241 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GCAGAAACACGAAGCCTACGG 0.642000 17 56 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107568576 107568576 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:107568576G>A ENST00000374736.3 - 31 4804 c.4410C>T c.(4408-4410)atC>atT p.I1470I NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1470 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCATCTTCTTGATTTTGTCGC 0.582000 17 51 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18608840 18608840 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:18608840C>T ENST00000399799.1 - 10 2048 c.1108G>A c.(1108-1110)Gac>Aac p.D370N NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 370 AGC-kinase C-terminal.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCTTCCAAGTCATCAAAATTA 0.333000 33 64 0 0 1 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118385516 118385516 + RNA SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:118385516G>C ENST00000537242.1 + 0 290 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity p.K88K(2) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) TGGACCGCAAGACACGCTTCA 0.498000 16 26 0 0 1 0 0 RDH10 157506 broad.mit.edu 37 8 74231427 74231427 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:74231427G>A ENST00000240285.5 + 3 1300 c.622G>A c.(622-624)Gag>Aag p.E208K RDH10_ENST00000519380.1_Missense_Mutation_p.E43K|RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA NM_172037.4 NP_742034.1 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 (all-trans) 208 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 11 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) TGCCGGAGTTGAGGTTTGTCA 0.443000 46 89 0 0 1 0 0 PMPCA 23203 broad.mit.edu 37 9 139317659 139317659 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:139317659G>C ENST00000371717.3 + 13 1530 c.1521G>C c.(1519-1521)caG>caC p.Q507H PMPCA_ENST00000399219.3_Missense_Mutation_p.Q376H NM_015160.1 NP_055975.1 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 507 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1) 14 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) AGCACATCCAGACCGCCCTGT 0.647000 10 39 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238672057 238672057 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:238672057G>C ENST00000244815.5 + 10 1869 c.1629G>C c.(1627-1629)aaG>aaC p.K543N LRRFIP1_ENST00000289175.6_Missense_Mutation_p.K511N|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.K567N|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 567 DNA-binding. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) CATCGCagaagaagacaaaga 0.393000 26 53 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016850 1016850 + Missense_Mutation SNP A A G rs71472140 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:1016850A>G ENST00000421673.2 - 31 6001 c.5951T>C c.(5950-5952)aTg>aCg p.M1984T NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1984 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGTTGCAGTCATAGGACCTGT 0.587000 22 1900 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160952780 160952780 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:160952780C>T ENST00000447678.1 - 40 6224 c.6104G>A c.(6103-6105)gGa>gAa p.G2035E LPA_ENST00000484276.1_Intron|LPA_ENST00000316300.5_Missense_Mutation_p.G2035E NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4543 Kringle 18. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCTCATCATTCCCTCAATCCA 0.428000 18 69 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 49033948 49033948 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:49033948G>C ENST00000267163.4 + 20 2223 c.2085G>C c.(2083-2085)atG>atC p.M695I NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 695 Domain B.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGAACTCATGAGAGACAGGC 0.403000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 15 42 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27277505 27277505 + Missense_Mutation SNP G G A rs140538134 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:27277505G>A ENST00000397501.1 + 8 1106 c.298G>A c.(298-300)Gat>Aat p.D100N PTK2B_ENST00000420218.2_Missense_Mutation_p.D100N|PTK2B_ENST00000346049.5_Missense_Mutation_p.D100N|PTK2B_ENST00000517339.1_Missense_Mutation_p.D100N|PTK2B_ENST00000544172.1_Missense_Mutation_p.D100N|PTK2B_ENST00000338238.4_Missense_Mutation_p.D100N NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 100 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity p.D100Y(2) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) CATGAAGTCCGATGAGATCCA 0.587000 15 38 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98157020 98157020 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:98157020G>C ENST00000357947.3 - 11 1532 c.1307C>G c.(1306-1308)tCc>tGc p.S436C TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 436 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCTGTCCGTGGAGACGAGGGG 0.572000 24 48 0 0 1 0 0 SUV420H1 51111 broad.mit.edu 37 11 67942577 67942577 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:67942577C>G ENST00000304363.4 - 5 804 c.451G>C c.(451-453)Gag>Cag p.E151Q SUV420H1_ENST00000401547.2_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.E128Q|SUV420H1_ENST00000405515.1_Missense_Mutation_p.E151Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.E151Q NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AAGGCTTTCTCCAAGTGTTCA 0.353000 7 25 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115891626 115891626 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:115891626G>C ENST00000264363.2 - 4 1859 c.1181C>G c.(1180-1182)tCt>tGt p.S394C NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 394 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) CTCTACTAAAGATGACTCGTT 0.443000 17 32 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49043524 49043524 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:49043524C>T ENST00000343546.4 + 8 1743 c.1375C>T c.(1375-1377)Cgt>Tgt p.R459C P4HTM_ENST00000383729.4_Missense_Mutation_p.R398C NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 398 Fe2OG dioxygenase. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CGTGGACCTCCGTGACACACG 0.587000 4 173 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43363031 43363031 + Nonsense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:43363031C>T ENST00000290650.4 - 5 699 c.621G>A c.(619-621)tgG>tgA p.W207* UBR1_ENST00000382177.2_Nonsense_Mutation_p.W207* NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 207 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) TTTCCTCTTCCCATATAGTCA 0.373000 24 90 0 0 1 0 0 NPIPB15 440348 broad.mit.edu 37 16 74425456 74425456 + Silent SNP C C T rs2868596 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:74425456C>T ENST00000429990.1 + 7 906 c.810C>T c.(808-810)ctC>ctT p.L270L nuclear pore complex interacting protein family, member B15 CCGAATGTCTCCTTCATCCCC 0.488000 28 175 0 0 1 0 0 STPG2 285555 broad.mit.edu 37 4 99064195 99064195 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:99064195G>A ENST00000295268.3 - 1 196 c.107C>T c.(106-108)aCa>aTa p.T36I NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 CATCTTACCTGTCGCCTGCTG 0.557000 OREG0016268 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84608465 84608465 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:84608465G>T ENST00000344803.2 + 4 3127 c.3080G>T c.(3079-3081)aGa>aTa p.R1027I NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 p.R1027I(2) TCCCTTAGAAGAGGTACTACA 0.448000 25 269 7.07758e-08 7.32738e-08 1 1 0 TBX22 50945 broad.mit.edu 37 X 79286536 79286536 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:79286536G>A ENST00000442340.1 + 9 1619 c.1129G>A c.(1129-1131)Gac>Aac p.D377N TBX22_ENST00000373291.1_Missense_Mutation_p.D377N|TBX22_ENST00000373294.5_Missense_Mutation_p.D497N|TBX22_ENST00000373296.3_Missense_Mutation_p.D497N NM_001109878.1|NM_001109879.1 NP_001103348.1|NP_001103349.1 Q9Y458 TBX22_HUMAN T-box 22 497 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 AGTGAATGACGACAGTCAAGT 0.348000 13 50 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61441396 61441396 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:61441396C>G ENST00000398571.2 - 68 8557 c.8481G>C c.(8479-8481)aaG>aaC p.K2827N USP34_ENST00000472689.1_5'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 2827 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) AGGCAATGTTCTTGGTTACCA 0.443000 54 128 0 0 1 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140874379 140874379 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:140874379C>A ENST00000252085.3 + 2 2572 c.2430C>A c.(2428-2430)gcC>gcA p.A810A PCDHGB3_ENST00000576222.1_Silent_p.A807A|PCDHGA2_ENST00000394576.2_Silent_p.A810A|PCDHGA4_ENST00000571252.1_Silent_p.A809A|PCDHGB1_ENST00000523390.1_Silent_p.A805A|PCDHGB2_ENST00000522605.1_Silent_p.A809A|PCDHGA3_ENST00000253812.6_Silent_p.A810A|PCDHGA7_ENST00000518325.1_Silent_p.A810A|PCDHGA9_ENST00000573521.1_Silent_p.A810A|PCDHGB4_ENST00000519479.1_Silent_p.A801A|PCDHGB6_ENST00000520790.1_Silent_p.A808A|PCDHGA11_ENST00000518882.1_Silent_p.A628A|PCDHGA1_ENST00000517417.1_Silent_p.A809A|PCDHGA5_ENST00000518069.1_Silent_p.A809A|PCDHGA6_ENST00000517434.1_Silent_p.A810A|PCDHGA8_ENST00000398604.2_Silent_p.A810A|PCDHGA10_ENST00000398610.2_Silent_p.A814A|PCDHGC3_ENST00000308177.3_Silent_p.A812A|PCDHGC4_ENST00000306593.1_Silent_p.A816A|PCDHGC5_ENST00000252087.1_Silent_p.A822A|PCDHGA11_ENST00000398587.2_Silent_p.A813A|PCDHGB7_ENST00000398594.2_Silent_p.A807A NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACAGCAAGCCCCGCCCAACA 0.607000 20 51 5.35356e-11 5.62763e-11 1 1 0 ZNF532 55205 broad.mit.edu 37 18 56587240 56587240 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:56587240C>T ENST00000336078.4 + 4 2497 c.1721C>T c.(1720-1722)tCg>tTg p.S574L ZNF532_ENST00000591083.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S574L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S574L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S574L NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 CAGGTGGTGTCGTCCTTGCAG 0.517000 8 27 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109182988 109182988 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:109182988C>T ENST00000326495.5 - 15 2019 c.1926G>A c.(1924-1926)gtG>gtA p.V642V SSH1_ENST00000360239.3_Silent_p.V330V NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 642 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGGAAGGCTTCACTTTGTTAA 0.542000 5 10 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62489831 62489831 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:62489831C>G ENST00000301785.5 - 7 1309 c.1117G>C c.(1117-1119)Gaa>Caa p.E373Q RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E373Q NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 373 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AAGGAAAGTTCTACTTCTTCA 0.443000 40 93 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35274087 35274087 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:35274087G>A ENST00000356321.4 - 3 1893 c.1549C>T c.(1549-1551)Cac>Tac p.H517Y NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) CTTTTTAAGTGAGCTGACTGT 0.343000 23 58 0 0 1 0 0 CYC1 1537 broad.mit.edu 37 8 145152146 145152146 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:145152146G>A ENST00000318911.4 + 7 958 c.885G>A c.(883-885)atG>atA p.M295I NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 295 respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGTTGATGATGATGGCTCTGC 0.592000 14 26 0 0 1 0 0 MRPL52 122704 broad.mit.edu 37 14 23303385 23303385 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:23303385G>A ENST00000355151.5 + 5 257 c.227G>A c.(226-228)cGa>cAa p.R76Q MRPL52_ENST00000556840.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000397505.2_Silent_p.T54T|MRPL52_ENST00000555536.1_Silent_p.T19T|MRPL52_ENST00000557221.1_Missense_Mutation_p.R4Q|MRPL52_ENST00000397496.3_Missense_Mutation_p.R75Q|MRPL52_ENST00000432849.3_Silent_p.T77T|MRPL52_ENST00000553711.1_Missense_Mutation_p.R17Q|MRPL52_ENST00000311892.6_Missense_Mutation_p.E13K|MRPL52_ENST00000555345.1_Missense_Mutation_p.R17Q NM_178336.2|NM_180982.2|NM_181306.2 NP_848026.1|NP_851313.1|NP_851823.1 Q86TS9 RM52_HUMAN mitochondrial ribosomal protein L52 76 translation mitochondrial large ribosomal subunit structural constituent of ribosome all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) TTTCAGAGACGAGTTGTACTG 0.443000 20 35 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14307474 14307474 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:14307474G>A ENST00000571589.1 + 6 521 c.349G>A c.(349-351)Gaa>Aaa p.E117K MKL2_ENST00000341243.5_Missense_Mutation_p.E106K|MKL2_ENST00000318282.5_Missense_Mutation_p.E117K|MKL2_ENST00000572567.1_Missense_Mutation_p.E106K|MKL2_ENST00000573051.1_Missense_Mutation_p.E66K|MKL2_ENST00000574045.1_Missense_Mutation_p.E117K NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 106 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GCACATTTTAGAAGGTAAAGG 0.303000 7 41 0 0 1 0 0 ACSF3 197322 broad.mit.edu 37 16 89167208 89167208 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:89167208C>T ENST00000317447.4 + 3 496 c.119C>T c.(118-120)tCg>tTg p.S40L ACSF3_ENST00000406948.3_Missense_Mutation_p.S40L|ACSF3_ENST00000378345.4_Intron NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 40 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GTGGCCCGCTCGGACAGGAGC 0.677000 18 56 0 0 1 0 0 RPUSD3 285367 broad.mit.edu 37 3 9879810 9879810 + Missense_Mutation SNP G G A rs115670492 by1000genomes TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:9879810G>A ENST00000383820.5 - 9 947 c.946C>T c.(946-948)Cgg>Tgg p.R316W TTLL3_ENST00000455274.1_Intron|RPUSD3_ENST00000433535.2_Missense_Mutation_p.R301W|RPUSD3_ENST00000424438.1_3'UTR NM_173659.3 NP_775930.2 Q6P087 RUSD3_HUMAN RNA pseudouridylate synthase domain containing 3 316 pseudouridine synthesis pseudouridine synthase activity|RNA binding central_nervous_system(2)|endometrium(3)|lung(2) 7 Medulloblastoma(99;0.227) AGAAGGAGCCGATGTAGGTGG 0.662000 11 22 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197071384 197071384 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:197071384C>T ENST00000367409.4 - 18 7253 c.6997G>A c.(6997-6999)Gag>Aag p.E2333K ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 2333 IQ 22. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CTGTGCATCTCTCGCATCCTT 0.403000 10 110 0 0 1 0 0 ARFIP2 23647 broad.mit.edu 37 11 6500028 6500028 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:6500028C>T ENST00000254584.2 - 5 560 c.477G>A c.(475-477)caG>caA p.Q159Q ARFIP2_ENST00000525235.1_Silent_p.Q159Q|ARFIP2_ENST00000445086.2_Silent_p.Q74Q|ARFIP2_ENST00000423813.2_Silent_p.Q121Q|ARFIP2_ENST00000396777.3_Silent_p.Q159Q NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 159 AH. actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATGCTGGGTCTGCAGCAGGC 0.597000 13 29 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68504713 68504713 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:68504713C>G ENST00000322244.4 - 19 1743 c.1684G>C c.(1684-1686)Gat>Cat p.D562H NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 562 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 ATAATTACATCTTGTTTAGTA 0.333000 15 39 0 0 1 0 0 MYADM 91663 broad.mit.edu 37 19 54377298 54377298 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:54377298T>C ENST00000391769.2 + 3 795 c.515T>C c.(514-516)gTa>gCa p.V172A MYADM_ENST00000391768.2_Missense_Mutation_p.V172A|MYADM_ENST00000391770.4_Missense_Mutation_p.V172A|MYADM_ENST00000391771.1_Missense_Mutation_p.V172A|MYADM_ENST00000336967.3_Missense_Mutation_p.V172A NM_001020821.1 NP_001018657.1 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 172 MARVEL 2. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) ATGGCCACCGTACCCGGGCTG 0.652000 32 82 0 0 1 0 0 GTF2F1 2962 broad.mit.edu 37 19 6389541 6389541 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:6389541C>G ENST00000394456.5 - 4 704 c.240G>C c.(238-240)cgG>cgC p.R80R CTB-180A7.6_ENST00000599584.1_RNA|GTF2F1_ENST00000429701.2_Silent_p.R52R NM_002096.2 NP_002087.2 P35269 T2FA_HUMAN general transcription factor IIF, polypeptide 1, 74kDa 80 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cell junction|transcription factor TFIIF complex catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4) 16 ACTTCTTCCTCCGAGCCTCCT 0.607000 60 190 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195511818 195511818 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:195511818G>A ENST00000463781.3 - 2 7092 c.6633C>T c.(6631-6633)gtC>gtT p.V2211V MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V2211V NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 1000 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AAGGGCTGGTGACAGGAAGAG 0.597000 3 3 0 0 1 0 0 LGALS3BP 3959 broad.mit.edu 37 17 76967898 76967898 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:76967898G>A ENST00000262776.3 - 6 1826 c.1518C>T c.(1516-1518)ctC>ctT p.L506L LGALS3BP_ENST00000591778.1_3'UTR NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 506 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) CAGACTTGGTGAGGCCCAGGA 0.602000 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 40 0 0 1 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175878 140175878 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:140175878C>T ENST00000526136.1 + 1 1329 c.1329C>T c.(1327-1329)atC>atT p.I443I PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.I443I|PCDHA2_ENST00000378132.1_Silent_p.I443I|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTGTCCATCGAGGTGGCCG 0.652000 45 127 0 0 1 0 0 MCHR1 2847 broad.mit.edu 37 22 41077127 41077127 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:41077127C>T ENST00000249016.4 + 2 1160 c.464C>T c.(463-465)tCg>tTg p.S155L MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Splice_Site_p.S155_splice NM_005297.3 NP_005288.3 Q99705 MCHR1_HUMAN melanin-concentrating hormone receptor 1 155 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 ATCAACCTCTCGGTAGTAGAT 0.557000 33 67 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7607554 7607554 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:7607554C>G ENST00000221249.6 + 14 1674 c.1243C>G c.(1243-1245)Cgg>Ggg p.R415G PNPLA6_ENST00000545201.2_Missense_Mutation_p.R415G|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R415G|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R454G|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R463G NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 454 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 AGCCCCCGCTCGGGTAAGGCT 0.706000 13 32 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68265222 68265222 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:68265222G>C ENST00000347230.4 - 11 1895 c.1757C>G c.(1756-1758)tCt>tGt p.S586C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S586C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 586 S -> P (in Ref. 3; CAH18131). cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AAGATCAGCAGAGGTGATGAG 0.512000 27 39 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30415704 30415704 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:30415704G>A ENST00000333027.3 + 17 2384 c.2056G>A c.(2056-2058)Gag>Aag p.E686K MTMR3_ENST00000351488.3_Missense_Mutation_p.E686K|MTMR3_ENST00000401950.2_Missense_Mutation_p.E686K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E686K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E550K NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 686 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CGGAGTAGCTGAGGGGCAGAT 0.607000 41 90 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37154617 37154617 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:37154617G>C ENST00000262879.6 + 13 2266 c.1982G>C c.(1981-1983)aGa>aCa p.R661T RALGAPB_ENST00000397042.3_Missense_Mutation_p.R661T|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R661T|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R439T Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 661 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 CTGAAGTTGAGACTTGTGAAT 0.353000 22 100 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955360 102955360 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:102955360C>T ENST00000311734.2 + 3 464 c.125C>T c.(124-126)cCt>cTt p.P42L IL1RL1_ENST00000393393.3_Missense_Mutation_p.P42L|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000409584.1_Missense_Mutation_p.P42L|IL1RL1_ENST00000404917.2_Intron Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 42 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CAAGGAAAACCTAGTTACACC 0.378000 34 106 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77526649 77526649 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:77526649G>T ENST00000461745.1 + 3 1373 c.473G>T c.(472-474)cGg>cTg p.R158L ROBO2_ENST00000332191.8_Missense_Mutation_p.R158L|ROBO2_ENST00000487694.3_Missense_Mutation_p.R174L NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 158 Ig-like C2-type 2. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CAGCCTCCCCGGGGACACCCA 0.458000 23 102 5.26018e-13 5.58667e-13 1 1 0 FEM1B 10116 broad.mit.edu 37 15 68583057 68583057 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:68583057C>G ENST00000306917.4 + 2 1976 c.1361C>G c.(1360-1362)tCt>tGt p.S454C NM_015322.3 NP_056137.1 Q9UK73 FEM1B_HUMAN fem-1 homolog b (C. elegans) 454 apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 9 GTGTGCATCTCTACCAAAACA 0.383000 26 84 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 465825 465825 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:465825C>T ENST00000437048.2 - 14 1620 c.1474G>A c.(1474-1476)Gag>Aag p.E492K VPS53_ENST00000446250.2_Missense_Mutation_p.E294K|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000401468.3_Missense_Mutation_p.E215K|VPS53_ENST00000291074.5_Missense_Mutation_p.E463K|VPS53_ENST00000571805.1_Missense_Mutation_p.E492K NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 492 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) ATCATGGGCTCCCCAGTACTG 0.552000 30 73 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7866918 7866918 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:7866918C>A ENST00000264669.5 - 2 1415 c.1279G>T c.(1279-1281)Gct>Tct p.A427S FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 427 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTAAATAAAGCAGAGGCATTT 0.338000 21 46 8.10497e-08 8.37695e-08 1 1 0 AKNA 80709 broad.mit.edu 37 9 117139390 117139390 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:117139390C>G ENST00000307564.4 - 3 858 c.697G>C c.(697-699)Gaa>Caa p.E233Q AKNA_ENST00000374075.5_Missense_Mutation_p.E152Q|AKNA_ENST00000374088.3_Missense_Mutation_p.E233Q|AKNA_ENST00000312033.3_Missense_Mutation_p.E233Q NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 233 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 GGCAAGGTTTCTGCCAGGGCA 0.622000 17 31 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160755537 160755537 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:160755537G>A ENST00000263636.4 - 2 155 c.128C>T c.(127-129)aCg>aTg p.T43M LY75_ENST00000554112.1_Missense_Mutation_p.T43M|LY75_ENST00000553424.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.T43M|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.T43M NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) GCACTTGCCCGTATTTCCATG 0.502000 4 159 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7601351 7601351 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:7601351C>T ENST00000221249.6 + 6 646 c.215C>T c.(214-216)tCc>tTc p.S72F CTD-2207O23.10_ENST00000601870.1_3'UTR|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S72F|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S72F|PNPLA6_ENST00000600737.1_Missense_Mutation_p.S111F|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S120F NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 111 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 CAATCCACCTCCTCCCTCGTG 0.547000 11 30 0 0 1 0 0 TLR8 51311 broad.mit.edu 37 X 12938837 12938837 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:12938837G>A ENST00000218032.6 + 2 1765 c.1678G>A c.(1678-1680)Gat>Aat p.D560N TLR8_ENST00000311912.5_Missense_Mutation_p.D578N NM_138636.4 NP_619542.1 Q9NR97 TLR8_HUMAN toll-like receptor 8 560 cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GGAAGTTCTAGATCTCAGCTA 0.333000 19 40 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024347 27024347 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:27024347G>C ENST00000354760.3 + 5 431 c.396G>C c.(394-396)atG>atC p.M132I CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 132 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 TCCAGGCCATGGGATGGGAAG 0.562000 30 74 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62362519 62362519 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:62362519C>T ENST00000278823.2 - 15 1896 c.1507G>A c.(1507-1509)Gcc>Acc p.A503T MTA2_ENST00000527204.1_Missense_Mutation_p.A330T|MTA2_ENST00000524902.1_Missense_Mutation_p.A330T NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 503 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A503T(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 GGAGTCTTGGCGGCCTTAGGA 0.527000 4 205 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66457861 66457861 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:66457861C>G ENST00000383703.3 - 8 1593 c.990G>C c.(988-990)ctG>ctC p.L330L LRIG1_ENST00000273261.3_Silent_p.L330L Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 330 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) TCAGGCTGCTCAGCTCGGCCA 0.597000 14 36 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29301228 29301228 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:29301228G>C ENST00000378993.1 + 3 929 c.256G>C c.(256-258)Gaa>Caa p.E86Q IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E86Q NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 86 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 TGGAGACTTTGAAGAGCCAAT 0.448000 22 75 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104433 5104433 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:5104433G>C ENST00000396912.1 + 5 1865 c.1346G>C c.(1345-1347)aGa>aCa p.R449T RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.R449T|RBAK_ENST00000407184.1_Intron NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 449 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATACATTATAGAAGTCATTTA 0.398000 19 50 0 0 1 0 0 CHST12 55501 broad.mit.edu 37 7 2472855 2472855 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:2472855C>T ENST00000258711.6 + 2 716 c.581C>T c.(580-582)gCg>gTg p.A194V NM_001243794.1|NM_001243795.1|NM_018641.4 NP_001230723.1|NP_001230724.1|NP_061111.1 Q9NRB3 CHSTC_HUMAN carbohydrate (chondroitin 4) sulfotransferase 12 194 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CACCGCGGTGCGCCCTACCGC 0.677000 30 67 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87178750 87178750 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:87178750G>A ENST00000265724.3 - 15 2056 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C ABCB1_ENST00000543898.1_Missense_Mutation_p.R483C NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 547 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTGGGGTTGCGAACCAGGGCA 0.562000 34 63 0 0 1 0 0 RILP 83547 broad.mit.edu 37 17 1549896 1549896 + Missense_Mutation SNP C C T rs75242198 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:1549896C>T ENST00000301336.6 - 8 1318 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q NM_031430.2 NP_113618.2 Q96NA2 RILP_HUMAN Rab interacting lysosomal protein 349 endosome to lysosome transport|protein transport late endosome membrane|lysosomal membrane|phagocytic vesicle membrane Rab GTPase binding endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGCTTTACCCCGATACCATAG 0.577000 35 81 0 0 1 0 0 ZNF654 55279 broad.mit.edu 37 3 88188595 88188595 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:88188595G>C ENST00000309495.5 + 1 342 c.135G>C c.(133-135)aaG>aaC p.K45N CGGBP1_ENST00000462901.1_Intron NM_018293.2 NP_060763.2 Q8IZM8 ZN654_HUMAN zinc finger protein 654 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3) 12 Lung NSC(201;0.0283) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AGCATTTGAAGAATCATGTTA 0.393000 14 33 0 0 1 0 0 FAM9C 171484 broad.mit.edu 37 X 13061274 13061274 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:13061274G>C ENST00000542843.1 - 3 365 c.155C>G c.(154-156)tCt>tGt p.S52C FAM9C_ENST00000333995.3_Missense_Mutation_p.S52C|FAM9C_ENST00000380625.3_Missense_Mutation_p.S52C Q8IZT9 FAM9C_HUMAN family with sequence similarity 9, member C 52 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 TTCAGCAAAAGATCCTCTTTC 0.423000 43 166 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100820140 100820140 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:100820140C>G ENST00000355338.2 - 6 1227 c.609G>C c.(607-609)tgG>tgC p.W203C WARS_ENST00000344102.5_Missense_Mutation_p.W162C|WARS_ENST00000554084.1_5'UTR|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.W162C|WARS_ENST00000557135.1_Missense_Mutation_p.W203C|WARS_ENST00000358655.4_Missense_Mutation_p.W162C|WARS_ENST00000392882.2_Missense_Mutation_p.W203C NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 203 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) TCAGGTCCTTCCACAGATACT 0.498000 15 71 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15535124 15535124 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:15535124C>T ENST00000389282.4 - 9 4879 c.4666G>A c.(4666-4668)Gac>Aac p.D1556N WIZ_ENST00000599910.1_Missense_Mutation_p.D873N|WIZ_ENST00000545156.1_Missense_Mutation_p.D870N|WIZ_ENST00000263381.6_Missense_Mutation_p.D699N|WIZ_ENST00000599686.2_Missense_Mutation_p.D740N O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1556 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 TGCTGTAGGTCATTGGTGTCC 0.657000 22 38 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100205590 100205590 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:100205590G>C ENST00000209668.2 - 5 646 c.533C>G c.(532-534)tCa>tGa p.S178* RP11-696N14.1_ENST00000500358.2_RNA NM_000667.3 NP_000658.1 P07327 ADH1A_HUMAN alcohol dehydrogenase 1A (class I), alpha polypeptide 178 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) ATAACCAGTTGAAAATCCACA 0.458000 28 71 0 0 1 0 0 MROH9 80133 broad.mit.edu 37 1 170955749 170955749 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:170955749G>T ENST00000367759.4 + 10 931 c.777G>T c.(775-777)caG>caT p.Q259H MROH9_ENST00000367758.3_Missense_Mutation_p.Q259H NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ACTTTGTGCAGAGTCTCCTGA 0.453000 19 58 1.00905e-13 1.07353e-13 1 1 0 NLRC4 58484 broad.mit.edu 37 2 32463255 32463255 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:32463255C>T ENST00000404025.2 - 7 2955 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K NLRC4_ENST00000342905.6_Missense_Mutation_p.E158K|NLRC4_ENST00000402280.1_Missense_Mutation_p.E823K|NLRC4_ENST00000360906.5_Missense_Mutation_p.E823K Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 823 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TGAATTTCTTCAAGGTCACAG 0.403000 46 90 0 0 1 0 0 TBX3 6926 broad.mit.edu 37 12 115120855 115120855 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:115120855C>T ENST00000349155.2 - 1 1114 c.151G>A c.(151-153)Gcg>Acg p.A51T TBX3_ENST00000257566.3_Missense_Mutation_p.A51T NM_005996.3 NP_005987.3 O15119 TBX3_HUMAN T-box 3 51 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) AGCGCCGCCGCGCCGTTGGGA 0.721000 14 58 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19905518 19905518 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:19905518C>G ENST00000443905.2 - 4 1325 c.1178G>C c.(1177-1179)gGa>gCa p.G393A ZNF506_ENST00000587461.1_Intron|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.G393A|ZNF506_ENST00000450683.2_Missense_Mutation_p.G361A|CTC-559E9.6_ENST00000589657.1_RNA Q5JVG8 ZN506_HUMAN zinc finger protein 506 393 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 CGGTTTCTCTCCAGTATGAAT 0.378000 20 55 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89327638 89327638 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:89327638G>C ENST00000338104.6 + 10 971 c.919G>C c.(919-921)Gaa>Caa p.E307Q TTC8_ENST00000536576.1_Missense_Mutation_p.E52Q|TTC8_ENST00000380656.2_Missense_Mutation_p.E291Q|TTC8_ENST00000346301.4_Missense_Mutation_p.E251Q|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000358622.5_Missense_Mutation_p.E93Q|TTC8_ENST00000345383.5_Missense_Mutation_p.E281Q Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 317 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 GTTTCCAGGAGAAGTAACCCT 0.299000 22 35 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59112454 59112454 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:59112454G>A ENST00000395153.3 + 4 1149 c.1002G>A c.(1000-1002)ctG>ctA p.L334L DACT1_ENST00000335867.4_Silent_p.L371L|DACT1_ENST00000541264.2_Silent_p.L90L|DACT1_ENST00000556859.1_Silent_p.L90L|DACT1_ENST00000395151.3_Silent_p.L90L NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 371 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AAGGGCTTCTGAGGAACGGGA 0.552000 23 61 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 146 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160709782 160709782 + Splice_Site SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:160709782A>G ENST00000263636.4 - 20 2771 c.e20+1 LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) AATTAACTTTACCGATAAGCC 0.353000 16 47 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61149497 61149497 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:61149497G>C ENST00000295025.7 + 11 2007 c.1687G>C c.(1687-1689)Gag>Cag p.E563Q REL_ENST00000394479.3_Missense_Mutation_p.E531Q NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 563 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) AGATGCATTTGAGGGATCTGA 0.423000 A Hodgkin Lymphoma 38 78 0 0 1 0 0 RP11-5A19.5 0 broad.mit.edu 37 16 67197675 67197675 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:67197675C>G ENST00000580114.1 + 1 388 c.388C>G c.(388-390)Caa>Gaa p.Q130E RP11-5A19.5_ENST00000518753.1_3'UTR|FBXL8_ENST00000519917.1_Silent_p.L359L|HSF4_ENST00000264009.8_5'UTR|HSF4_ENST00000421453.1_5'UTR|FBXL8_ENST00000258200.3_Silent_p.L359L CCTATACCCTCAAGCTCACGC 0.682000 17 36 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32956042 32956042 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:32956042G>T ENST00000321639.5 + 5 1215 c.887G>T c.(886-888)gGc>gTc p.G296V NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 296 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) GAGGGCCAGGGCCCCTTGGAG 0.612000 32 107 6.53348e-20 7.0981e-20 1 1 0 PTPRH 5794 broad.mit.edu 37 19 55715379 55715379 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:55715379C>G ENST00000376350.3 - 5 679 c.657G>C c.(655-657)caG>caC p.Q219H PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Intron NM_002842.3 NP_002833.3 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 219 Fibronectin type-III 3. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) AGCTGGTGGTCTGAGCCTCCA 0.547000 22 78 0 0 1 0 0 GPC3 2719 broad.mit.edu 37 X 132887678 132887678 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:132887678C>A ENST00000370818.3 - 3 1308 c.863G>T c.(862-864)gGt>gTt p.G288V GPC3_ENST00000394299.2_Missense_Mutation_p.G288V|GPC3_ENST00000543339.1_Missense_Mutation_p.G234V NM_001164618.1|NM_004484.3 NP_001158090.1|NP_004475.1 P51654 GPC3_HUMAN glypican 3 288 extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2) 36 Acute lymphoblastic leukemia(192;0.000127) CTCCACCACACCTGCCATACA 0.468000 """T, D, Mis, N, F, S""" Wilms tumour Simpson-Golabi-Behmel syndrome 9 171 1.76689e-08 1.83852e-08 1 1 0 MED29 55588 broad.mit.edu 37 19 39882005 39882005 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:39882005G>A ENST00000315588.5 + 1 55 c.6G>A c.(4-6)ctG>ctA p.L2L NM_017592.1 NP_060062.1 Q9NX70 MED29_HUMAN mediator complex subunit 29 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(1)|pancreas(1) 4 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TAGGGATGCTGAAAAGCAACG 0.572000 9 28 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67696303 67696303 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:67696303C>A ENST00000545606.1 + 8 1638 c.1201C>A c.(1201-1203)Ctt>Att p.L401I NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 401 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ATACCTTTCTCTTTTGAAGCA 0.433000 51 88 1.21353e-23 1.32542e-23 1 1 0 EML3 256364 broad.mit.edu 37 11 62374473 62374473 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:62374473C>T ENST00000394773.2 - 12 1768 c.1461G>A c.(1459-1461)cgG>cgA p.R487R EML3_ENST00000494176.2_Silent_p.R459R|EML3_ENST00000531557.1_Silent_p.R270R|EML3_ENST00000529309.1_Silent_p.R487R|EML3_ENST00000278845.4_Silent_p.R488R|EML3_ENST00000438258.1_5'UTR NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 487 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 CTGAAGGGCTCCGCCCCCAGG 0.542000 20 48 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13910431 13910431 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:13910431C>A ENST00000294489.6 + 1 472 c.131C>A c.(130-132)tCc>tAc p.S44Y PDPN_ENST00000376057.4_Missense_Mutation_p.S44Y Q86YL7 PDPN_HUMAN podoplanin 0 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CCGTCGCGCTCCTCCAGGCTG 0.657000 16 32 1.99824e-07 2.05495e-07 1 1 0 SPANXC 64663 broad.mit.edu 37 X 140335792 140335792 + Missense_Mutation SNP A A T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:140335792A>T ENST00000358993.2 - 2 190 c.152T>A c.(151-153)cTa>cAa p.L51Q NM_022661.2 NP_073152.1 Q9NY87 SPNXC_HUMAN SPANX family, member C 51 cytoplasm|nucleus large_intestine(2)|lung(3)|pancreas(1) 6 Acute lymphoblastic leukemia(192;7.65e-05) GCGAACCACTAGTATGGTCGA 0.507000 17 120 0 0 1 0 0 MTERFD1 51001 broad.mit.edu 37 8 97263142 97263142 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:97263142C>T ENST00000523821.1 - 4 788 c.669G>A c.(667-669)ctG>ctA p.L223L MTERFD1_ENST00000524341.1_Silent_p.L33L|MTERFD1_ENST00000522822.1_Silent_p.L102L|MTERFD1_ENST00000287025.3_Silent_p.L223L Q96E29 MTER1_HUMAN MTERF domain containing 1 223 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) ACCTGGTCTTCAGATTTTCAA 0.358000 17 45 0 0 1 0 0 CXorf56 63932 broad.mit.edu 37 X 118675309 118675309 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:118675309C>G ENST00000320339.4 - 6 712 c.441G>C c.(439-441)aaG>aaC p.K147N CXorf56_ENST00000469448.1_5'UTR|CXorf56_ENST00000536133.1_Missense_Mutation_p.K182N|CXorf56_ENST00000486230.1_Missense_Mutation_p.K196N|CXorf56_ENST00000371594.4_Missense_Mutation_p.K196N|CXorf56_ENST00000476164.1_Missense_Mutation_p.K196N NM_001170569.1 NP_001164040.1 Q9H5V9 CX056_HUMAN chromosome X open reading frame 56 196 protein binding cervix(1)|endometrium(2)|lung(7) 10 GCAGTCGCCTCTTGCTCATGC 0.493000 30 104 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 274962 274962 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:274962C>G ENST00000538872.1 + 11 2995 c.2877C>G c.(2875-2877)ttC>ttG p.F959L RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.F959L|IQSEC3_ENST00000382841.2_Missense_Mutation_p.F656L Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 959 PH. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TGCTGCATTTCTGTGCCCTGG 0.587000 22 47 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57320617 57320617 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:57320617C>G ENST00000361249.3 + 1 139 c.43C>G c.(43-45)Cag>Gag p.Q15E NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 15 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 GATGACTTGTCAGCCTGGGGT 0.453000 5 23 0 0 1 0 0 GPHN 10243 broad.mit.edu 37 14 67576890 67576890 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:67576890C>T ENST00000478722.1 + 14 2448 c.1327C>T c.(1327-1329)Cgg>Tgg p.R443W GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Missense_Mutation_p.R410W|GPHN_ENST00000305960.9_Missense_Mutation_p.R379W|GPHN_ENST00000543237.1_Missense_Mutation_p.R456W NM_020806.4 NP_065857.1 Q9NQX3 GEPH_HUMAN gephyrin 410 MPT adenylyltransferase. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity large_intestine(8)|liver(1)|ovary(2)|stomach(1) 12 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) ACAAGTCATGCGGGTTACAAC 0.453000 T MLL AL 5 139 0 0 1 0 0 SCO1 6341 broad.mit.edu 37 17 10600743 10600743 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:10600743C>G ENST00000255390.5 - 1 142 c.82G>C c.(82-84)Gag>Cag p.E28Q SCO1_ENST00000577427.1_Missense_Mutation_p.E28Q NM_004589.2 NP_004580.1 O75880 SCO1_HUMAN SCO1 cytochrome c oxidase assembly protein 28 cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly mitochondrial inner membrane copper ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1) 10 CCCCAAAACTCGAGTCCGCGA 0.667000 11 10 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31600501 31600501 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31600501G>A ENST00000376033.2 + 16 4285 c.4051G>A c.(4051-4053)Gtg>Atg p.V1351M PRRC2A_ENST00000376007.4_Missense_Mutation_p.V1351M NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1351 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 ACCCAAGGCTGTGGGAACTCC 0.582000 38 104 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122288293 122288293 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:122288293C>G ENST00000296161.4 + 3 1546 c.1357C>G c.(1357-1359)Ctt>Gtt p.L453V DTX3L_ENST00000383661.3_Intron NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 453 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) GAGAGAAGTTCTTTTACTGAA 0.403000 41 113 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155510018 155510018 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:155510018C>T ENST00000302053.3 - 3 369 c.291G>A c.(289-291)aaG>aaA p.K97K FGA_ENST00000403106.3_Silent_p.K97K NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 97 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CCTTATTGTTCTTCTGATATT 0.333000 35 75 0 0 1 0 0 SLC45A3 85414 broad.mit.edu 37 1 205632625 205632625 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:205632625C>T ENST00000367145.3 - 3 589 c.294G>A c.(292-294)ctG>ctA p.L98L NM_033102.2 NP_149093.1 Q96JT2 S45A3_HUMAN solute carrier family 45, member 3 98 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GAAAGAGGCTCAGCAGGATGC 0.677000 T """ETV1, ETV5, ELK4, ERG""" prostate 13 42 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3790493 3790493 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:3790493C>T ENST00000262367.5 - 24 4849 c.4040G>A c.(4039-4041)cGg>cAg p.R1347Q CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309Q NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1347 Cys/His-rich. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATTCTGGCGCCGCAAAAATTT 0.567000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 20 56 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19483580 19483580 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:19483580G>C ENST00000507958.1 - 14 2702 c.1712C>G c.(1711-1713)tCt>tGt p.S571C CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.S571C|CDH18_ENST00000274170.4_Missense_Mutation_p.S571C Q13634 CAD18_HUMAN cadherin 18, type 2 571 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCCACCATCAGAGATCATAAT 0.507000 12 28 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089293 12089293 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:12089293C>T ENST00000343949.5 + 4 718 c.563C>T c.(562-564)tCa>tTa p.S188L ZNF763_ENST00000545530.1_Missense_Mutation_p.S63L|ZNF763_ENST00000538752.1_Missense_Mutation_p.S205L|ZNF763_ENST00000590798.1_Missense_Mutation_p.S205L|ZNF763_ENST00000358987.3_Missense_Mutation_p.S185L NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 ATTTCCCATTCAGGCATTCGA 0.413000 45 125 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60881334 60881334 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:60881334G>T ENST00000253003.2 + 4 458 c.412G>T c.(412-414)Ggg>Tgg p.G138W RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR NM_007002.2|NM_175573.1 NP_008933.2|NP_783163.1 Q16186 ADRM1_HUMAN adhesion regulating molecule 1 138 Gly-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) TGGGGCGCTGGGGGCCAGCGG 0.597000 44 132 1.48734e-19 1.61303e-19 1 1 0 PLRG1 5356 broad.mit.edu 37 4 155457852 155457852 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:155457852C>G ENST00000499023.2 - 15 1656 c.1530G>C c.(1528-1530)aaG>aaC p.K510N PLRG1_ENST00000393905.2_Missense_Mutation_p.K510N|PLRG1_ENST00000302078.5_Missense_Mutation_p.K501N NM_001201564.1|NM_002669.3 NP_001188493.1|NP_002660.1 O43660 PLRG1_HUMAN pleiotropic regulator 1 510 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) ATCTCTTTCTCTTGATAATTT 0.279000 15 21 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17213220 17213220 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:17213220G>A ENST00000595618.1 + 2 845 c.693G>A c.(691-693)gtG>gtA p.V231V MYO9B_ENST00000397274.2_Silent_p.V231V|MYO9B_ENST00000594824.1_Silent_p.V231V|MYO9B_ENST00000593411.1_3'UTR NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 231 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GGAAGCGCGTGAACCAGTGCA 0.607000 32 67 0 0 1 0 0 NOSTRIN 115677 broad.mit.edu 37 2 169707858 169707858 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:169707858G>A ENST00000444448.2 + 13 1446 c.970G>A c.(970-972)Gaa>Aaa p.E324K NOSTRIN_ENST00000317647.7_Missense_Mutation_p.E267K|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.E189K|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.E239K|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.E324K Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficking 267 endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 9 TGTAATGGAAGAAACTGCAAT 0.373000 12 33 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153587740 153587740 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:153587740C>G ENST00000422373.1 - 25 4425 c.4177G>C c.(4177-4179)Gag>Cag p.E1393Q FLNA_ENST00000360319.4_Missense_Mutation_p.E1393Q|FLNA_ENST00000369850.3_Missense_Mutation_p.E1393Q|FLNA_ENST00000344736.4_Missense_Mutation_p.E1393Q NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1393 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GAGGGGCCCTCTACAGCCAGG 0.647000 82 187 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 383734 383734 + Missense_Mutation SNP G G C rs116736772 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:383734G>C ENST00000256509.2 + 7 1290 c.648G>C c.(646-648)caG>caC p.Q216H CHL1_ENST00000397491.2_Missense_Mutation_p.Q216H NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 216 Ig-like C2-type 2. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CTATTGTACAGAAAATGCCAA 0.383000 7 23 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046559 17046559 + RNA SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:17046559C>A ENST00000492551.1 - 0 93 NR_026567.1 GCGGTGGGATCCCCACCGCCA 0.607000 20 176 1.64113e-05 1.67097e-05 1 1 0 SCN8A 6334 broad.mit.edu 37 12 52200305 52200305 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:52200305G>A ENST00000354534.5 + 27 5213 c.5035G>A c.(5035-5037)Gag>Aag p.E1679K SCN8A_ENST00000545061.1_Missense_Mutation_p.E1638K NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1679 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TGTGAAGCACGAGGCTGGTAT 0.478000 71 54 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32029484 32029484 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:32029484C>G ENST00000375244.3 - 21 7383 c.7182G>C c.(7180-7182)gaG>gaC p.E2394D TNXB_ENST00000375247.2_Missense_Mutation_p.E2394D P22105 TENX_HUMAN tenascin XB 2454 Fibronectin type-III 16. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCTGGGGGTCTCTTCCTCTG 0.617000 29 78 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27003401 27003401 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:27003401G>A ENST00000314616.6 + 7 1133 c.850G>A c.(850-852)Gat>Aat p.D284N SUPT6H_ENST00000347486.4_Missense_Mutation_p.D284N NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 284 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CCACCTCACAGATCAGGACAA 0.507000 31 95 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1192678 1192678 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:1192678G>A ENST00000397203.2 + 3 1424 c.1018G>A c.(1018-1020)Gag>Aag p.E340K ERC1_ENST00000543086.3_Missense_Mutation_p.E340K|ERC1_ENST00000360905.4_Missense_Mutation_p.E340K|ERC1_ENST00000546231.2_Missense_Mutation_p.E340K|ERC1_ENST00000589028.1_Missense_Mutation_p.E340K|ERC1_ENST00000355446.5_Missense_Mutation_p.E340K Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 340 I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GGCAGAGGCAGAGATGCACGT 0.428000 35 96 0 0 1 0 0 DNAL4 10126 broad.mit.edu 37 22 39176933 39176933 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:39176933C>A ENST00000216068.4 - 3 395 c.151G>T c.(151-153)Gag>Tag p.E51* DNAL4_ENST00000486019.1_Intron|DNAL4_ENST00000406199.3_Nonsense_Mutation_p.E51*|SUN2_ENST00000406622.1_Intron NM_005740.2 NP_005731.1 O96015 DNAL4_HUMAN dynein, axonemal, light chain 4 51 microtubule-based movement|nerve growth factor receptor signaling pathway axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane ATPase activity, coupled|microtubule motor activity lung(1)|skin(1) 2 Melanoma(58;0.04) GGCAATACCTCGTTGTTGTTG 0.572000 13 40 2.27111e-07 2.33167e-07 1 1 0 SLC12A1 6557 broad.mit.edu 37 15 48566825 48566825 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:48566825C>G ENST00000396577.3 + 20 2675 c.2460C>G c.(2458-2460)gaC>gaG p.D820E SLC12A1_ENST00000558405.1_Missense_Mutation_p.D820E|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D820E NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 820 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) AAGGATTTGACATCTCTCAGG 0.393000 13 19 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47356861 47356861 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:47356861C>T ENST00000378720.3 - 6 504 c.322G>A c.(322-324)Gat>Aat p.D108N ESD_ENST00000378697.1_Missense_Mutation_p.D79N|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 108 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) TCAGTGGCATCAACATAAAAT 0.383000 32 77 0 0 1 0 0 GML 2765 broad.mit.edu 37 8 143927842 143927842 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:143927842G>C ENST00000220940.1 + 4 303 c.213G>C c.(211-213)aaG>aaC p.K71N NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 71 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TTGTTTATAAGAACTGTACAA 0.348000 23 50 0 0 1 0 0 L3MBTL1 26013 broad.mit.edu 37 20 42169752 42169752 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:42169752G>T ENST00000373135.3 + 19 2435 c.2303G>T c.(2302-2304)aGt>aTt p.S768I L3MBTL1_ENST00000444063.1_3'UTR|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.S836I|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.S836I|L3MBTL1_ENST00000373134.1_3'UTR NM_015478.6 NP_056293.4 Q9Y468 LMBL1_HUMAN l(3)mbt-like 1 (Drosophila) 0 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(3)|ovary(1)|skin(2) 7 AGCTTTGCCAGTGATAGTCAA 0.378000 35 77 2.42023e-17 2.60185e-17 1 1 0 PZP 5858 broad.mit.edu 37 12 9303306 9303306 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:9303306G>A ENST00000261336.2 - 34 4346 c.4318C>T c.(4318-4320)Ctg>Ttg p.L1440L PZP_ENST00000381997.2_Silent_p.L1226L NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATGTCTTGCAGAACCATGAAG 0.393000 22 59 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10223795 10223795 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:10223795G>T ENST00000418404.3 - 24 3293 c.3130C>A c.(3130-3132)Cag>Aag p.Q1044K MYH13_ENST00000570743.1_Missense_Mutation_p.Q1044K|MYH13_ENST00000252172.4_Missense_Mutation_p.Q1044K|RP11-401O9.3_ENST00000577743.1_RNA Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1044 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCTTCTCCTGCTCTAAGGAA 0.493000 7 17 0.00198382 0.00200005 1 1 0 FAM120C 54954 broad.mit.edu 37 X 54099642 54099642 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:54099642C>T ENST00000375180.2 - 16 3171 c.3115G>A c.(3115-3117)Gca>Aca p.A1039T FAM120C_ENST00000328235.4_3'UTR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 1039 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 TTGATCAATGCGCCACTGTTT 0.458000 18 64 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139781638 139781638 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:139781638C>T ENST00000297183.6 + 1 210 c.86C>T c.(85-87)tCg>tTg p.S29L ANKHD1_ENST00000360839.2_Missense_Mutation_p.S29L|ANKHD1_ENST00000394722.3_Missense_Mutation_p.S29L|ANKHD1_ENST00000394723.3_Missense_Mutation_p.S29L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S29L NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGGGGCCTCGGAGCCGCCT 0.726000 7 27 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45542754 45542754 + Missense_Mutation SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:45542754A>G ENST00000361462.2 + 20 5495 c.5312A>G c.(5311-5313)aAt>aGt p.N1771S FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Missense_Mutation_p.N1718S Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 1718 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 ACAATTTTAAATGAATTATGA 0.338000 10 13 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61190283 61190283 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:61190283C>G ENST00000216513.4 - 1 569 c.510G>C c.(508-510)gaG>gaC p.E170D NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 170 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) AGCTGTGGCTCTCGAGGATGC 0.692000 14 13 0 0 1 0 0 BTD 686 broad.mit.edu 37 3 15686777 15686777 + Nonsense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:15686777G>T ENST00000383778.4 + 4 1712 c.1354G>T c.(1354-1356)Gga>Tga p.G452* BTD_ENST00000449107.1_Nonsense_Mutation_p.G474*|BTD_ENST00000303498.5_Nonsense_Mutation_p.G472*|BTD_ENST00000437172.1_Nonsense_Mutation_p.G474* P43251 BTD_HUMAN biotinidase 472 central nervous system development|epidermis development|nitrogen compound metabolic process extracellular space biotin carboxylase activity|biotinidase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 18 CGACACCTGTGGACAGGAAAT 0.517000 34 91 9.04072e-19 9.75321e-19 1 1 0 CLSTN1 22883 broad.mit.edu 37 1 9791371 9791371 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:9791371G>A ENST00000377298.4 - 18 3433 c.2641C>T c.(2641-2643)Cgg>Tgg p.R881W CLSTN1_ENST00000361311.4_Missense_Mutation_p.R871W|CLSTN1_ENST00000377288.3_Missense_Mutation_p.R862W|CLSTN1_ENST00000477264.1_5'UTR NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 881 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GCCCGGATCCGAAATACCCCC 0.612000 28 90 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529877 80529877 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:80529877G>A ENST00000295057.3 - 2 1724 c.1068C>T c.(1066-1068)gcC>gcT p.A356A CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.A356A|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 356 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 AGGCGTACACGGCGTCCAGGA 0.682000 HNSCC(69;0.2) 6 28 0 0 1 0 0 PGM5 5239 broad.mit.edu 37 9 71002428 71002428 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:71002428C>G ENST00000396396.1 + 4 850 c.621C>G c.(619-621)atC>atG p.I207M PGM5_ENST00000396392.1_Missense_Mutation_p.I207M|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 207 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 TTCGGACCATCTTTGACTTTC 0.428000 31 101 0 0 1 0 0 OLIG1 116448 broad.mit.edu 37 21 34442897 34442897 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:34442897G>A ENST00000382348.1 + 1 448 c.345G>A c.(343-345)cgG>cgA p.R115R AP000282.2_ENST00000420356.1_RNA|AP000282.2_ENST00000454622.1_RNA|OLIG1_ENST00000333063.5_Silent_p.R99R NM_138983.2 NP_620450.2 Q8TAK6 OLIG1_HUMAN oligodendrocyte transcription factor 1 115 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding central_nervous_system(1) 1 GCCGCGAGCGGAAGCGCATGC 0.741000 5 19 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101198225 101198225 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:101198225G>A ENST00000294728.2 + 7 1878 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K VCAM1_ENST00000347652.2_Missense_Mutation_p.E501K|VCAM1_ENST00000370115.1_Missense_Mutation_p.E394K|VCAM1_ENST00000370119.4_Missense_Mutation_p.E531K NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 593 Ig-like C2-type 6. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) AAAGGAAGTGGAATTAATTAT 0.348000 32 106 0 0 1 0 0 SATL1 340562 broad.mit.edu 37 X 84363898 84363898 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:84363898G>C ENST00000509231.1 - 1 156 c.77C>G c.(76-78)tCa>tGa p.S26* SATL1_ENST00000395409.3_5'UTR|SATL1_ENST00000332921.5_5'UTR Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 81 Gln-rich. N-acetyltransferase activity NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1) 29 CATACCAAGTGAGTTTGTGCT 0.458000 OREG0019887 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 34 0 0 1 0 0 ECHDC2 55268 broad.mit.edu 37 1 53377416 53377416 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:53377416C>T ENST00000536120.1 - 5 847 c.30G>A c.(28-30)ttG>ttA p.L10L ECHDC2_ENST00000358358.5_Silent_p.L56L|ECHDC2_ENST00000541281.1_Silent_p.L10L|ECHDC2_ENST00000371522.4_Silent_p.L56L|ECHDC2_ENST00000480312.2_5'UTR Q86YB7 ECHD2_HUMAN enoyl CoA hydratase domain containing 2 56 fatty acid metabolic process mitochondrion lyase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 12 AGACATTCCCCAAGGCATTGC 0.577000 22 62 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175750 118175750 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:118175750C>G ENST00000427715.2 + 9 1097 c.663C>G c.(661-663)ttC>ttG p.F221L SLC30A8_ENST00000519688.1_Missense_Mutation_p.F221L|SLC30A8_ENST00000456015.2_Missense_Mutation_p.F270L|SLC30A8_ENST00000521243.1_Missense_Mutation_p.F221L NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 270 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) TAAAGGACTTCTCCATCTTAC 0.413000 26 49 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258439 16258439 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:16258439C>T ENST00000375759.3 + 11 5908 c.5704C>T c.(5704-5706)Cgg>Tgg p.R1902W NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1902 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AACAAGGCGCCGGAATGTAAG 0.502000 32 87 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1642821 1642821 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:1642821G>C ENST00000399682.1 - 1 547 c.503C>G c.(502-504)tCa>tGa p.S168* NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 228 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACAACCTGAGGAGGAGCA 0.617000 89 254 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114823652 114823652 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:114823652G>A ENST00000315366.7 - 2 2444 c.1578C>T c.(1576-1578)ttC>ttT p.F526F ARSJ_ENST00000541197.1_Silent_p.F526F NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 526 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) CAGTTTTGTTGAACTGTGAGA 0.512000 13 38 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089178 12089178 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:12089178C>G ENST00000343949.5 + 4 603 c.448C>G c.(448-450)Caa>Gaa p.Q150E ZNF763_ENST00000545530.1_Missense_Mutation_p.Q25E|ZNF763_ENST00000592625.1_3'UTR|ZNF763_ENST00000538752.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000590798.1_Missense_Mutation_p.Q167E|ZNF763_ENST00000358987.3_Missense_Mutation_p.Q147E NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 ATATAAGTGTCAACAACCTAA 0.413000 51 176 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11559946 11559946 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:11559946G>A ENST00000252455.2 + 16 1732 c.1396G>A c.(1396-1398)Gag>Aag p.E466K PRKCSH_ENST00000587327.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000592741.1_Missense_Mutation_p.E473K|PRKCSH_ENST00000591462.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000412601.1_Missense_Mutation_p.E463K|PRKCSH_ENST00000589838.1_Missense_Mutation_p.E466K NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 466 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CATGAAGTATGAGCAAGGCAC 0.682000 25 65 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107834330 107834330 + Missense_Mutation SNP G G A rs104886099 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:107834330G>A ENST00000328300.6 + 20 1452 c.1208G>A c.(1207-1209)gGa>gAa p.G403E COL4A5_ENST00000361603.2_Missense_Mutation_p.G403E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 403 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGATTTCCTGGAGAAAGGGGT 0.502000 Alport syndrome with Diffuse Leiomyomatosis 22 65 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 167760287 167760287 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:167760287G>C ENST00000409195.1 + 2 384 c.295G>C c.(295-297)Gat>Cat p.D99H XIRP2_ENST00000420519.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409728.1_Missense_Mutation_p.D99H|XIRP2_ENST00000409756.2_Missense_Mutation_p.D99H|XIRP2_ENST00000409043.1_Missense_Mutation_p.D99H|XIRP2_ENST00000295237.9_Missense_Mutation_p.D99H NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 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 GCTGAAGGAGGATTCCCTGAG 0.512000 15 59 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118175734 118175734 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:118175734C>G ENST00000427715.2 + 9 1081 c.647C>G c.(646-648)aCt>aGt p.T216S SLC30A8_ENST00000519688.1_Missense_Mutation_p.T216S|SLC30A8_ENST00000456015.2_Missense_Mutation_p.T265S|SLC30A8_ENST00000521243.1_Missense_Mutation_p.T216S NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 265 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGCACCATCACTATCTTAAAG 0.403000 29 55 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167753614 167753614 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:167753614G>A ENST00000239587.5 + 3 314 c.226G>A c.(226-228)Gaa>Aaa p.E76K NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 76 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTTGATGGCGGAAGATGAACC 0.502000 20 66 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99516950 99516950 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:99516950G>C ENST00000355947.2 - 1 204 c.75C>G c.(73-75)atC>atG p.I25M TRIM4_ENST00000349062.2_Missense_Mutation_p.I25M|TRIM4_ENST00000354241.5_Missense_Mutation_p.I25M NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 25 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) GGCCGCACTCGATGGACACCG 0.687000 3 9 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93540504 93540504 + Silent SNP C C G rs141696596 by1000genomes TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:93540504C>G ENST00000394196.4 + 30 4824 c.3756C>G c.(3754-3756)gtC>gtG p.V1252V CHD2_ENST00000557381.1_Silent_p.V1252V NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1252 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCTGTCGTGTCAAAGCTGCAC 0.388000 15 58 0 0 1 0 0 CD59 966 broad.mit.edu 37 11 33738937 33738937 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:33738937C>T ENST00000395850.3 - 3 223 c.148G>A c.(148-150)Gcg>Acg p.A50T CD59_ENST00000415002.2_Missense_Mutation_p.A50T|CD59_ENST00000528700.1_Missense_Mutation_p.A50T|CD59_ENST00000534312.1_Missense_Mutation_p.A50T|CD59_ENST00000527577.1_Missense_Mutation_p.A50T|CD59_ENST00000533403.1_Missense_Mutation_p.A50T|CD59_ENST00000437761.2_Missense_Mutation_p.A50T|CD59_ENST00000426650.2_Missense_Mutation_p.A50T|CD59_ENST00000445143.2_Missense_Mutation_p.A50T|CD59_ENST00000351554.3_Missense_Mutation_p.A50T NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2 NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1 P13987 CD59_HUMAN CD59 molecule, complement regulatory protein 50 UPAR/Ly6. blood coagulation|cell surface receptor linked signaling pathway anchored to external side of plasma membrane|extracellular region|membrane fraction endometrium(1)|lung(2) 3 ATGAGACACGCATCAAAATCA 0.448000 8 18 0 0 1 0 0 JADE3 9767 broad.mit.edu 37 X 46915517 46915517 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:46915517G>C ENST00000218343.4 + 10 1775 c.1477G>C c.(1477-1479)Gag>Cag p.E493Q PHF16_ENST00000397189.1_Missense_Mutation_p.E493Q NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 493 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 AAGCAGACGAGAGAAGCTGAA 0.398000 11 36 0 0 1 0 0 ZNF300P1 134466 broad.mit.edu 37 5 150322223 150322223 + RNA SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:150322223C>G ENST00000520773.1 - 0 1261 GCCACATCCTCAAATGACACT 0.453000 13 71 0 0 1 0 0 RNF13 11342 broad.mit.edu 37 3 149678610 149678610 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:149678610C>G ENST00000344229.3 + 11 1567 c.865C>G c.(865-867)Caa>Gaa p.Q289E RNF13_ENST00000361785.6_Missense_Mutation_p.Q170E|RNF13_ENST00000392894.3_Missense_Mutation_p.Q289E NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 289 protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TGTTCCTTCTCAAGGCGATTC 0.423000 22 71 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48320414 48320414 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:48320414C>G ENST00000376876.3 - 10 1593 c.750G>C c.(748-750)caG>caC p.Q250H SLC38A5_ENST00000376875.1_Missense_Mutation_p.Q199H|SLC38A5_ENST00000317669.5_Missense_Mutation_p.Q250H Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 250 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 CTGTGAACATCTGGGCCTCAC 0.532000 6 35 0 0 1 0 0 CST4 1472 broad.mit.edu 37 20 23669456 23669456 + Missense_Mutation SNP C C T rs150280233 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:23669456C>T ENST00000217423.3 - 1 221 c.151G>A c.(151-153)Gcc>Acc p.A51T NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 51 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) TCGCTGATGGCGAAGTGAAGG 0.592000 19 61 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71347025 71347025 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:71347025C>A ENST00000413702.1 + 4 852 c.564C>A c.(562-564)acC>acA p.T188T MUC7_ENST00000304887.5_Silent_p.T188T|MUC7_ENST00000456088.1_Silent_p.T188T NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 188 Thr-rich. extracellular region protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) CACCAGAGACCACAGCTGCCC 0.587000 48 141 4.00472e-15 4.2754e-15 1 1 0 KRT78 196374 broad.mit.edu 37 12 53238402 53238402 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:53238402G>A ENST00000359499.4 - 5 543 c.532C>T c.(532-534)Cgg>Tgg p.R178W KRT78_ENST00000304620.4_Missense_Mutation_p.R288W Q8N1N4 K2C78_HUMAN keratin 78 288 Coil 1B.|Rod. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 TCCTCGTACCGGGCGCGGACC 0.632000 4 101 0 0 1 0 0 SIK3 23387 broad.mit.edu 37 11 116767027 116767027 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:116767027C>G ENST00000375300.1 - 6 812 c.807G>C c.(805-807)caG>caC p.Q269H SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Q110H|SIK3_ENST00000446921.2_Missense_Mutation_p.Q269H|SIK3_ENST00000292055.4_Missense_Mutation_p.Q211H|SIK3_ENST00000542607.1_Missense_Mutation_p.Q211H Q9Y2K2 SIK3_HUMAN SIK family kinase 3 211 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 CCCGCAGATTCTGCAGTGTGC 0.507000 31 88 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48465367 48465367 + Silent SNP G G A rs140603920 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:48465367G>A ENST00000358536.4 - 3 923 c.654C>T c.(652-654)ttC>ttT p.F218F PLXNB1_ENST00000358459.4_Silent_p.F218F|PLXNB1_ENST00000296440.6_Silent_p.F218F|PLXNB1_ENST00000456774.1_Silent_p.F218F|PLXNB1_ENST00000448774.2_Intron NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 218 Sema. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGCACTCACGAAGTGGTGGC 0.632000 15 33 0 0 1 0 0 KPNA1 3836 broad.mit.edu 37 3 122172742 122172742 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:122172742G>C ENST00000344337.6 - 6 715 c.539C>G c.(538-540)tCa>tGa p.S180* KPNA1_ENST00000466923.1_5'UTR NM_002264.3 NP_002255.3 P52294 IMA1_HUMAN karyopherin alpha 1 (importin alpha 5) 180 NLS binding site (major) (By similarity). DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 21 GBM - Glioblastoma multiforme(114;0.0898) TTCAAACTCTGAGCTGAGCAA 0.443000 15 41 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342197 60342197 + RNA SNP T T C rs76635225 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:60342197T>C ENST00000581291.1 - 0 1956 breast(2)|kidney(1)|lung(2) 5 TGGGAGGGGCTGGGCATGGTT 0.488000 3 28 0 0 1 0 0 TDRKH 11022 broad.mit.edu 37 1 151754022 151754022 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:151754022C>G ENST00000368822.1 - 3 799 c.166G>C c.(166-168)Gag>Cag p.E56Q TDRKH_ENST00000368823.1_Missense_Mutation_p.E56Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E56Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E56Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368827.6_Missense_Mutation_p.E56Q Q9Y2W6 TDRKH_HUMAN tudor and KH domain containing 56 KH 1. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACCCGCATCTCTATCTCAATG 0.463000 18 65 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32915015 32915015 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:32915015G>C ENST00000544455.1 + 11 6750 c.6523G>C c.(6523-6525)Gag>Cag p.E2175Q BRCA2_ENST00000380152.3_Missense_Mutation_p.E2175Q NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2175 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTCACTTGTTGAGAACATTCA 0.323000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 10 28 0 0 1 0 0 KIAA1522 57648 broad.mit.edu 37 1 33237349 33237349 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:33237349C>G ENST00000401073.2 + 6 2639 c.2569C>G c.(2569-2571)Cag>Gag p.Q857E KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.Q809E|KIAA1522_ENST00000373480.1_Missense_Mutation_p.Q798E NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 798 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAAGCTCCCTCAGAAGGAACC 0.682000 11 31 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120954375 120954375 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:120954375C>G ENST00000288532.6 - 3 609 c.569G>C c.(568-570)aGa>aCa p.R190T COQ5_ENST00000445328.2_Intron NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 190 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCACCAGCTCTGTATCCTTG 0.428000 96 321 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58718244 58718244 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:58718244G>C ENST00000326804.4 + 5 873 c.414G>C c.(412-414)ctG>ctC p.L138L ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Silent_p.L106L|ZNF274_ENST00000424679.2_Silent_p.L33L NM_133502.1 NP_598009.1 Q96GC6 ZN274_HUMAN zinc finger protein 274 138 viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) ATGGAAGCCTGAGTGCAGATG 0.577000 8 22 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14334318 14334318 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:14334318G>C ENST00000571589.1 + 10 1228 c.1056G>C c.(1054-1056)caG>caC p.Q352H MKL2_ENST00000341243.5_Missense_Mutation_p.Q341H|MKL2_ENST00000318282.5_Missense_Mutation_p.Q352H|MKL2_ENST00000572567.1_Missense_Mutation_p.Q341H|MKL2_ENST00000573051.1_Missense_Mutation_p.Q301H|MKL2_ENST00000574045.1_Missense_Mutation_p.Q352H NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 341 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACAACTACCAGACCATCCTGC 0.527000 21 102 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38401877 38401877 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:38401877C>G ENST00000207870.3 + 3 278 c.188C>G c.(187-189)tCt>tGt p.S63C XYLB_ENST00000542835.1_Intron NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 63 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) ACGGTCACTTCTCCAGTACTA 0.532000 19 83 0 0 1 0 0 PDC 5132 broad.mit.edu 37 1 186418543 186418543 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:186418543C>T ENST00000391997.2 - 2 136 c.49G>A c.(49-51)Gcc>Acc p.A17T PDC_ENST00000340129.5_Missense_Mutation_p.A17T NM_002597.4 NP_002588.3 P20941 PHOS_HUMAN phosducin 17 G-protein coupled receptor protein signaling pathway|phototransduction|visual perception actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment phospholipase inhibitor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 Breast(1374;1.53e-05) KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129) GTATGTGTGGCCTGTCCTTCA 0.313000 22 42 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129785590 129785590 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:129785590G>C ENST00000421865.2 + 50 7197 c.7148G>C c.(7147-7149)cGa>cCa p.R2383P NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2383 Laminin G-like 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CTTGCCACACGAGACCTGGTA 0.408000 50 140 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7412996 7412996 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:7412996C>T ENST00000399429.3 - 32 2681 c.2541G>A c.(2539-2541)gaG>gaA p.E847E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 847 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TAGCCACCTTCTCCACCTTAT 0.483000 26 59 0 0 1 0 0 SLC39A7 7922 broad.mit.edu 37 6 33170440 33170440 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:33170440G>C ENST00000374677.3 + 5 1276 c.903G>C c.(901-903)gtG>gtC p.V301V SLC39A7_ENST00000374675.3_Silent_p.V301V|SLC39A7_ENST00000463972.1_3'UTR NM_006979.2 NP_008910.2 Q92504 S39A7_HUMAN solute carrier family 39 (zinc transporter), member 7 301 endoplasmic reticulum membrane|integral to membrane|membrane fraction protein binding|zinc ion transmembrane transporter activity NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 ATGGGCCAGTGAGACCTCAGA 0.478000 15 33 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144875972 144875972 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:144875972C>G ENST00000367545.3 + 48 7077 c.7077C>G c.(7075-7077)ctC>ctG p.L2359L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2359 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AGGCTCGACTCTATATTCTTC 0.418000 11 48 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105075066 105075066 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:105075066C>G ENST00000428173.2 + 2 380 c.77C>G c.(76-78)tCa>tGa p.S26* NRK_ENST00000536164.1_Nonsense_Mutation_p.S26*|NRK_ENST00000243300.9_Nonsense_Mutation_p.S26* Q7Z2Y5 NRK_HUMAN Nik related kinase 26 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 GGAATATTCTCACTAGATAAA 0.274000 HNSCC(51;0.14) 16 68 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 5 61 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043451 74043451 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:74043451G>C ENST00000409561.1 + 3 2222 c.2101G>C c.(2101-2103)Gag>Cag p.E701Q NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 701 p.E701Q(1)|p.E671Q(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TGCTGAAAAAGAGTGTACATC 0.493000 27 103 0 0 1 0 0 VTCN1 79679 broad.mit.edu 37 1 117699237 117699237 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:117699237G>C ENST00000369458.3 - 3 482 c.404C>G c.(403-405)tCt>tGt p.S135C VTCN1_ENST00000359008.4_Missense_Mutation_p.S138C|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000539893.1_Missense_Mutation_p.S40C NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 135 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) CTTGCCTTTAGAAGTGATGAT 0.403000 17 69 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53992089 53992089 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:53992089G>A ENST00000396328.1 - 13 1862 c.1623C>T c.(1621-1623)ctC>ctT p.L541L WDR72_ENST00000557913.1_Silent_p.L538L|WDR72_ENST00000559418.1_Silent_p.L551L|WDR72_ENST00000360509.5_Silent_p.L541L NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 541 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CAAGGTGAAGGAGAGCCACGG 0.443000 35 118 0 0 1 0 0 SIRT2 22933 broad.mit.edu 37 19 39369868 39369868 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:39369868G>A ENST00000249396.7 - 16 1398 c.1097C>T c.(1096-1098)tCa>tTa p.S366L SIRT2_ENST00000392081.2_Missense_Mutation_p.S329L|SIRT2_ENST00000358931.5_3'UTR NM_012237.3 NP_036369.2 Q8IXJ6 SIRT2_HUMAN sirtuin 2 366 cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state chromatin silencing complex|cytoplasm|microtubule histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|skin(1) 9 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191) GGGGGAAGCTGAAGTGCTGGG 0.647000 15 40 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10443927 10443927 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:10443927G>A ENST00000397077.1 - 6 1078 c.503C>T c.(502-504)aCg>aTg p.T168M ATP2B2_ENST00000383800.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T168M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T168M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T168M Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 168 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 ATTGAAGGCCGTGACCAGGAC 0.612000 67 238 0 0 1 0 0 ZNF675 171392 broad.mit.edu 37 19 23836960 23836960 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:23836960C>T ENST00000359788.4 - 4 943 c.775G>A c.(775-777)Gaa>Aaa p.E259K ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron NM_138330.2 NP_612203.2 Q8TD23 ZN675_HUMAN zinc finger protein 675 259 bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CCACATTCTTCACATTTGTAT 0.358000 26 45 0 0 1 0 0 NDUFB9 4715 broad.mit.edu 37 8 125555355 125555355 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:125555355G>C ENST00000522532.1 + 2 176 c.129G>C c.(127-129)ttG>ttC p.L43F NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000518008.1_Missense_Mutation_p.L43F|NDUFB9_ENST00000276689.3_Missense_Mutation_p.L43F Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 43 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) TTGCTTGTTTGATGAGAGCCC 0.448000 18 48 0 0 1 0 0 DBX1 120237 broad.mit.edu 37 11 20178619 20178619 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:20178619C>G ENST00000524983.2 - 3 924 c.636G>C c.(634-636)aaG>aaC p.K212N DBX1_ENST00000227256.3_Missense_Mutation_p.K212N A6NMT0 DBX1_HUMAN developing brain homeobox 1 212 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K212N(1) endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 CCGCCAGCTTCTTGCGGTCGG 0.667000 10 44 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13721250 13721250 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:13721250G>C ENST00000265104.4 - 71 12242 c.12138C>G c.(12136-12138)atC>atG p.I4046M NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4046 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACAGGAGACAGATGAGTGGCG 0.498000 Kartagener syndrome 32 90 0 0 1 0 0 FAM222A 84915 broad.mit.edu 37 12 110206655 110206655 + Silent SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:110206655G>T ENST00000538780.1 + 3 1637 c.921G>T c.(919-921)acG>acT p.T307T FAM222A-AS1_ENST00000541460.1_RNA|FAM222A_ENST00000358906.3_Silent_p.T307T|FAM222A-AS1_ENST00000541723.1_RNA NM_032829.2 NP_116218.2 Q5U5X8 CL034_HUMAN family with sequence similarity 222, member A 307 GTGGGAGCACGGTGGCCAGCA 0.706000 3 3 6.4e-05 6.47499e-05 1 1 0 SCNN1B 6338 broad.mit.edu 37 16 23383141 23383141 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:23383141G>A ENST00000343070.2 + 7 1265 c.1089G>A c.(1087-1089)gtG>gtA p.V363V SCNN1B_ENST00000568923.1_Silent_p.V336V|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000307331.5_Silent_p.V408V NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 363 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CGTGCACCGTGAATGGTTCTG 0.602000 33 133 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856156 54856156 + Nonsense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:54856156G>T ENST00000333896.5 + 13 2231 c.1846G>T c.(1846-1848)Gag>Tag p.E616* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.E629* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 629 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GCTGGCGGCTGAGCGCAGGGC 0.577000 47 123 2.46787e-29 2.71466e-29 1 1 0 SRCIN1 80725 broad.mit.edu 37 17 36704828 36704828 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:36704828C>T ENST00000264659.7 - 17 3459 c.3235G>A c.(3235-3237)Gag>Aag p.E1079K SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.E1113K NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 951 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCGTCATCCTCGTCCTTGATG 0.672000 28 71 0 0 1 0 0 PNO1 56902 broad.mit.edu 37 2 68385190 68385190 + Missense_Mutation SNP G G A rs61735656 byFrequency TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:68385190G>A ENST00000263657.2 + 1 215 c.124G>A c.(124-126)Ggg>Agg p.G42R NM_020143.2 NP_064528.1 Q9NRX1 PNO1_HUMAN partner of NOB1 homolog (S. cerevisiae) 42 nucleolus RNA binding endometrium(1)|large_intestine(1)|lung(2) 4 AGGAGAGGGCGGGGATGCGGG 0.692000 10 35 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61828923 61828923 + Missense_Mutation SNP A A T rs142931189 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:61828923A>T ENST00000280772.1 - 37 11907 c.11716T>A c.(11716-11718)Tgt>Agt p.C3906S ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3906 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 ACATCTACACATGAAGAAGTA 0.403000 61 170 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29684058 29684058 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:29684058G>A ENST00000358273.4 + 53 8202 c.7819G>A c.(7819-7821)Gaa>Aaa p.E2607K NF1_ENST00000356175.3_Missense_Mutation_p.E2586K|NF1_ENST00000444181.2_Missense_Mutation_p.E400K|NF1_ENST00000417592.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2607 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTCTTGGATGAAGAAGTACT 0.418000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 60 118 0 0 1 0 0 FGR 2268 broad.mit.edu 37 1 27948071 27948071 + Splice_Site SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:27948071C>T ENST00000374005.3 - 5 715 c.428_splice c.e5+1 p.E143_splice FGR_ENST00000399173.1_Splice_Site_p.E143_splice|FGR_ENST00000374004.1_Splice_Site_p.E143_splice|FGR_ENST00000545953.1_Intron NM_005248.2 NP_005239.1 P09769 FGR_HUMAN feline Gardner-Rasheed sarcoma viral oncogene homolog 143 platelet activation|response to virus cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4) 16 all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCTACTTACTCTTCAGCTTGG 0.567000 10 48 0 0 1 0 0 PTX4 390667 broad.mit.edu 37 16 1536008 1536008 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:1536008C>T ENST00000447419.2 - 3 1394 c.1369G>A c.(1369-1371)Gcc>Acc p.A457T PTX4_ENST00000440447.2_3'UTR|PTX4_ENST00000293922.1_Missense_Mutation_p.A452T Q96A99 PTX4_HUMAN pentraxin 4, long 457 Pentaxin. extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GCAGCATTGGCCAGCGTCAGG 0.637000 12 37 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588340 72588340 + Missense_Mutation SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:72588340A>G ENST00000392620.1 + 3 517 c.155A>G c.(154-156)cAt>cGt p.H52R CD300LD_ENST00000375352.1_Start_Codon_SNP_p.M1T|C17orf77_ENST00000328023.2_Missense_Mutation_p.H52R NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 52 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 GGACAGCCACATGGTCCTGTC 0.562000 22 43 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74054047 74054047 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:74054047C>G ENST00000298198.4 - 11 1636 c.1325G>C c.(1324-1326)gGa>gCa p.G442A NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 442 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) AACTGAAGTTCCACAGAGAAA 0.383000 26 81 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99568511 99568511 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:99568511G>A ENST00000331335.5 - 5 2479 c.2009C>T c.(2008-2010)gCt>gTt p.A670V FILIP1L_ENST00000354552.3_Missense_Mutation_p.A670V|FILIP1L_ENST00000487087.1_Missense_Mutation_p.A246V|CMSS1_ENST00000421999.2_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.A430V|FILIP1L_ENST00000383694.2_Missense_Mutation_p.A430V NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 670 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TAAAAATTGAGCTTTGTCTCG 0.373000 24 72 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23417451 23417451 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:23417451C>G ENST00000307149.5 - 12 1793 c.1608G>C c.(1606-1608)caG>caC p.Q536H NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 536 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GGTTATCTTTCTGGAGGTAAT 0.433000 57 130 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81591337 81591337 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:81591337C>T ENST00000356860.3 - 36 3177 c.2839G>A c.(2839-2841)Gag>Aag p.E947K CACNA2D1_ENST00000356253.5_Missense_Mutation_p.E959K|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.E159K NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 959 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TCCTCCATCTCAACTTGGGTG 0.478000 16 32 0 0 1 0 0 TAF6L 10629 broad.mit.edu 37 11 62543912 62543912 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:62543912C>A ENST00000294168.3 + 3 405 c.204C>A c.(202-204)ttC>ttA p.F68L TMEM223_ENST00000527073.1_Intron NM_006473.3 NP_006464.1 Q9Y6J9 TAF6L_HUMAN TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa 68 chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent histone deacetylase complex|STAGA complex DNA binding|protein binding|transcription coactivator activity endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1) 16 TTGAGGACTTCAACAGGGCCC 0.572000 19 51 3.32936e-07 3.41245e-07 1 1 0 KIF13A 63971 broad.mit.edu 37 6 17772181 17772181 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:17772181C>T ENST00000378814.5 - 36 4394 c.4395G>A c.(4393-4395)aaG>aaA p.K1465K KIF13A_ENST00000259711.6_Silent_p.K1478K|KIF13A_ENST00000378826.2_Silent_p.K1478K|KIF13A_ENST00000378816.5_Silent_p.K1478K|KIF13A_ENST00000378843.2_Silent_p.K1465K NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1478 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTATCCTTTTCTTATGCTCCT 0.463000 107 217 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388538 48388538 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:48388538G>A ENST00000224600.4 - 1 2453 c.2340C>T c.(2338-2340)atC>atT p.I780I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 780 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGCGCAGGTCGATCACCAGCG 0.612000 13 32 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121766480 121766480 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:121766480C>G ENST00000393376.1 - 3 516 c.421G>C c.(421-423)Gat>Cat p.D141H AASS_ENST00000417368.2_Missense_Mutation_p.D141H|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 141 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCTCTATGATCCACCATTTTC 0.408000 60 198 0 0 1 0 0 CNOT1 23019 broad.mit.edu 37 16 58581184 58581184 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:58581184G>A ENST00000317147.5 - 27 3988 c.3656C>T c.(3655-3657)tCa>tTa p.S1219L CNOT1_ENST00000245138.4_Missense_Mutation_p.S70L|CNOT1_ENST00000569240.1_Missense_Mutation_p.S1214L|CNOT1_ENST00000441024.2_Missense_Mutation_p.S1219L NM_001265612.1|NM_016284.4 NP_001252541.1|NP_057368.3 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1219 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TAGCAGCAATGATTTCACATC 0.378000 24 75 0 0 1 0 0 MDGA1 266727 broad.mit.edu 37 6 37606334 37606334 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:37606334G>A ENST00000434837.2 - 15 3824 c.2646C>T c.(2644-2646)atC>atT p.I882I MDGA1_ENST00000297153.7_Silent_p.I886I|MDGA1_ENST00000505425.1_Silent_p.I882I NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 882 MAM. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 CACTGGGGCTGATGGGCACAT 0.627000 24 68 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205589294 205589294 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:205589294C>T ENST00000357992.4 - 3 1219 c.880G>A c.(880-882)Gag>Aag p.E294K ELK4_ENST00000289703.4_Missense_Mutation_p.E294K NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GACAAATTCTCTGGAAGTTCC 0.443000 T SLC45A3 prostate 56 134 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56895260 56895260 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:56895260C>T ENST00000301310.4 - 5 1684 c.1526G>A c.(1525-1527)gGa>gAa p.G509E ZNF582_ENST00000586929.1_Missense_Mutation_p.G509E NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) CCCATTACTTCCATTCATATG 0.398000 43 86 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40626086 40626086 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:40626086C>G ENST00000298910.7 + 3 306 c.248C>G c.(247-249)tCa>tGa p.S83* LRRK2_ENST00000343742.2_Nonsense_Mutation_p.S83* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 83 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GTGGGTTGGTCACTTCTGTGC 0.388000 18 47 0 0 1 0 0 GAL 51083 broad.mit.edu 37 11 68455511 68455511 + Missense_Mutation SNP G G A rs149894151 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:68455511G>A ENST00000265643.3 + 4 424 c.166G>A c.(166-168)Gac>Aac p.D56N NM_015973.3 NP_057057.2 P22466 GALA_HUMAN galanin/GMAP prepropeptide 56 growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction extracellular region neuropeptide hormone activity lung(4) 4 Esophageal squamous(3;7.33e-10) Melanoma(852;0.0749) LUAD - Lung adenocarcinoma(13;0.0514) Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154) GTCATTCAGCGACAAGAATGG 0.592000 12 48 0 0 1 0 0 ARL13A 392509 broad.mit.edu 37 X 100240808 100240808 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:100240808G>A ENST00000450049.2 + 4 396 c.283G>A c.(283-285)Gtc>Atc p.V95I NM_001162491.1 NP_001155963.1 Q5H913 AR13A_HUMAN ADP-ribosylation factor-like 13A 95 GTP binding endometrium(1)|ovary(1) 2 GCTTGTTTTCGTCCTGGATTC 0.468000 14 42 0 0 1 0 0 TM4SF18 116441 broad.mit.edu 37 3 149042734 149042734 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:149042734G>C ENST00000296059.2 - 4 608 c.343C>G c.(343-345)Ctt>Gtt p.L115V TM4SF18_ENST00000470080.1_Missense_Mutation_p.L115V|RP11-206M11.7_ENST00000489011.1_RNA NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 115 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CCTTGGACAAGACCCAAGGCA 0.473000 15 44 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32133980 32133980 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:32133980G>A ENST00000395512.1 + 2 143 c.38G>A c.(37-39)gGa>gAa p.G13E PPT2_ENST00000437001.2_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.G13E|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 13 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CTCTTAGGCGGATTCTCCTTC 0.597000 23 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179485937 179485937 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:179485937C>T ENST00000589042.1 - 246 45732 c.45508G>A c.(45508-45510)Gat>Aat p.D15170N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6230N|TTN_ENST00000460472.2_Missense_Mutation_p.D6105N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12602N|TTN_ENST00000591111.1_Missense_Mutation_p.D13529N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6297N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13529 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) TTTTTACCATCAGCAATAACG 0.443000 17 33 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892385 2892385 + Missense_Mutation SNP G G C rs142546371 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:2892385G>C ENST00000254528.3 + 4 2419 c.2260G>C c.(2260-2262)Gac>Cac p.D754H NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 754 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GCATTCCAGAGACATTTCTGG 0.488000 26 46 0 0 1 0 0 UBXN10 127733 broad.mit.edu 37 1 20517146 20517146 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:20517146C>A ENST00000375099.3 + 2 176 c.92C>A c.(91-93)tCa>tAa p.S31* NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 31 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 CAGCCAAACTCACTAAATATG 0.522000 37 87 9.04072e-19 9.75321e-19 1 1 0 HLA-B 3106 broad.mit.edu 37 6 31324862 31324862 + Splice_Site SNP C C G rs45624240 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31324862C>G ENST00000412585.2 - 1 102 c.e1+1 NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CCCGCACTCACCGGCCCAGGT 0.731000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 24 10 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44791652 44791652 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:44791652G>A ENST00000291182.4 - 5 2038 c.1936C>T c.(1936-1938)Cag>Tag p.Q646* ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) TGAATTATCTGATGGACTTGA 0.468000 44 112 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13333884 13333884 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:13333884C>G ENST00000396920.3 - 5 790 c.386G>C c.(385-387)gGa>gCa p.G129A PHYH_ENST00000263038.4_Missense_Mutation_p.G148A|PHYH_ENST00000396913.2_Missense_Mutation_p.G48A O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 148 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) AATATTAGGTCCAGTGAAGCA 0.333000 16 25 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32046848 32046848 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:32046848C>T ENST00000375244.3 - 11 4538 c.4337G>A c.(4336-4338)gGg>gAg p.G1446E TNXB_ENST00000375247.2_Missense_Mutation_p.G1446E P22105 TENX_HUMAN tenascin XB 1533 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CACGCGCTGCCCCTCGTGGAG 0.687000 55 24 0 0 1 0 0 LINGO2 158038 broad.mit.edu 37 9 27949403 27949403 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:27949403C>T ENST00000379992.2 - 6 1716 c.1267G>A c.(1267-1269)Gat>Aat p.D423N LINGO2_ENST00000308675.3_Missense_Mutation_p.D423N NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 423 Ig-like C2-type. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TGCCCTTCATCTACTAGCAGA 0.483000 26 71 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86057663 86057663 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:86057663G>C ENST00000414626.2 + 18 3845 c.2956G>C c.(2956-2958)Gaa>Caa p.E986Q LRRCC1_ENST00000360375.3_Missense_Mutation_p.E1006Q Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 1006 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 ACTTTTGGAAGAAACATGCAA 0.274000 5 17 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139412344 139412344 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:139412344C>A ENST00000277541.6 - 8 1376 c.1301G>T c.(1300-1302)gGc>gTc p.G434V NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 434 EGF-like 11; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTCGAAGGAGCCCAGCGTGTT 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 22 46 1.10513e-12 1.17171e-12 1 1 0 ANKH 56172 broad.mit.edu 37 5 14713736 14713736 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:14713736C>A ENST00000284268.6 - 10 1512 c.1182G>T c.(1180-1182)ctG>ctT p.L394L ANKH_ENST00000535119.1_Silent_p.L196L NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 394 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGGTTTTCTTCAGTGTCATCA 0.607000 11 55 0.000673444 0.000680068 1 1 0 OR2T1 26696 broad.mit.edu 37 1 248570303 248570303 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:248570303C>T ENST00000366474.1 + 1 1008 c.1008C>T c.(1006-1008)aaC>aaT p.N336N NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 336 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCATGCTGAACCCCCTCATCT 0.522000 61 140 0 0 1 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513625 142513625 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:142513625G>A ENST00000378004.3 + 19 2147 c.1792G>A c.(1792-1794)Gag>Aag p.E598K ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E598K NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 598 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTCCTGCAGCGAGAGGCCCCT 0.562000 53 111 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5222967 5222967 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:5222967C>T ENST00000372412.4 - 18 3072 c.2839G>A c.(2839-2841)Gtc>Atc p.V947I PTPRS_ENST00000588012.1_Missense_Mutation_p.V924I|PTPRS_ENST00000357368.4_Missense_Mutation_p.V946I|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000348075.2_Missense_Mutation_p.V924I|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000262963.6_Missense_Mutation_p.V942I|PTPRS_ENST00000587303.1_Missense_Mutation_p.V946I Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 946 Fibronectin type-III 7. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CGGAGAAGGACGGTCCCGGCC 0.746000 3 4 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19278268 19278268 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:19278268C>A ENST00000562034.1 + 6 4910 c.1112C>A c.(1111-1113)tCa>tAa p.S371* SYT17_ENST00000568433.1_Nonsense_Mutation_p.S126*|SYT17_ENST00000562711.2_Nonsense_Mutation_p.S428*|SYT17_ENST00000355377.2_Nonsense_Mutation_p.S432* Q9BSW7 SYT17_HUMAN synaptotagmin XVII 432 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 CAGTACTCTTCAGGCCCCTCT 0.602000 16 36 1.15088e-07 1.18751e-07 1 1 0 KDR 3791 broad.mit.edu 37 4 55953828 55953828 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:55953828T>C ENST00000263923.4 - 27 3903 c.3608A>G c.(3607-3609)gAg>gGg p.E1203G RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1203 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCCTCCTCCTCCATACAGGA 0.488000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 12 47 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34262945 34262945 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:34262945G>A ENST00000262622.3 + 4 1010 c.252G>A c.(250-252)ccG>ccA p.P84P CHST8_ENST00000438847.2_Silent_p.P84P|CHST8_ENST00000434302.1_Silent_p.P84P NM_022467.3 NP_071912.2 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 84 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GTGGGGCCCCGAGGGGCCGCA 0.667000 22 62 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160730 58160730 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:58160730G>C ENST00000228606.4 - 1 304 c.95C>G c.(94-96)tCa>tGa p.S32* RP11-571M6.13_ENST00000546609.1_RNA NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 32 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) CCGGCGTGCTGAGTGGTACTC 0.642000 42 185 0 0 1 0 0 TAMM41 132001 broad.mit.edu 37 3 11871286 11871286 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:11871286C>G ENST00000444133.2 - 4 606 c.464G>C c.(463-465)aGa>aCa p.R155T TAMM41_ENST00000455809.1_Missense_Mutation_p.R155T|TAMM41_ENST00000273037.5_Missense_Mutation_p.R155T Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 155 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane CTTCAGATTTCTATCGAGGGC 0.443000 44 85 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9934940 9934940 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:9934940C>T ENST00000396573.2 - 7 1659 c.1350G>A c.(1348-1350)atG>atA p.M450I GRIN2A_ENST00000330684.3_Missense_Mutation_p.M450I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M450I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M293I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M450I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 450 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCTTCACATTCATCCCCTCAT 0.418000 22 57 0 0 1 0 0 TTF1 7270 broad.mit.edu 37 9 135267530 135267530 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:135267530C>T ENST00000334270.2 - 6 1959 c.1920G>A c.(1918-1920)aaG>aaA p.K640K NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 640 Myb-like 1. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CACCAATCGTCTTCCAGTCAT 0.493000 9 29 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53225148 53225148 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:53225148C>A ENST00000452825.3 - 18 3401 c.2869G>T c.(2869-2871)Gag>Tag p.E957* KDM5C_ENST00000404049.3_Nonsense_Mutation_p.E1023*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.E1024*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.E983*|KDM5C_ENST00000375401.3_Nonsense_Mutation_p.E1024* NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1024 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCAAGAGCCTCCTTGAGAGCC 0.567000 """N, F, S""" clear cell renal carcinoma 7 14 0.0293803 0.0295724 1 1 0 USP48 84196 broad.mit.edu 37 1 22056206 22056206 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:22056206G>A ENST00000308271.9 - 10 1939 c.1291C>T c.(1291-1293)Caa>Taa p.Q431* USP48_ENST00000400301.1_Nonsense_Mutation_p.Q431*|USP48_ENST00000421625.2_Nonsense_Mutation_p.Q431*|USP48_ENST00000529637.1_Nonsense_Mutation_p.Q430* NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 431 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) CCTGGAACTTGAACAGTAGTG 0.373000 20 85 0 0 1 0 0 SEMA3F 6405 broad.mit.edu 37 3 50220147 50220147 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:50220147C>A ENST00000002829.3 + 9 1318 c.834C>A c.(832-834)ttC>ttA p.F278L SEMA3F_ENST00000413852.1_Missense_Mutation_p.F179L|SEMA3F_ENST00000434342.1_Missense_Mutation_p.F247L NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 278 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) TTTACTTCTTCTTCCGTGAGC 0.627000 27 93 5.61819e-17 6.02927e-17 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139413130 139413130 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:139413130C>T ENST00000277541.6 - 6 1087 c.1012G>A c.(1012-1014)Gac>Aac p.D338N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 338 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CTGGCACAGTCATCAATGTTC 0.632000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 28 0 0 1 0 0 RNF149 284996 broad.mit.edu 37 2 101893723 101893723 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:101893723G>A ENST00000295317.3 - 7 1287 c.1180C>T c.(1180-1182)Cgg>Tgg p.R394W NM_173647.3 NP_775918.2 Q8NC42 RN149_HUMAN ring finger protein 149 394 integral to membrane ligase activity|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 CCTCCATGCCGAGAGTCACTC 0.468000 10 24 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32087656 32087656 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:32087656C>T ENST00000438447.1 + 20 4490 c.4102C>T c.(4102-4104)Cat>Tat p.H1368Y PDZD2_ENST00000282493.3_Missense_Mutation_p.H1368Y O15018 PDZD2_HUMAN PDZ domain containing 2 1368 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GACAGGAATCCATGCACCTGA 0.597000 9 34 0 0 1 0 0 DDX23 9416 broad.mit.edu 37 12 49230515 49230515 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:49230515G>C ENST00000308025.3 - 10 1152 c.1073C>G c.(1072-1074)tCt>tGt p.S358C NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 358 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.S358F(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTTTTCTGAGACCAATGACG 0.532000 56 183 0 0 1 0 0 A4GALT 53947 broad.mit.edu 37 22 43089285 43089285 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:43089285G>A ENST00000401850.1 - 2 1162 c.673C>T c.(673-675)Cgc>Tgc p.R225C A4GALT_ENST00000381278.3_Missense_Mutation_p.R225C|A4GALT_ENST00000249005.2_Missense_Mutation_p.R225C Q9NPC4 A4GAT_HUMAN alpha 1,4-galactosyltransferase 225 glycosphingolipid biosynthetic process|plasma membrane organization Golgi stack|integral to Golgi membrane|membrane fraction lactosylceramide 4-alpha-galactosyltransferase activity NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1) 11 TCGTGCCGGCGCTCGAAGGCC 0.637000 16 38 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20619061 20619061 + Splice_Site SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:20619061G>C ENST00000504154.1 + 36 4388 c.e36-1 SLIT2_ENST00000503837.1_Splice_Site|SLIT2_ENST00000503823.1_Splice_Site|SLIT2_ENST00000273739.5_Splice_Site NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CCTCCCTGTAGATGCGTACAT 0.493000 4 27 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183672970 183672970 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:183672970G>A ENST00000511685.1 + 20 3770 c.3647G>A c.(3646-3648)aGa>aAa p.R1216K TENM3_ENST00000406950.2_Missense_Mutation_p.R1216K|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CCAGCTCATAGATACTACCTT 0.428000 31 93 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650102 75650102 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:75650102G>A ENST00000361470.2 + 1 2057 c.1779G>A c.(1777-1779)ctG>ctA p.L593L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 593 MAGE 1. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 AAATATTCCTGAATGGCAACC 0.502000 7 32 0 0 1 0 0 LARP4 113251 broad.mit.edu 37 12 50855032 50855032 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:50855032G>A ENST00000398473.2 + 11 1348 c.1236G>A c.(1234-1236)cgG>cgA p.R412R LARP4_ENST00000518561.1_Silent_p.R342R|LARP4_ENST00000293618.8_Intron|LARP4_ENST00000522085.1_Silent_p.R412R|LARP4_ENST00000429001.3_Silent_p.R418R|LARP4_ENST00000347328.5_Silent_p.R341R|LARP4_ENST00000518444.1_Silent_p.R411R NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 412 nucleotide binding|RNA binding breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 CAGCTGAACGGCATAACCCCA 0.488000 4 134 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33422991 33422991 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:33422991G>A ENST00000395064.2 + 2 382 c.114G>A c.(112-114)ctG>ctA p.L38L NM_152735.3 NP_689948.1 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 38 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TGGAATCTCTGAACCGCCACA 0.587000 44 138 0 0 1 0 0 HCG27 253018 broad.mit.edu 37 6 31170541 31170541 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31170541C>T ENST00000383331.4 + 2 516 c.516C>T c.(514-516)gtC>gtT p.V172V HCG27_ENST00000415276.1_3'UTR TGTCCTCAGTCACCCTCTGAG 0.577000 51 147 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13975371 13975371 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:13975371C>T ENST00000343495.5 - 7 1200 c.462G>A c.(460-462)tcG>tcA p.S154S ETV1_ENST00000242066.5_Silent_p.S154S|ETV1_ENST00000405218.2_Silent_p.S172S|ETV1_ENST00000420159.2_Silent_p.S114S|ETV1_ENST00000403685.1_Silent_p.S154S|ETV1_ENST00000399357.3_Intron|ETV1_ENST00000405192.2_Silent_p.S172S|ETV1_ENST00000403527.1_Silent_p.S132S|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000430479.1_Silent_p.S172S|ETV1_ENST00000405358.4_Silent_p.S186S P50549 ETV1_HUMAN ets variant 1 172 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GTATGGACTGCGATGGAGGGA 0.498000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 4 161 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C A rs104894226 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:534285C>A ENST00000417302.1 - 2 225 c.38G>T c.(37-39)gGt>gTt p.G13V HRAS_ENST00000397594.1_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000451590.1_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 12 43 6.31663e-08 6.55058e-08 1 1 0 IL1RL2 8808 broad.mit.edu 37 2 102805746 102805746 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:102805746C>T ENST00000264257.2 + 3 395 c.269C>T c.(268-270)tCa>tTa p.S90L IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.S90L NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 90 Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TGGGGGGACTCAGGAGTCTAC 0.343000 9 22 0 0 1 0 0 GNPDA1 10007 broad.mit.edu 37 5 141385883 141385883 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:141385883G>A ENST00000508177.1 - 3 993 c.235C>T c.(235-237)Cga>Tga p.R79* GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.R45*|GNPDA1_ENST00000542860.1_Intron|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.R79*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.R79* P46926 GNPI1_HUMAN glucosamine-6-phosphate deaminase 1 79 generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization cytoplasm glucosamine-6-phosphate deaminase activity|hydrolase activity central_nervous_system(1)|lung(1)|skin(3)|stomach(1) 6 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGTGGTCTCGAGGAAGGCCT 0.537000 20 62 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167753592 167753592 + Splice_Site SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:167753592G>C ENST00000239587.5 + 3 292 c.e3-1 NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TCCATTTTTAGAAAAAACCTC 0.507000 23 63 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144135764 144135764 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:144135764G>C ENST00000307017.4 + 9 3141 c.2635G>C c.(2635-2637)Gag>Cag p.E879Q USP38_ENST00000510377.1_Missense_Mutation_p.E879Q NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 879 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) CCACCAGTCTGAGGCTCTGGC 0.418000 23 29 0 0 1 0 0 ZNF141 7700 broad.mit.edu 37 4 367418 367418 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:367418G>A ENST00000240499.7 + 4 1341 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron NM_003441.2 NP_003432.1 Q15928 ZN141_HUMAN zinc finger protein 141 398 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 18 CTACAAATGTGAAGAATGTGG 0.418000 41 96 0 0 1 0 0 GPR176 11245 broad.mit.edu 37 15 40093484 40093484 + Nonsense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:40093484G>T ENST00000299092.3 - 4 1592 c.1394C>A c.(1393-1395)tCa>tAa p.S465* RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000543580.1_Nonsense_Mutation_p.S421*|GPR176_ENST00000561100.1_Nonsense_Mutation_p.S466* NM_001271854.1|NM_001271855.1 NP_001258783.1|NP_001258784.1 Q14439 GP176_HUMAN G protein-coupled receptor 176 466 synaptic transmission integral to plasma membrane G-protein coupled receptor activity central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2) 23 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) TCGGGTCTCTGAGAGCCACTG 0.582000 32 89 4.74835e-14 5.06053e-14 1 1 0 PSD 5662 broad.mit.edu 37 10 104163154 104163154 + Missense_Mutation SNP G G A rs142273937 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:104163154G>A ENST00000020673.5 - 17 3404 c.2878C>T c.(2878-2880)Cgg>Tgg p.R960W PSD_ENST00000406432.1_Missense_Mutation_p.R960W NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 960 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGCTTGACCCGAAGCAGCGCT 0.632000 13 37 0 0 1 0 0 CPT1C 126129 broad.mit.edu 37 19 50215191 50215191 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:50215191C>T ENST00000392518.4 + 17 2364 c.1992C>T c.(1990-1992)ctC>ctT p.L664L CPT1C_ENST00000598293.1_Silent_p.L664L|CPT1C_ENST00000323446.5_Silent_p.L664L|CPT1C_ENST00000405931.2_Silent_p.L653L|CPT1C_ENST00000354199.5_Intron NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 664 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) CCCGATTCCTCCACCTGCAGT 0.607000 17 45 0 0 1 0 0 KIAA0753 9851 broad.mit.edu 37 17 6515340 6515340 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:6515340C>T ENST00000361413.3 - 8 1802 c.1444G>A c.(1444-1446)Gag>Aag p.E482K KIAA0753_ENST00000589033.1_Intron|KIAA0753_ENST00000572370.1_Missense_Mutation_p.E183K|KIAA0753_ENST00000542606.1_Missense_Mutation_p.E183K NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 482 centrosome endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GCTAACACCTCGTCTTTGAAG 0.463000 63 180 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 11990454 11990454 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:11990454C>G ENST00000356352.2 - 15 3561 c.3088G>C c.(3088-3090)Gaa>Caa p.E1030Q UPF2_ENST00000357604.5_Missense_Mutation_p.E1030Q|UPF2_ENST00000397053.2_Missense_Mutation_p.E1030Q Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 1030 Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) tcatcctcttcaagattttct 0.358000 21 32 0 0 1 0 0 KDM3A 55818 broad.mit.edu 37 2 86705816 86705816 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:86705816C>G ENST00000409556.1 + 16 2639 c.2274C>G c.(2272-2274)ttC>ttG p.F758L KDM3A_ENST00000542128.1_Missense_Mutation_p.F706L|KDM3A_ENST00000409064.1_Missense_Mutation_p.F758L|KDM3A_ENST00000312912.5_Missense_Mutation_p.F758L Q9Y4C1 KDM3A_HUMAN lysine (K)-specific demethylase 3A 758 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 47 ACAGGCAATTCAAACTCTTTT 0.378000 11 51 0 0 1 0 0 KSR1 8844 broad.mit.edu 37 17 25935033 25935033 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:25935033C>T ENST00000398988.3 + 17 2188 c.1743C>T c.(1741-1743)atC>atT p.I581I KSR1_ENST00000509603.2_Silent_p.I696I|KSR1_ENST00000319524.6_Silent_p.I718I|KSR1_ENST00000268763.6_Silent_p.I581I NM_014238.1 NP_055053.1 Q8IVT5 KSR1_HUMAN kinase suppressor of ras 1 716 Ras protein signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 28 Lung NSC(42;0.00836) BRCA - Breast invasive adenocarcinoma(3;0.00122) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) AGGAGATCATCAAGGTGAGGG 0.597000 6 9 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7736828 7736828 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:7736828C>G ENST00000572933.1 + 86 14721 c.13261C>G c.(13261-13263)Cta>Gta p.L4421V DNAH2_ENST00000389173.2_Missense_Mutation_p.L4421V Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 4421 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGGCACTGCTCTACTCATGAG 0.577000 14 42 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214557145 214557145 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:214557145C>T ENST00000366956.5 - 13 2247 c.2053G>A c.(2053-2055)Gag>Aag p.E685K PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 685 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) TGGGGGACCTCGTGGCTGCCT 0.642000 15 61 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121500541 121500541 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:121500541G>A ENST00000305949.1 + 12 1353 c.1308G>A c.(1306-1308)aaG>aaA p.K436K NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 436 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TTCATGGAAAGATGAAAACAA 0.358000 8 27 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67912285 67912285 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:67912285C>G ENST00000358933.5 + 9 1266 c.1027C>G c.(1027-1029)Cat>Gat p.H343D EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 343 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GTGGAAACCTCATGATGGGCG 0.617000 34 118 0 0 1 0 0 CCT5 22948 broad.mit.edu 37 5 10263367 10263367 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:10263367G>A ENST00000280326.4 + 10 1859 c.1439G>A c.(1438-1440)aGa>aAa p.R480K CCT5_ENST00000506600.1_Missense_Mutation_p.R387K|CCT5_ENST00000515390.1_Missense_Mutation_p.R425K|CCT5_ENST00000515676.1_Missense_Mutation_p.R442K|CCT5_ENST00000503026.1_Missense_Mutation_p.R459K NM_012073.3 NP_036205.1 P48643 TCPE_HUMAN chaperonin containing TCP1, subunit 5 (epsilon) 480 'de novo' posttranslational protein folding|response to virus microtubule organizing center|nucleolus ATP binding|unfolded protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2) 26 GTCCGAGCCAGACAGGTGAAG 0.577000 20 45 0 0 1 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925636 114925636 + Missense_Mutation SNP A A G rs61724286 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:114925636A>G ENST00000545257.1 + 15 2272 c.1765A>G c.(1765-1767)Att>Gtt p.I589V TCF7L2_ENST00000543371.1_Missense_Mutation_p.I572V|TCF7L2_ENST00000542695.1_Missense_Mutation_p.I305V|TCF7L2_ENST00000369397.4_Missense_Mutation_p.I566V|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.I589V|TCF7L2_ENST00000536810.1_Missense_Mutation_p.I572V Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 589 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CTCCTCATCAATTGCACAGCC 0.642000 T VTI1A colorectal 29 83 0 0 1 0 0 TMCO6 55374 broad.mit.edu 37 5 140021368 140021368 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:140021368C>T ENST00000511410.1 + 3 392 c.317C>T c.(316-318)tCa>tTa p.S106L TMCO6_ENST00000252100.6_Intron|TMCO6_ENST00000394671.3_Intron|TMCO6_ENST00000537378.1_Intron|NDUFA2_ENST00000510680.1_Intron Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 0 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCATCCGGTCAGTGTGGATG 0.597000 18 43 0 0 1 0 0 LMNB2 84823 broad.mit.edu 37 19 2432468 2432468 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:2432468C>G ENST00000325327.3 - 9 1598 c.1536G>C c.(1534-1536)gaG>gaC p.E512D LMNB2_ENST00000582871.1_Missense_Mutation_p.E492D Q03252 LMNB2_HUMAN lamin B2 492 Tail. nuclear inner membrane structural molecule activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTAGGCGATCTCCTCCCCCT 0.627000 31 88 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1017057 1017057 + Missense_Mutation SNP G G C rs71472140 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:1017057G>C ENST00000421673.2 - 31 5794 c.5744C>G c.(5743-5745)tCt>tGt p.S1915C NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1915 Approximate repeats.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TAGGGATGTAGAAGTTTTGGC 0.547000 94 945 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418836 55418836 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:55418836C>A ENST00000312422.2 + 1 457 c.457C>A c.(457-459)Cac>Aac p.H153N NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 153 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) TGGGTTCTTACACTCCATTAT 0.433000 80 171 9.59377e-39 1.0572e-38 1 1 0 C6orf106 64771 broad.mit.edu 37 6 34574664 34574664 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:34574664G>A ENST00000374023.3 - 4 772 c.529C>T c.(529-531)Ctc>Ttc p.L177F C6orf106_ENST00000374026.3_Missense_Mutation_p.L111F|C6orf106_ENST00000374021.1_Missense_Mutation_p.L103F NM_024294.2 NP_077270.1 Q9H6K1 CF106_HUMAN chromosome 6 open reading frame 106 177 endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 TCCACACTGAGAATCACCCAG 0.453000 35 35 0 0 1 0 0 HOXC6 3223 broad.mit.edu 37 12 54422559 54422559 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:54422559C>T ENST00000394331.3 + 2 1718 c.8C>T c.(7-9)tCa>tTa p.S3L HOXC4_ENST00000303406.4_Intron|HOXC5_ENST00000512206.1_Intron|HOXC6_ENST00000243108.4_Missense_Mutation_p.S85L NM_153693.3 NP_710160.1 P09630 HXC6_HUMAN homeobox C6 85 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GACATGCTCTCAAACTGCAGA 0.498000 55 151 0 0 1 0 0 HLA-A 3105 broad.mit.edu 37 6 29912176 29912176 + Splice_Site SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:29912176T>C ENST00000396634.1 + 6 1236 c.e6+2 HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site|HLA-A_ENST00000376809.5_Splice_Site P30443 1A01_HUMAN major histocompatibility complex, class I, A antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGAGATGGGGTAAGGAGGGAG 0.597000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 38 32 0 0 1 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225171 179225171 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:179225171C>G ENST00000337755.5 - 13 2548 c.1662G>C c.(1660-1662)ctG>ctC p.L554L MGAT4B_ENST00000292591.7_Silent_p.L539L NM_054013.3 NP_463459.1 Q9UQ53 MGT4B_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B 539 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCACCTCGCTCAGAATCACCC 0.677000 3 11 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138201248 138201248 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:138201248C>T ENST00000237289.4 + 8 2013 c.1947C>T c.(1945-1947)tcC>tcT p.S649S NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 649 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CCACAGCGTCCAGGTTCCAGA 0.517000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 21 56 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58227442 58227442 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:58227442C>T ENST00000300900.4 + 1 146 c.47C>T c.(46-48)tCg>tTg p.S16L NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 16 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCGCGGCCATCGGCCAGTGCA 0.761000 9 19 0 0 1 0 0 PLAU 5328 broad.mit.edu 37 10 75673112 75673112 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:75673112G>A ENST00000446342.1 + 5 864 c.382G>A c.(382-384)Gag>Aag p.E128K C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.E145K|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372762.4_Missense_Mutation_p.E109K NM_001145031.1 NP_001138503.1 P00749 UROK_HUMAN plasminogen activator, urokinase 145 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GCTTGTCCAAGAGTGCATGGT 0.537000 32 96 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136834061 136834061 + Splice_Site SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:136834061C>T ENST00000394945.1 - 2 356 c.e2+1 SPOCK1_ENST00000282223.7_Splice_Site NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCGGTACTCACGTCTCGAAAG 0.647000 6 17 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90403841 90403841 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:90403841C>T ENST00000369393.3 - 62 9948 c.9833G>A c.(9832-9834)aGa>aAa p.R3278K MDN1_ENST00000428876.1_Missense_Mutation_p.R3278K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3278 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTCCAGGTCTCTTCCAGTCTG 0.468000 11 48 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150432736 150432736 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:150432736G>A ENST00000401000.4 + 8 1341 c.1276G>A c.(1276-1278)Gat>Aat p.D426N RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.D452N|RPRD2_ENST00000539519.1_Missense_Mutation_p.D426N Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 452 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GGCTAATGTGGATCTGGCAAA 0.438000 9 22 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146033476 146033476 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:146033476G>C ENST00000296577.4 + 9 1311 c.796G>C c.(796-798)Gat>Cat p.D266H ABCE1_ENST00000502803.1_Intron|OTUD4_ENST00000455611.2_Intron NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 266 ABC transporter 1. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) AATAAATCCAGATAGGTAAGT 0.338000 5 7 0 0 1 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128827 3128827 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:3128827T>C ENST00000380266.3 - 2 1211 c.890A>G c.(889-891)gAc>gGc p.D297G UBOX5_ENST00000217173.2_Intron|UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 297 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 TTGCATTAGGTCCTGGGATAC 0.338000 22 65 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31395680 31395680 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:31395680C>T ENST00000328111.2 + 23 2854 c.2533C>T c.(2533-2535)Cct>Tct p.P845S DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 845 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTCTTCGCCCCTCTGAAGGA 0.607000 34 122 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131007718 131007718 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:131007718C>T ENST00000307968.7 - 13 2334 c.2335G>A c.(2335-2337)Gag>Aag p.E779K FNIP1_ENST00000307954.8_Missense_Mutation_p.E762K|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.E807K NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) GTATCAGACTCTCCAGATTGG 0.418000 29 105 0 0 1 0 0 CCDC180 100499483 broad.mit.edu 37 9 100079383 100079383 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:100079383C>G ENST00000375202.2 + 23 2316 c.964C>G c.(964-966)Ctc>Gtc p.L322V CCDC180_ENST00000395220.1_Missense_Mutation_p.L461V|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.L461V|CCDC180_ENST00000411667.2_Missense_Mutation_p.L319V|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.L322V coiled-coil domain containing 180 CCGGAAGGCTCTCGCCCAGCT 0.622000 71 167 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38979979 38979979 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:38979979G>A ENST00000355481.4 + 35 5841 c.5710G>A c.(5710-5712)Gaa>Aaa p.E1904K RYR1_ENST00000360985.3_Missense_Mutation_p.E1904K|RYR1_ENST00000359596.3_Missense_Mutation_p.E1904K NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1904 6 X approximate repeats.|Glu-rich (acidic). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) acaggaaaaggaagatgagga 0.517000 23 47 0 0 1 0 0 OLFM4 10562 broad.mit.edu 37 13 53624563 53624563 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:53624563C>G ENST00000219022.2 + 5 1268 c.1190C>G c.(1189-1191)tCa>tGa p.S397* NM_006418.4 NP_006409.3 Q6UX06 OLFM4_HUMAN olfactomedin 4 397 Olfactomedin-like. cell adhesion extracellular space breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1) 39 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) GTTATTTATTCAACTGAAGCC 0.403000 50 112 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2164194 2164194 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:2164194G>A ENST00000262304.4 - 11 3038 c.2830C>T c.(2830-2832)Cgt>Tgt p.R944C PKD1_ENST00000423118.1_Missense_Mutation_p.R944C NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 944 PKD 4. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TGCAGTACACGGGCCTCGGGG 0.701000 14 59 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8647848 8647848 + Missense_Mutation SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:8647848A>G ENST00000293845.3 - 1 306 c.80T>C c.(79-81)cTc>cCc p.L27P CCDC42_ENST00000539522.2_Missense_Mutation_p.L27P NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 27 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 CACTCACTGGAGCATCTGCAG 0.622000 15 64 0 0 1 0 0 CD28 940 broad.mit.edu 37 2 204571443 204571443 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:204571443C>T ENST00000374481.3 + 1 246 c.24C>T c.(22-24)ctC>ctT p.L8L CD28_ENST00000324106.7_Silent_p.L8L|CD28_ENST00000458610.2_Intron|CD28_ENST00000374478.4_Silent_p.L8L P10747 CD28_HUMAN CD28 molecule 8 cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane coreceptor activity|protease binding|SH3/SH2 adaptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 TCTTGGCTCTCAACTTATTCC 0.438000 16 50 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231193506 231193506 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:231193506G>C ENST00000243810.6 + 2 67 c.67G>C c.(67-69)Gag>Cag p.E23Q SP140_ENST00000486687.2_Intron|SP140L_ENST00000396563.4_Missense_Mutation_p.E23Q|SP140L_ENST00000444636.1_Missense_Mutation_p.E23Q|SP140L_ENST00000415673.2_Missense_Mutation_p.E23Q Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 23 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 agtagcaaatgagatgaacca 0.383000 10 27 0 0 1 0 0 RGR 5995 broad.mit.edu 37 10 86017661 86017661 + Missense_Mutation SNP C C G rs145994931 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:86017661C>G ENST00000359452.4 + 6 693 c.655C>G c.(655-657)Ctg>Gtg p.L219V RGR_ENST00000358110.5_Intron|RGR_ENST00000479725.1_3'UTR NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 215 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 AAACACCACTCTGCCAGCAAG 0.562000 19 44 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121556 27121556 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:27121556C>T ENST00000288699.6 + 2 347 c.189C>T c.(187-189)atC>atT p.I63I DPYSL5_ENST00000401478.1_Silent_p.I63I NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 63 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTGGCATCGACACCAGCA 0.572000 25 39 0 0 1 0 0 ORC3 23595 broad.mit.edu 37 6 88315655 88315655 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:88315655G>C ENST00000392844.3 + 5 391 c.343G>C c.(343-345)Gat>Cat p.D115H ORC3_ENST00000546266.1_5'UTR|ORC3_ENST00000417380.2_Missense_Mutation_p.D62H|ORC3_ENST00000257789.4_Missense_Mutation_p.D115H NM_012381.3|NM_181837.2 NP_036513.2|NP_862820.1 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 115 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 28 CACAGATCATGATTTGACATT 0.313000 19 65 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1221325 1221325 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:1221325C>T ENST00000326873.7 + 6 2021 c.848C>T c.(847-849)tCt>tTt p.S283F NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 283 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Y246fs*3(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCCGCTCTCTGACCTGCTG 0.627000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 8 17 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47259551 47259551 + Splice_Site SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:47259551C>T ENST00000256996.4 + 8 1382 c.1188_splice c.e8+1 p.S396_splice DDB2_ENST00000378600.3_Splice_Site_p.S207_splice|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332_splice NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 396 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding p.S396L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 GGCATCAGTTCGGTGAGGCTT 0.463000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 29 38 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050727 49050727 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:49050727G>A ENST00000395474.3 + 2 2130 c.1850G>A c.(1849-1851)cGt>cAt p.R617H WDR6_ENST00000448293.1_Missense_Mutation_p.R536H|WDR6_ENST00000415265.2_Missense_Mutation_p.R35H|WDR6_ENST00000489684.1_3'UTR NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 587 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) ACCACAGGGCGTGATGGAGCC 0.587000 14 32 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16024960 16024960 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:16024960G>C ENST00000505450.1 - 7 1358 c.746C>G c.(745-747)tCc>tGc p.S249C PROM1_ENST00000447510.2_Missense_Mutation_p.S258C|PROM1_ENST00000502943.1_5'UTR|PROM1_ENST00000539194.1_Missense_Mutation_p.S258C|PROM1_ENST00000543373.1_Missense_Mutation_p.S249C|PROM1_ENST00000508167.1_Missense_Mutation_p.S249C|PROM1_ENST00000510224.1_Missense_Mutation_p.S258C|PROM1_ENST00000540805.1_Missense_Mutation_p.S258C NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 258 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 TGTTGCCATGGACTTAATCTC 0.473000 7 11 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55626420 55626420 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:55626420G>A ENST00000373965.2 - 28 4114 c.3720C>T c.(3718-3720)agC>agT p.S1240S PCDH15_ENST00000320301.6_Silent_p.S1233S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.S1233S|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.S1211S|PCDH15_ENST00000437009.1_Silent_p.S1162S|PCDH15_ENST00000395432.2_Silent_p.S1196S|PCDH15_ENST00000395445.1_Silent_p.S1240S|PCDH15_ENST00000395438.1_Silent_p.S1233S|PCDH15_ENST00000361849.3_Silent_p.S1233S|PCDH15_ENST00000414778.1_Silent_p.S1238S|PCDH15_ENST00000409834.1_Silent_p.S844S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1233 Cadherin 11. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CGGCTTTGCCGCTCAGTCCCT 0.408000 HNSCC(58;0.16) 14 39 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 140001200 140001200 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:140001200C>G ENST00000371589.4 + 10 1578 c.1505C>G c.(1504-1506)tCc>tGc p.S502C MAN1B1_ENST00000474902.1_Missense_Mutation_p.S205C|MAN1B1_ENST00000540391.1_3'UTR NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 502 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) CTGCGGCACTCCGAGCCCAGT 0.632000 15 57 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4135747 4135747 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:4135747C>G ENST00000380118.3 - 1 84 c.48G>C c.(46-48)ccG>ccC p.P16P ECI2_ENST00000361538.2_5'UTR|ECI2_ENST00000465828.1_5'UTR|RP3-400B16.4_ENST00000527831.1_RNA|ECI2_ENST00000413766.2_5'UTR O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 16 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 AAGCTTACCTCGGACACGAAC 0.692000 14 59 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194081391 194081391 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:194081391C>G ENST00000347624.3 - 2 467 c.382G>C c.(382-384)Gag>Cag p.E128Q LRRC15_ENST00000428839.1_Missense_Mutation_p.E134Q|LRRC15_ENST00000439944.2_Missense_Mutation_p.E134Q NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 128 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AGGAGAGACTCGAGGCTGTCC 0.612000 30 71 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28268867 28268867 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:28268867C>G ENST00000405948.2 + 7 1656 c.1236C>G c.(1234-1236)ctC>ctG p.L412L PGBD1_ENST00000259883.3_Silent_p.L412L NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 412 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TTTTGAATCTCAAGAGCGAAA 0.348000 40 77 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52256285 52256285 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:52256285C>G ENST00000597542.1 - 9 3076 c.2119G>C c.(2119-2121)Gac>Cac p.D707H TLR9_ENST00000494383.1_Missense_Mutation_p.R836P|TLR9_ENST00000360658.2_Missense_Mutation_p.D683H Q9NR96 TLR9_HUMAN toll-like receptor 9 683 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCTGCCAGGTCGAGGACTTCC 0.597000 41 108 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129822945 129822945 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:129822945G>A ENST00000338144.3 - 6 649 c.232C>T c.(232-234)Cca>Tca p.P78S ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370935.1_Missense_Mutation_p.P49S|ENOX2_ENST00000394363.1_Missense_Mutation_p.P49S|ENOX2_ENST00000370927.1_Missense_Mutation_p.P78S NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 78 Pro-rich. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 GGCATCATTGGAGTTATTGGT 0.428000 34 75 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149735 202149735 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:202149735C>G ENST00000358485.4 + 8 1372 c.1176C>G c.(1174-1176)atC>atG p.I392M CASP8_ENST00000323492.7_Missense_Mutation_p.I318M|CASP8_ENST00000264274.9_Missense_Mutation_p.I249M|CASP8_ENST00000264275.5_Missense_Mutation_p.I350M|CASP8_ENST00000432109.2_Missense_Mutation_p.I333M|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 333 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGGCCCCCATCTATGAGCTGA 0.488000 HNSCC(4;0.00038) 43 101 0 0 1 0 0 DDX39B 7919 broad.mit.edu 37 6 31508147 31508147 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31508147C>G ENST00000417556.2 - 2 793 c.163G>C c.(163-165)Gag>Cag p.E55Q DDX39B_ENST00000415382.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000396172.1_Missense_Mutation_p.E55Q|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000453105.2_Missense_Mutation_p.Q50H|DDX39B_ENST00000449074.2_Missense_Mutation_p.E55Q|DDX39B_ENST00000458640.1_Missense_Mutation_p.E55Q Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 55 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 CGGAGCAACTCTGGCTTGAGC 0.537000 24 66 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38315005 38315005 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:38315005C>G ENST00000425967.3 - 3 381 c.59G>C c.(58-60)aGa>aCa p.R20T FGFR1_ENST00000447712.2_5'UTR|FGFR1_ENST00000397103.1_5'UTR|FGFR1_ENST00000397113.2_5'UTR|FGFR1_ENST00000356207.5_5'UTR|FGFR1_ENST00000341462.5_5'UTR|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000532791.1_5'UTR|FGFR1_ENST00000397091.5_5'UTR|FGFR1_ENST00000326324.6_5'UTR|FGFR1_ENST00000397108.4_5'UTR NM_001174067.1 NP_001167538.1 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 0 axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) GGCTCCACATCTCCATGGATA 0.537000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 8 23 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123201043 123201043 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:123201043G>T ENST00000528880.2 - 1 396 c.242C>A c.(241-243)cCg>cAg p.P81Q HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 81 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) CATCACGAACGGCAGGCAGAT 0.537000 18 34 2.35188e-11 2.47651e-11 1 1 0 MAP1S 55201 broad.mit.edu 37 19 17837872 17837872 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:17837872C>T ENST00000324096.4 + 5 1830 c.1679C>T c.(1678-1680)cCc>cTc p.P560L MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.P534L NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 560 Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CAGGCGGCACCCAAGCCCCGC 0.687000 4 8 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32728184 32728184 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:32728184C>T ENST00000421745.2 + 49 9514 c.9380C>T c.(9379-9381)tCa>tTa p.S3127L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3127 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGTATGGTATCAACTATTATG 0.353000 9 14 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43823505 43823505 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:43823505G>A ENST00000389420.3 - 24 3403 c.3404C>T c.(3403-3405)tCa>tTa p.S1135L ADAMTS20_ENST00000395541.2_Intron|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S1135L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1135 TSP type-1 6. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGAAATAAATGAGCAAGGTGT 0.343000 4 7 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47917923 47917923 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:47917923G>A ENST00000276054.4 - 5 2470 c.1536C>T c.(1534-1536)ttC>ttT p.F512F ZNF630_ENST00000409324.3_Silent_p.F636F|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Silent_p.F622F Q2M218 ZN630_HUMAN zinc finger protein 630 636 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 CATGCTGGCAGAATGCCTTCC 0.443000 15 42 0 0 1 0 0 USP3 9960 broad.mit.edu 37 15 63883006 63883006 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:63883006C>G ENST00000268049.7 + 16 1802 c.1478C>G c.(1477-1479)gCt>gGt p.A493G USP3_ENST00000540797.1_Missense_Mutation_p.A471G|USP3_ENST00000539772.1_Missense_Mutation_p.A266G|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.A515G|USP3_ENST00000559711.1_Missense_Mutation_p.A426G|USP3_ENST00000558285.1_Missense_Mutation_p.A498G|USP3-AS1_ENST00000558831.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA Q9Y6I4 UBP3_HUMAN ubiquitin specific peptidase 3 515 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(3)|large_intestine(7)|lung(4) 14 GBM - Glioblastoma multiforme(80;0.0187) CAGGCCAAAGCTGGATCGGAT 0.423000 36 100 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26581864 26581864 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:26581864C>T ENST00000376261.3 + 15 2031 c.1528C>T c.(1528-1530)Cct>Tct p.P510S GAD2_ENST00000259271.3_Missense_Mutation_p.P510S NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 510 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTGGTACATTCCTCCAAGCTT 0.453000 85 221 0 0 1 0 0 ACRC 93953 broad.mit.edu 37 X 70824220 70824220 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:70824220G>C ENST00000373695.1 + 7 1630 c.1093G>C c.(1093-1095)Gat>Cat p.D365H ACRC_ENST00000373696.3_Missense_Mutation_p.D365H Q96QF7 ACRC_HUMAN acidic repeat containing 365 nucleus p.D365N(1) autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) CTCCCAGCATGATTCATCTGA 0.483000 14 48 0 0 1 0 0 GOLGA4 2803 broad.mit.edu 37 3 37368485 37368485 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:37368485C>T ENST00000361924.2 + 14 5482 c.5108C>T c.(5107-5109)tCa>tTa p.S1703L GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1725L NM_002078.4 NP_002069.2 Q13439 GOGA4_HUMAN golgin A4 1703 Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGTTCACAGTCAGAAACATTA 0.383000 64 177 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149229 34149229 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:34149229C>T ENST00000346193.3 - 1 1218 c.1167G>A c.(1165-1167)ccG>ccA p.P389P NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 389 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGGGAGGCTCCGGGCTGAGAT 0.622000 26 99 0 0 1 0 0 PCNA 5111 broad.mit.edu 37 20 5096200 5096200 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:5096200C>T ENST00000379160.3 - 6 843 c.601G>A c.(601-603)Gaa>Aaa p.E201K PCNA_ENST00000379143.5_Missense_Mutation_p.E201K NM_002592.2 NP_002583.1 P12004 PCNA_HUMAN proliferating cell nuclear antigen 201 cell proliferation|DNA strand elongation involved in DNA replication|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis cytoplasm|DNA replication factor C complex|microtubule cytoskeleton|nuclear replication fork|nucleoplasm|PCNA complex|PCNA-p21 complex dinucleotide insertion or deletion binding|DNA polymerase processivity factor activity|MutLalpha complex binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 TGAACTGGTTCATTCATCTCT 0.358000 DNA polymerases (catalytic subunits) 26 62 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40915073 40915073 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:40915073G>A ENST00000346991.5 + 11 3079 c.2689G>A c.(2689-2691)Gat>Aat p.D897N CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D871N Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 897 2 X 104 AA approximate repeats. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CGATAAGAATGATATGGATAT 0.333000 27 66 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114201756 114201756 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:114201756G>A ENST00000369615.1 + 16 2746 c.2684G>A c.(2683-2685)gGa>gAa p.G895E MAGI3_ENST00000307546.9_Missense_Mutation_p.G895E|MAGI3_ENST00000369617.4_Missense_Mutation_p.G920E|MAGI3_ENST00000369611.4_Missense_Mutation_p.G895E NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 920 Interaction with LPAR2 and GRIN2B.|PDZ 5. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GACCGCTGTGGAAAACTGAAA 0.408000 32 76 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225751178 225751178 + Nonsense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:225751178C>A ENST00000409592.3 - 5 582 c.469G>T c.(469-471)Gaa>Taa p.E157* DOCK10_ENST00000258390.7_Nonsense_Mutation_p.E163* Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 163 GTP binding p.E163K(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTACTTACTTCATCCTTATCA 0.338000 4 18 0.150653 0.151144 1 1 0 HACE1 57531 broad.mit.edu 37 6 105239524 105239524 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:105239524G>A ENST00000262903.4 - 11 1205 c.929C>T c.(928-930)tCt>tTt p.S310F HACE1_ENST00000369125.2_Missense_Mutation_p.S310F NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 310 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ATAATTGCTAGAGAGGCTGAA 0.313000 26 95 0 0 1 0 0 SLC30A7 148867 broad.mit.edu 37 1 101377785 101377785 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:101377785C>T ENST00000370112.4 + 5 689 c.502C>T c.(502-504)Cat>Tat p.H168Y SLC30A7_ENST00000357650.4_Missense_Mutation_p.H168Y NM_001144884.1|NM_133496.4 NP_001138356.1|NP_598003.2 Q8NEW0 ZNT7_HUMAN solute carrier family 30 (zinc transporter), member 7 168 His-rich loop. zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding endometrium(3)|large_intestine(2)|lung(10) 15 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TGGACATTCTCATGGCTCTGG 0.353000 51 123 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 4 18 0 0 1 0 0 PLK1S1 55857 broad.mit.edu 37 20 21227155 21227155 + RNA SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:21227155G>C ENST00000457464.1 + 0 3750 Q2M2Z5 KIZ_HUMAN polo-like kinase 1 substrate 1 spindle organization centrosome protein kinase binding CTCAGAAATTGAGGCTGCTTT 0.373000 6 19 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149282 34149282 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:34149282C>A ENST00000346193.3 - 1 1165 c.1114G>T c.(1114-1116)Ggg>Tgg p.G372W NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 372 p.G372W(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 AGACTGGACCCCCGACGAGTC 0.632000 30 90 1.99505e-19 2.15985e-19 1 1 0 LGALS3BP 3959 broad.mit.edu 37 17 76967881 76967881 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:76967881G>A ENST00000262776.3 - 6 1843 c.1535C>T c.(1534-1536)tCa>tTa p.S512L LGALS3BP_ENST00000591778.1_3'UTR NM_005567.3 NP_005558.1 Q08380 LG3BP_HUMAN lectin, galactoside-binding, soluble, 3 binding protein 512 cell adhesion|cellular defense response extracellular space|membrane|proteinaceous extracellular matrix protein binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GGTGCGATCTGAGCCGCCAGA 0.607000 OREG0024787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 43 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5460625 5460625 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:5460625C>G ENST00000296564.7 + 13 1400 c.1178C>G c.(1177-1179)tCa>tGa p.S393* NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 393 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GAGTGTGTTTCAGAAGATGAT 0.368000 7 14 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35974238 35974238 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:35974238G>C ENST00000297866.5 + 8 1401 c.1335G>C c.(1333-1335)gtG>gtC p.V445V NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 445 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TACTTCCTGTGACGTACCACT 0.353000 23 54 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38755520 38755520 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:38755520G>A ENST00000449082.2 - 21 3732 c.3733C>T c.(3733-3735)Ccc>Tcc p.P1245S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1245 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCTTTGATGGGAGCCACTTCA 0.502000 34 98 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431941 56431941 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:56431941G>C ENST00000302969.2 + 1 804 c.780G>C c.(778-780)ctG>ctC p.L260L NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TTATGTACCTGAGGCCAACAT 0.512000 33 74 0 0 1 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45500032 45500032 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:45500032C>G ENST00000359600.5 - 11 2606 c.2401G>C c.(2401-2403)Gaa>Caa p.E801Q NM_020883.1 NP_065934.1 Q9P217 ZSWM5_HUMAN zinc finger, SWIM-type containing 5 801 zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) TGCTGTGATTCCAAGTGTCCA 0.547000 59 137 0 0 1 0 0 AKNA 80709 broad.mit.edu 37 9 117138967 117138967 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:117138967C>T ENST00000307564.4 - 3 1281 c.1120G>A c.(1120-1122)Gag>Aag p.E374K AKNA_ENST00000374075.5_Missense_Mutation_p.E293K|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.E374K|AKNA_ENST00000312033.3_Missense_Mutation_p.E374K NM_030767.4 NP_110394.3 Q7Z591 AKNA_HUMAN AT-hook transcription factor 374 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CGGTAGCTCTCATCTTTGGGG 0.592000 14 42 0 0 1 0 0 CRYBB3 1417 broad.mit.edu 37 22 25599781 25599781 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:25599781G>A ENST00000215855.2 + 4 326 c.246G>A c.(244-246)gaG>gaA p.E82E CRYBB3_ENST00000404334.1_Silent_p.E82E NM_004076.3 NP_004067.1 P26998 CRBB3_HUMAN crystallin, beta B3 82 Beta/gamma crystallin 'Greek key' 2. visual perception protein binding|structural constituent of eye lens large_intestine(2)|lung(2)|prostate(1) 5 TTGTTCTGGAGAAGGGGGATT 0.582000 51 152 0 0 1 0 0 GPR173 54328 broad.mit.edu 37 X 53106005 53106005 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:53106005G>A ENST00000332582.4 + 2 693 c.202G>A c.(202-204)Gat>Aat p.D68N NM_018969.5 NP_061842.1 Q9NS66 GP173_HUMAN G protein-coupled receptor 173 68 integral to membrane|plasma membrane G-protein coupled receptor activity p.D68Y(2) breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1) 16 GTGCCTGGCCGATGGCATACG 0.602000 43 66 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103436591 103436591 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:103436591G>C ENST00000361246.2 - 14 2180 c.1892C>G c.(1891-1893)gCt>gGt p.A631G NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 631 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ATCAAGCTGAGCTTCCAGCTA 0.527000 5 14 0 0 1 0 0 LDHAL6A 160287 broad.mit.edu 37 11 18500318 18500318 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:18500318C>T ENST00000280706.2 + 7 1697 c.900C>T c.(898-900)atC>atT p.I300I TSG101_ENST00000536719.1_Intron|LDHAL6A_ENST00000396213.3_Silent_p.I300I NM_144972.4 NP_659409.2 Q6ZMR3 LDH6A_HUMAN lactate dehydrogenase A-like 6A 300 glycolysis cytoplasm binding|L-lactate dehydrogenase activity large_intestine(3)|lung(9)|urinary_tract(1) 13 NADH(DB00157) AGAATGGTATCACAGACCTCA 0.378000 61 176 0 0 1 0 0 BCL6B 255877 broad.mit.edu 37 17 6927875 6927875 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:6927875G>T ENST00000293805.5 + 4 649 c.557G>T c.(556-558)aGc>aTc p.S186I BCL6B_ENST00000572216.1_3'UTR NM_181844.3 NP_862827.1 Q8N143 BCL6B_HUMAN B-cell CLL/lymphoma 6, member B 186 Pro-rich. nucleus zinc ion binding skin(1) 1 AGTCCAGCCAGCCCTGACCCC 0.607000 47 164 3.21987e-24 3.52925e-24 1 1 0 PRSS12 8492 broad.mit.edu 37 4 119252894 119252894 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:119252894C>G ENST00000296498.3 - 4 1230 c.948G>C c.(946-948)gtG>gtC p.V316V NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 316 SRCR 2. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 GCCTGCAGATCACTTCTGCAT 0.493000 12 70 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175410 159175410 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:159175410G>T ENST00000537147.1 + 3 1024 c.181G>T c.(181-183)Gca>Tca p.A61S DARC_ENST00000368122.2_Missense_Mutation_p.A61S|DARC_ENST00000368121.2_Missense_Mutation_p.A63S Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 61 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GGATGACTCTGCACTGCCCTT 0.547000 28 67 8.24728e-16 8.83535e-16 1 1 0 EPAS1 2034 broad.mit.edu 37 2 46587818 46587818 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:46587818C>A ENST00000263734.3 + 5 1006 c.496C>A c.(496-498)Cgg>Agg p.R166R NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 166 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GTCCACAGAGCGGGACTTCTT 0.498000 25 49 1.85244e-09 1.93407e-09 1 1 0 HNRNPH2 3188 broad.mit.edu 37 X 100668287 100668287 + Silent SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:100668287G>T ENST00000316594.5 + 2 1389 c.1311G>T c.(1309-1311)ctG>ctT p.L437L NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 437 nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 ACCAAGTTCTGCAGGAAAACT 0.458000 83 269 7.49063e-41 8.28407e-41 1 1 0 L1CAM 3897 broad.mit.edu 37 X 153135906 153135906 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:153135906G>C ENST00000370060.1 - 8 932 c.743C>G c.(742-744)tCc>tGc p.S248C L1CAM_ENST00000538883.1_Missense_Mutation_p.S250C|L1CAM_ENST00000370057.3_Missense_Mutation_p.S248C|L1CAM_ENST00000543994.1_Missense_Mutation_p.S250C|L1CAM_ENST00000361699.4_Missense_Mutation_p.S248C|L1CAM_ENST00000370055.1_Missense_Mutation_p.S243C|L1CAM_ENST00000361981.3_Missense_Mutation_p.S243C NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 248 Ig-like C2-type 3. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTGGCTGCTGGAGTTGGTGGG 0.652000 17 47 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554753 19554753 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:19554753G>C ENST00000328405.2 + 13 2637 c.2371G>C c.(2371-2373)Gag>Cag p.E791Q NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 791 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TAAAAGGAAAGAGAAGAACTT 0.448000 9 92 0 0 1 0 0 GPR123 84435 broad.mit.edu 37 10 134896287 134896287 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:134896287G>C ENST00000607359.1 + 7 1299 c.1299G>C c.(1297-1299)aaG>aaC p.K433N Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 0 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CCCCCTGTAAGCCTGGATGCG 0.657000 8 10 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14068548 14068548 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:14068548G>C ENST00000235372.7 + 5 1136 c.280G>C c.(280-282)Gag>Cag p.E94Q PRDM2_ENST00000502727.1_3'UTR|PRDM2_ENST00000376048.5_Missense_Mutation_p.E94Q|PRDM2_ENST00000311066.5_Missense_Mutation_p.E94Q NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 94 SET. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CACTGATCCAGAGAAGGGAAA 0.368000 22 47 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107433638 107433638 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:107433638G>A ENST00000394872.2 - 20 1644 c.1413C>T c.(1411-1413)ggC>ggT p.G471G COL4A6_ENST00000372216.4_Silent_p.G471G|COL4A6_ENST00000334504.7_Silent_p.G470G|COL4A6_ENST00000538570.1_Silent_p.G470G|COL4A6_ENST00000545689.1_Silent_p.G470G Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 471 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTCCTTTGAGGCCTAGGTTTC 0.468000 Alport syndrome with Diffuse Leiomyomatosis 27 82 0 0 1 0 0 GTF3C5 9328 broad.mit.edu 37 9 135926201 135926201 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:135926201G>A ENST00000372097.5 + 4 927 c.604G>A c.(604-606)Gag>Aag p.E202K GTF3C5_ENST00000372099.6_Missense_Mutation_p.E193K|GTF3C5_ENST00000372095.5_Missense_Mutation_p.E77K|GTF3C5_ENST00000372108.5_Missense_Mutation_p.E202K|GTF3C5_ENST00000342018.8_Missense_Mutation_p.E202K NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 202 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CATCTCAGGTGAGAATCTGAT 0.607000 35 96 0 0 1 0 0 TULP4 56995 broad.mit.edu 37 6 158923702 158923702 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:158923702G>A ENST00000367097.3 + 13 4364 c.3007G>A c.(3007-3009)Gac>Aac p.D1003N TULP4_ENST00000367094.2_Intron NM_020245.4 NP_064630.2 Q9NRJ4 TULP4_HUMAN tubby like protein 4 1003 intracellular signal transduction|response to nutrient cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171) OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05) CCAGCTGGCCGACAGCCCGCG 0.721000 6 17 0 0 1 0 0 FBXW5 54461 broad.mit.edu 37 9 139837266 139837266 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:139837266C>T ENST00000325285.3 - 4 560 c.481G>A c.(481-483)Ggg>Agg p.G161R FBXW5_ENST00000483559.1_5'UTR NM_018998.3 NP_061871.1 Q969U6 FBXW5_HUMAN F-box and WD repeat domain containing 5 161 catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106) TTGTGCGGCCCCAGGAACACC 0.657000 23 51 0 0 1 0 0 KCTD9 54793 broad.mit.edu 37 8 25290879 25290879 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:25290879C>G ENST00000221200.4 - 10 1106 c.886G>C c.(886-888)Gag>Cag p.E296Q NM_017634.3 NP_060104.2 Q7L273 KCTD9_HUMAN potassium channel tetramerization domain containing 9 296 Pentapeptide repeat 1. voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 12 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) GAAGGATCCTCAAAATTACAC 0.418000 8 29 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131012745 131012745 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:131012745C>T ENST00000352689.6 + 1 127 c.87C>T c.(85-87)acC>acT p.T29T MKLN1_ENST00000429546.1_Intron|MKLN1_ENST00000421797.2_Intron NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 29 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) TTTCCTCCACCTACCTTCCCG 0.672000 3 25 0 0 1 0 0 HSPA2 3306 broad.mit.edu 37 14 65007846 65007846 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:65007846C>T ENST00000247207.6 + 1 661 c.279C>T c.(277-279)ttC>ttT p.F93F HSPA2_ENST00000394709.1_Silent_p.F93F|HSPA2_ENST00000554883.1_Intron NM_021979.3 NP_068814.2 P54652 HSP72_HUMAN heat shock 70kDa protein 2 93 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) ACTGGCCGTTCCGGGTGGTGA 0.557000 18 56 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56827433 56827433 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:56827433C>T ENST00000229201.4 - 4 409 c.255G>A c.(253-255)ctG>ctA p.L85L TIMELESS_ENST00000554616.1_Silent_p.L85L|TIMELESS_ENST00000553532.1_Silent_p.L85L NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 85 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 AGTTCACCATCAGTCTGGGAG 0.478000 43 103 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155309120 155309120 + Splice_Site SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:155309120G>A ENST00000368346.3 - 26 9154 c.8516_splice c.e26+1 p.R2839_splice ASH1L_ENST00000392403.3_Splice_Site_p.R2834_splice Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2839 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GGGACTTACCGTCCTCCATTC 0.468000 4 106 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636025 42636025 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:42636025G>A ENST00000315323.3 + 1 1101 c.969G>A c.(967-969)aaG>aaA p.K323K NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 323 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) AGGGCACCAAGAAGGAGGGCT 0.622000 12 46 0 0 1 0 0 GGH 8836 broad.mit.edu 37 8 63948295 63948295 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:63948295C>G ENST00000260118.6 - 2 546 c.144G>C c.(142-144)atG>atC p.M48I NM_003878.2 NP_003869.1 Q92820 GGH_HUMAN gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) 48 Gamma-glutamyl hydrolase. glutamine metabolic process extracellular space|lysosome|melanosome gamma-glutamyl-peptidase activity breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1) 11 Breast(64;0.0716) all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131) Folic Acid(DB00158)|L-Glutamic Acid(DB00142) CATAGTTTTTCATGACTTTAT 0.323000 11 65 0 0 1 0 0 LINS 55180 broad.mit.edu 37 15 101120961 101120961 + Missense_Mutation SNP G G C rs144523618 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:101120961G>C ENST00000314742.8 - 2 309 c.87C>G c.(85-87)atC>atG p.I29M LINS_ENST00000560133.1_Intron|LINS_ENST00000561308.1_Missense_Mutation_p.I29M|LINS_ENST00000559149.1_5'UTR NM_001040616.2 NP_001035706.1 Q8NG48 LINES_HUMAN lines homolog (Drosophila) 29 I -> V (in dbSNP:rs11247226). central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4) 21 TGAGATAAAAGATGTAATCAT 0.413000 9 17 0 0 1 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128862009 128862009 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:128862009G>C ENST00000274487.4 + 4 1073 c.928G>C c.(928-930)Gaa>Caa p.E310Q CTC-575N7.1_ENST00000503616.1_RNA NM_133638.3 NP_598377.3 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 19 310 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) AAAAATAGCAGAAAGTGGAAG 0.358000 14 38 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604393 90604393 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:90604393C>A ENST00000369352.1 + 1 206 c.206C>A c.(205-207)gCa>gAa p.A69E NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 69 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TATGATGATGCATTCCCTATC 0.473000 9 38 6.40141e-05 6.47499e-05 1 1 0 ZNF839 55778 broad.mit.edu 37 14 102792787 102792787 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:102792787C>T ENST00000262236.5 + 2 761 c.406C>T c.(406-408)Cgg>Tgg p.R136W ZNF839_ENST00000559185.1_Missense_Mutation_p.R136W|ZNF839_ENST00000558850.1_Missense_Mutation_p.R136W|ZNF839_ENST00000442396.2_Missense_Mutation_p.R252W NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 136 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 ACGTTCTGGACGGGTATCTCG 0.368000 12 34 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4714208 4714208 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:4714208G>A ENST00000262960.9 - 4 475 c.198C>T c.(196-198)atC>atT p.I66I DPP9_ENST00000598800.1_Silent_p.I37I|DPP9_ENST00000597849.1_Silent_p.I66I|DPP9_ENST00000594671.1_Silent_p.I37I NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 37 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) TGCCGTGGATGATGCTCCGGA 0.672000 6 14 0 0 1 0 0 PMP22 5376 broad.mit.edu 37 17 15134242 15134242 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:15134242G>A ENST00000395938.2 - 5 669 c.475C>T c.(475-477)Cgc>Tgc p.R159C PMP22_ENST00000312280.3_Missense_Mutation_p.R159C|PMP22_ENST00000494511.1_Missense_Mutation_p.T99M|PMP22_ENST00000395936.1_3'UTR NM_153321.1 NP_696996.1 Q01453 PMP22_HUMAN peripheral myelin protein 22 159 peripheral nervous system development|synaptic transmission integral to membrane endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06) CCTCATTCGCGTTTCCGCAAG 0.547000 35 69 0 0 1 0 0 RAD54B 25788 broad.mit.edu 37 8 95392501 95392501 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:95392501T>C ENST00000336148.5 - 12 2243 c.2119A>G c.(2119-2121)Aac>Gac p.N707D NM_012415.3 NP_036547.1 O95073 FSBP_HUMAN RAD54 homolog B (S. cerevisiae) 0 double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TGTTGACTGTTAAAGCCATCA 0.358000 Direct reversal of damage;Homologous recombination 11 38 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21928211 21928211 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:21928211G>C ENST00000542643.2 - 22 1998 c.1696C>G c.(1696-1698)Cag>Gag p.Q566E RAP1GAP_ENST00000374763.2_Missense_Mutation_p.Q625E|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.Q571E|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.Q540E|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.Q604E NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 540 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GGGGAGCTCTGAGTGGATGAG 0.667000 10 36 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207793300 207793300 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:207793300G>C ENST00000367049.4 + 43 7142 c.7142G>C c.(7141-7143)gGa>gCa p.G2381A CR1_ENST00000367053.1_Missense_Mutation_p.G1931A|CR1_ENST00000367051.1_Missense_Mutation_p.G1931A|CR1_ENST00000400960.2_Missense_Mutation_p.G1931A|CR1_ENST00000367052.1_Missense_Mutation_p.G1931A NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1931 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TATCACTATGGAGATTATGTG 0.423000 5 21 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4715998 4715998 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:4715998G>A ENST00000354582.6 + 22 2919 c.2569G>A c.(2569-2571)Gat>Aat p.D857N ITPR1_ENST00000423119.2_Missense_Mutation_p.D857N|ITPR1_ENST00000456211.2_Missense_Mutation_p.D842N|ITPR1_ENST00000443694.2_Missense_Mutation_p.D842N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Missense_Mutation_p.D842N|ITPR1_ENST00000357086.4_Missense_Mutation_p.D857N Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 857 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CCCTTTCTCTGATAAAGAGAA 0.388000 3 19 0 0 1 0 0 ST5 6764 broad.mit.edu 37 11 8739320 8739320 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:8739320G>A ENST00000534127.1 - 8 1982 c.1597C>T c.(1597-1599)Cag>Tag p.Q533* ST5_ENST00000526099.1_Nonsense_Mutation_p.Q46*|ST5_ENST00000530438.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000526757.1_Nonsense_Mutation_p.Q113*|ST5_ENST00000357665.1_Nonsense_Mutation_p.Q533*|ST5_ENST00000530991.1_Nonsense_Mutation_p.Q5*|ST5_ENST00000313726.6_Nonsense_Mutation_p.Q533* NM_005418.3 NP_005409.3 P78524 ST5_HUMAN suppression of tumorigenicity 5 533 positive regulation of ERK1 and ERK2 cascade protein binding NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 39 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) TTCCTGTCCTGAGGACTCCAC 0.552000 14 42 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45736388 45736388 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:45736388C>T ENST00000403390.1 + 10 1058 c.1058C>T c.(1057-1059)tCt>tTt p.S353F PFKL_ENST00000349048.4_Missense_Mutation_p.S306F P17858 K6PL_HUMAN phosphofructokinase, liver 306 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) GGGACGCCCTCTGCCTTCGAC 0.657000 13 56 0 0 1 0 0 PAK2 5062 broad.mit.edu 37 3 196529932 196529932 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:196529932C>G ENST00000327134.3 + 4 655 c.333C>G c.(331-333)atC>atG p.I111M NM_002577.4 NP_002568.2 Q13177 PAK2_HUMAN p21 protein (Cdc42/Rac)-activated kinase 2 111 Autoregulatory region (By similarity).|GTPase-binding (By similarity). axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 12 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CCTCCAATATCACCAAACTAG 0.393000 11 57 0 0 1 0 0 NQO1 1728 broad.mit.edu 37 16 69752046 69752046 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:69752046C>T ENST00000320623.5 - 3 794 c.283G>A c.(283-285)Gca>Aca p.A95T NQO1_ENST00000379047.3_Missense_Mutation_p.A95T|NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T NM_000903.2 NP_000894.1 P15559 NQO1_HUMAN NAD(P)H dehydrogenase, quinone 1 95 nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process cytosol coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 10 Dicumarol(DB00266)|Menadione(DB00170) ACAAGGTCTGCGGCTTCCAGC 0.488000 5 312 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57919663 57919663 + Silent SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:57919663G>T ENST00000355673.3 + 6 1268 c.912G>T c.(910-912)ctG>ctT p.L304L MBD6_ENST00000431731.2_Silent_p.L304L NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 304 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TGGGGCCCCTGGGAGGGGCCC 0.692000 26 63 2.79863e-10 2.9319e-10 1 1 0 SPAG16 79582 broad.mit.edu 37 2 215013969 215013969 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:215013969G>A ENST00000331683.5 + 15 1794 c.1699G>A c.(1699-1701)Gag>Aag p.E567K SPAG16_ENST00000374309.3_Missense_Mutation_p.E473K NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 567 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) TCCTGGCAATGAGGTGAATTT 0.388000 14 64 0 0 1 0 0 PMS2 5395 broad.mit.edu 37 7 6045564 6045564 + Missense_Mutation SNP T T A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:6045564T>A ENST00000265849.7 - 2 227 c.122A>T c.(121-123)gAg>gTg p.E41V PMS2_ENST00000406569.3_Missense_Mutation_p.E41V|PMS2_ENST00000382321.4_Missense_Mutation_p.E41V|PMS2_ENST00000469652.1_Intron NM_000535.5 NP_000526.1 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 41 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTCTACTAACTCCTTTACCGC 0.433000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 101 276 0 0 1 0 0 ZNF440 126070 broad.mit.edu 37 19 11943217 11943217 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:11943217C>G ENST00000304060.5 + 4 1390 c.1226C>G c.(1225-1227)tCa>tGa p.S409* NM_152357.2 NP_689570.2 Q8IYI8 ZN440_HUMAN zinc finger protein 440 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 AGATCTGCCTCACACCTTCGA 0.458000 26 75 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217650 150217650 + Silent SNP C C T rs76395091 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:150217650C>T ENST00000313543.4 + 2 745 c.588C>T c.(586-588)aaC>aaT p.N196N NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 196 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCAGTGCAACGAAGGGGCTT 0.448000 14 44 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219221871 219221871 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:219221871G>A ENST00000289388.3 + 2 108 c.79G>A c.(79-81)Gag>Aag p.E27K AC021016.8_ENST00000411433.1_RNA NM_198559.1 NP_940961.1 Q7Z7H3 CB062_HUMAN chromosome 2 open reading frame 62 27 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCACTCCCAGAGGCCAATGC 0.632000 22 59 0 0 1 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27800738 27800738 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:27800738G>C ENST00000318304.8 + 6 717 c.434G>C c.(433-435)aGa>aCa p.R145T PPFIBP1_ENST00000537927.1_5'UTR|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000535047.1_Missense_Mutation_p.R145T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.R145T NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 145 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) GAAGAGCACAGAGAGAAGGTG 0.453000 41 103 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149771523 149771523 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:149771523G>A ENST00000451292.1 + 22 3520 c.3412G>A c.(3412-3414)Gac>Aac p.D1138N TCOF1_ENST00000504761.2_Missense_Mutation_p.D1101N|TCOF1_ENST00000377797.3_Missense_Mutation_p.D1101N|TCOF1_ENST00000323668.7_Missense_Mutation_p.D1024N|TCOF1_ENST00000439160.2_Missense_Mutation_p.D1063N|TCOF1_ENST00000445265.2_Missense_Mutation_p.D1024N|TCOF1_ENST00000513346.1_Missense_Mutation_p.D1100N Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1101 skeletal system development nucleolus protein binding|transporter activity NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAATTAGGTTGACAGTGCTGT 0.507000 15 35 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62910855 62910855 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:62910855C>T ENST00000339950.4 + 6 1819 c.1004C>T c.(1003-1005)tCa>tTa p.S335L USP1_ENST00000371146.1_Missense_Mutation_p.S335L NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 335 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) CAAAAGAAATCAAGAGTTAAA 0.328000 15 63 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30715709 30715709 + Missense_Mutation SNP A A G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:30715709A>G ENST00000295754.5 + 5 1749 c.1367A>G c.(1366-1368)gAa>gGa p.E456G TGFBR2_ENST00000359013.4_Missense_Mutation_p.E481G NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 456 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GTGCTCTGGGAAATGACATCT 0.463000 31 75 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129059037 129059037 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:129059037G>A ENST00000394422.3 + 12 1643 c.1615G>A c.(1615-1617)Gag>Aag p.E539K UTP14A_ENST00000425117.2_Missense_Mutation_p.E487K|UTP14A_ENST00000371051.5_Missense_Mutation_p.E485K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Missense_Mutation_p.E371K NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 539 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 GCAGCAGTCAGAGAGGACCCC 0.478000 48 158 0 0 1 0 0 RTF1 23168 broad.mit.edu 37 15 41762529 41762529 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:41762529G>A ENST00000389629.4 + 7 976 c.964G>A c.(964-966)Gac>Aac p.D322N NM_015138.4 NP_055953.3 Q92541 RTF1_HUMAN Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) 322 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) GGAAGAGGATGACAAATCCAG 0.433000 108 283 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670176 95670176 + Nonsense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:95670176G>A ENST00000298912.4 - 9 1623 c.1510C>T c.(1510-1512)Cag>Tag p.Q504* NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 504 integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) GAAGAAGACTGAGAATTATTG 0.463000 15 38 0 0 1 0 0 CDC37 11140 broad.mit.edu 37 19 10506687 10506687 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:10506687C>G ENST00000222005.2 - 2 348 c.295G>C c.(295-297)Gag>Cag p.E99Q NM_007065.3 NP_008996.1 Q16543 CDC37_HUMAN cell division cycle 37 99 protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway unfolded protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06) GBM - Glioblastoma multiforme(1328;0.0318) AGCTTCTGCTCCCAGCTCCGC 0.657000 44 171 0 0 1 0 0 BTAF1 9044 broad.mit.edu 37 10 93716353 93716353 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:93716353C>G ENST00000265990.6 + 7 1078 c.770C>G c.(769-771)tCt>tGt p.S257C NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 257 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) ATTAATCAGTCTGCAAATGAT 0.333000 14 25 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89843066 89843066 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:89843066C>T ENST00000310775.7 + 25 2758 c.2672C>T c.(2671-2673)tCa>tTa p.S891L FANCI_ENST00000300027.8_Missense_Mutation_p.S831L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 891 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) ATTCCTACTTCAGTGGAAGAG 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 24 60 0 0 1 0 0 CD274 29126 broad.mit.edu 37 9 5457237 5457237 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:5457237G>A ENST00000381577.3 + 3 297 c.211G>A c.(211-213)Gag>Aag p.E71K CD274_ENST00000498261.1_3'UTR|CD274_ENST00000381573.4_Intron NM_014143.3 NP_054862.1 Q9NZQ7 PD1L1_HUMAN CD274 molecule 71 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation endomembrane system|integral to membrane receptor activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 11 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111) TGTGCATGGAGAGGAAGACCT 0.443000 T CIITA """PMBL, Hodgkin Lymphona, """ 21 44 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47869116 47869116 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:47869116C>A ENST00000289672.2 - 44 6692 c.6642G>T c.(6640-6642)agG>agT p.R2214S NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2214 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGTCCAGATCCCTGGTAGCCT 0.468000 69 153 3.37205e-40 3.72255e-40 1 1 0 BTNL3 10917 broad.mit.edu 37 5 180432442 180432442 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:180432442G>C ENST00000342868.6 + 8 1155 c.971G>C c.(970-972)aGa>aCa p.R324T NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 324 B30.2/SPRY. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TCTGAGAAGAGATTTACAAGG 0.512000 33 88 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625892 29625892 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:29625892T>C ENST00000278882.3 + 5 516 c.136T>C c.(136-138)Tat>Cat p.Y46H FRG1B_ENST00000358464.4_Missense_Mutation_p.Y46H|FRG1B_ENST00000439954.2_Missense_Mutation_p.Y51H endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAATCTGGCTATGGAAAATA 0.348000 4 132 0 0 1 0 0 GNAT2 2780 broad.mit.edu 37 1 110152749 110152749 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:110152749G>A ENST00000351050.3 - 3 402 c.216C>T c.(214-216)atC>atT p.I72I NM_005272.3 NP_005263.1 P19087 GNAT2_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 72 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 14 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TTCCATAGATGATAGCCTTGA 0.502000 41 124 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46660792 46660792 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:46660792G>C ENST00000544460.1 + 1 5181 c.4927G>C c.(4927-4929)Gaa>Caa p.E1643Q TDRD6_ENST00000316081.6_Missense_Mutation_p.E1643Q NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1643 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TAACATTTCAGAAGGATTATG 0.403000 21 84 0 0 1 0 0 TUBGCP3 10426 broad.mit.edu 37 13 113140342 113140342 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:113140342G>C ENST00000261965.3 - 22 2875 c.2689C>G c.(2689-2691)Ctg>Gtg p.L897V NM_006322.4 NP_006313.1 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 897 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1) 25 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CTGGTACCCAGAGACACACGG 0.587000 12 12 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787168 73787168 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:73787168G>A ENST00000342056.2 + 4 1138 c.740G>A c.(739-741)cGa>cAa p.R247Q KCNQ5_ENST00000370398.1_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R247Q|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R247Q|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R247Q|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R247Q NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 247 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CGCATGGACCGAAGGGGAGGC 0.428000 11 44 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5461756 5461756 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:5461756C>G ENST00000296564.7 + 13 2531 c.2309C>G c.(2308-2310)tCa>tGa p.S770* NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 770 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GATTTCACATCATTAATAGGT 0.388000 9 15 0 0 1 0 0 CARD6 84674 broad.mit.edu 37 5 40853799 40853799 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:40853799C>T ENST00000254691.5 + 3 2564 c.2365C>T c.(2365-2367)Cat>Tat p.H789Y CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 789 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TCAATCCTTCCATCCCCAGAT 0.478000 92 244 0 0 1 0 0 JADE2 23338 broad.mit.edu 37 5 133900186 133900186 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:133900186C>T ENST00000395003.1 + 8 1034 c.855C>T c.(853-855)gtC>gtT p.V285V PHF15_ENST00000361895.2_Silent_p.V285V|PHF15_ENST00000282605.4_Silent_p.V285V|PHF15_ENST00000402835.1_Silent_p.V285V NM_015288.4 NP_056103.4 Q9NQC1 JADE2_HUMAN 285 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGCCCAGGTCAGCATCGGCT 0.597000 5 6 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45391565 45391565 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:45391565C>T ENST00000252483.5 + 9 1546 c.1546C>T c.(1546-1548)Ctg>Ttg p.L516L CTB-129P6.4_ENST00000585408.1_RNA NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 516 adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CTATGATGCTCTGTCCTATAG 0.557000 16 57 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57751071 57751071 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:57751071G>C ENST00000269122.3 + 15 2630 c.2356G>C c.(2356-2358)Gat>Cat p.D786H CLTC_ENST00000393043.1_Missense_Mutation_p.D786H|CLTC_ENST00000579456.1_Intron|CLTC_ENST00000579815.1_3'UTR NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 786 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CTTTGTCCATGATTTGGTGCT 0.294000 T """ALK, TFE3""" """ALCL, renal """ 15 32 0 0 1 0 0 ROCK1 6093 broad.mit.edu 37 18 18608843 18608843 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:18608843C>T ENST00000399799.1 - 10 2045 c.1105G>A c.(1105-1107)Gat>Aat p.D369N NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 369 AGC-kinase C-terminal.|Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) TCCAAGTCATCAAAATTACTA 0.328000 32 59 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123657442 123657442 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:123657442G>C ENST00000422452.2 - 17 2868 c.2805C>G c.(2803-2805)gtC>gtG p.V935V TENM1_ENST00000371130.3_Silent_p.V935V NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGATTAAGATGACAGAGATGC 0.403000 19 67 0 0 1 0 0 VPS53 55275 broad.mit.edu 37 17 613847 613847 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:613847G>C ENST00000437048.2 - 2 240 c.94C>G c.(94-96)Cca>Gca p.P32A VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Missense_Mutation_p.P32A|VPS53_ENST00000401468.3_Missense_Mutation_p.P32A|VPS53_ENST00000291074.5_Missense_Mutation_p.P32A|VPS53_ENST00000571805.1_Missense_Mutation_p.P32A NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 32 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TCCTGGCTTGGAAACACCTAT 0.378000 25 50 0 0 1 0 0 SLC6A9 6536 broad.mit.edu 37 1 44474213 44474213 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:44474213G>C ENST00000372310.3 - 5 567 c.402C>G c.(400-402)ttC>ttG p.F134L SLC6A9_ENST00000537678.1_Missense_Mutation_p.F69L|SLC6A9_ENST00000372307.3_Missense_Mutation_p.F69L|SLC6A9_ENST00000360584.2_Missense_Mutation_p.F207L|SLC6A9_ENST00000357730.2_Missense_Mutation_p.F153L|SLC6A9_ENST00000372306.3_Missense_Mutation_p.F134L|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_Missense_Mutation_p.F23L NM_001024845.2 NP_001020016.1 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 207 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TGGACGAGAAGAAGTAGTAGA 0.567000 20 59 0 0 1 0 0 NMNAT1 64802 broad.mit.edu 37 1 10042519 10042519 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:10042519G>A ENST00000377205.1 + 5 744 c.600G>A c.(598-600)tcG>tcA p.S200S NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 200 water-soluble vitamin metabolic process nucleoplasm ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding large_intestine(2)|lung(2)|stomach(1) 5 all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419) TCTATGAATCGGATGTGCTGT 0.473000 6 139 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62986551 62986551 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:62986551G>A ENST00000561311.1 + 13 1482 c.1252G>A c.(1252-1254)Gag>Aag p.E418K TLN2_ENST00000306829.6_Missense_Mutation_p.E418K Q9Y4G6 TLN2_HUMAN talin 2 418 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGAAGGTGATGAGGAGTCAAC 0.433000 12 29 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99662473 99662473 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:99662473C>A ENST00000373034.4 - 1 2798 c.1123G>T c.(1123-1125)Gat>Tat p.D375Y PCDH19_ENST00000420881.2_Missense_Mutation_p.D375Y|PCDH19_ENST00000255531.7_Missense_Mutation_p.D375Y NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 375 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 GAGTCGCGATCAGACACCCGC 0.587000 42 95 6.2361e-21 6.79901e-21 1 1 0 HDAC6 10013 broad.mit.edu 37 X 48661586 48661586 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:48661586G>A ENST00000334136.5 + 4 452 c.274G>A c.(274-276)Gag>Aag p.E92K HDAC6_ENST00000376619.2_Missense_Mutation_p.E92K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E106K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E37K|HDAC6_ENST00000469223.1_3'UTR Q9UBN7 HDAC6_HUMAN histone deacetylase 6 92 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) GGTGTTGGATGAGCAGTTAAA 0.488000 10 18 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56585722 56585722 + Missense_Mutation SNP T T C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr18:56585722T>C ENST00000336078.4 + 4 979 c.203T>C c.(202-204)gTt>gCt p.V68A ZNF532_ENST00000591083.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591808.1_Missense_Mutation_p.V68A|ZNF532_ENST00000591230.1_Missense_Mutation_p.V68A|ZNF532_ENST00000589288.1_Missense_Mutation_p.V68A NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GTCAAGAATGTTCGGAACATT 0.517000 16 39 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31728851 31728851 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:31728851C>T ENST00000320027.5 - 4 692 c.348G>A c.(346-348)caG>caA p.Q116Q HSPH1_ENST00000429785.2_Silent_p.Q13Q|HSPH1_ENST00000445273.2_Silent_p.Q118Q|HSPH1_ENST00000380406.5_Intron|HSPH1_ENST00000380405.4_Silent_p.Q116Q NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 116 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TGGCTGTTATCTGCTCCACAC 0.348000 17 43 0 0 1 0 0 INPP4B 8821 broad.mit.edu 37 4 143033698 143033698 + Missense_Mutation SNP T T G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:143033698T>G ENST00000513000.1 - 23 2706 c.2273A>C c.(2272-2274)gAa>gCa p.E758A INPP4B_ENST00000308502.4_Missense_Mutation_p.E758A|INPP4B_ENST00000262992.4_Missense_Mutation_p.E758A|INPP4B_ENST00000508116.1_Missense_Mutation_p.E758A|INPP4B_ENST00000509777.1_Missense_Mutation_p.E758A NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 758 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AGCTTACCTTTCAGCCAGAGT 0.373000 25 60 0 0 1 0 0 DSCC1 79075 broad.mit.edu 37 8 120862657 120862657 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:120862657C>G ENST00000313655.4 - 3 665 c.451G>C c.(451-453)Gac>Cac p.D151H NM_024094.2 NP_076999.2 Q9BVC3 DCC1_HUMAN DNA replication and sister chromatid cohesion 1 151 DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication chromatin|chromosome, centromeric region|nucleoplasm DNA binding|protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1) 9 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTTTGACTGTCAGGTCCTTCA 0.303000 14 40 0 0 1 0 0 FHIT 2272 broad.mit.edu 37 3 60522666 60522666 + Missense_Mutation SNP G G C rs149317894 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:60522666G>C ENST00000468189.1 - 5 400 c.30C>G c.(28-30)atC>atG p.I10M FHIT_ENST00000341848.4_Missense_Mutation_p.I10M|FHIT_ENST00000476844.1_Missense_Mutation_p.I10M|FHIT_ENST00000492590.1_Missense_Mutation_p.I10M P49789 FHIT_HUMAN fragile histidine triad 10 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) CAGAGGGCTTGATGAGATGTT 0.378000 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 17 42 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107390474 107390474 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:107390474C>T ENST00000429433.2 - 5 2570 c.1921G>A c.(1921-1923)Gag>Aag p.E641K BEND3_ENST00000369042.1_Missense_Mutation_p.E641K NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 641 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CGGCAGCGCTCATCCAGTTTG 0.652000 16 46 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384327 58384327 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:58384327C>T ENST00000435989.2 - 3 2665 c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 811 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CTGGAGCTTTCAGCAAAAGAT 0.388000 13 47 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50131609 50131609 + RNA SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:50131609G>A ENST00000376025.2 - 0 1993 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GTGTTGGATGGCAGCAGCCTA 0.498000 9 15 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2336736 2336736 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:2336736C>A ENST00000301732.5 - 22 3937 c.3237G>T c.(3235-3237)caG>caT p.Q1079H ABCA3_ENST00000382381.3_Missense_Mutation_p.Q1021H NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1079 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CGCTCCGGGGCTGGGGGAAGT 0.647000 45 113 1.06522e-23 1.1655e-23 1 1 0 SOX17 64321 broad.mit.edu 37 8 55372372 55372372 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:55372372C>A ENST00000297316.4 + 2 1266 c.1062C>A c.(1060-1062)ctC>ctA p.L354L NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 354 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) CCGCCGAGCTCCTCGGGGAGG 0.687000 7 19 1.26484e-09 1.32283e-09 1 1 0 USP34 9736 broad.mit.edu 37 2 61492647 61492647 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:61492647C>T ENST00000398571.2 - 43 5739 c.5663G>A c.(5662-5664)cGt>cAt p.R1888H NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 1888 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R1888H(1) autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACATTCAGCACGGACATCTTC 0.428000 30 106 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74350882 74350882 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:74350882C>A ENST00000263665.6 - 14 1888 c.1861G>T c.(1861-1863)Ggt>Tgt p.G621C NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 621 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TTGTCTTTACCTTCTTTCCAA 0.463000 14 66 1.49906e-05 1.52884e-05 1 1 0 OTOA 146183 broad.mit.edu 37 16 21742218 21742218 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:21742218C>T ENST00000388958.3 + 20 2269 c.2268C>T c.(2266-2268)ttC>ttT p.F756F OTOA_ENST00000286149.4_Silent_p.F770F|OTOA_ENST00000388956.4_Silent_p.F677F|OTOA_ENST00000388957.3_Silent_p.F432F NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 770 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) TAGTACTTTTCTCAGGAGATG 0.428000 8 8 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60194227 60194227 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:60194227G>A ENST00000267484.5 - 3 1510 c.1175C>T c.(1174-1176)cCg>cTg p.P392L NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 392 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity p.P392L(1) central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GATGGTTGGCGGTCCGGACCT 0.672000 3 8 0 0 1 0 0 NAALADL2 254827 broad.mit.edu 37 3 175189432 175189432 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:175189432C>G ENST00000454872.1 + 9 1667 c.1539C>G c.(1537-1539)ttC>ttG p.F513L NAALADL2_ENST00000473253.1_3'UTR NM_207015.2 NP_996898.2 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 2 513 proteolysis integral to membrane peptidase activity central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 49 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) TTCAGGATTTCAAGAAGGTTC 0.333000 7 12 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73572554 73572554 + Silent SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:73572554C>G ENST00000224721.6 + 67 9560 c.9555C>G c.(9553-9555)gtC>gtG p.V3185V CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Silent_p.V940V NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3180 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CAGCAGCTGTCAAGCCTGATG 0.592000 8 21 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176301330 176301330 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:176301330C>T ENST00000329542.4 + 8 1415 c.1141C>T c.(1141-1143)Ctc>Ttc p.L381F UNC5A_ENST00000261961.3_Missense_Mutation_p.L341F NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 381 apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCAGGGCAGTCTCTGTCCCCG 0.642000 49 150 0 0 1 0 0 RC3H1 149041 broad.mit.edu 37 1 173952772 173952772 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:173952772G>C ENST00000367696.2 - 4 727 c.376C>G c.(376-378)Cag>Gag p.Q126E RC3H1_ENST00000367694.2_Missense_Mutation_p.Q126E|RC3H1_ENST00000258349.4_Missense_Mutation_p.Q126E Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 126 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 AGAACACTCTGAGTAGTGCTG 0.458000 18 64 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20599966 20599966 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:20599966C>T ENST00000504154.1 + 33 3892 c.3640C>T c.(3640-3642)Cgt>Tgt p.R1214C SLIT2_ENST00000503837.1_Missense_Mutation_p.R1210C|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1206C|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1227C NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1214 Laminin G-like. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTATCGGGGGCGTGTTCGTGC 0.473000 41 114 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40078724 40078724 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:40078724G>C ENST00000324616.5 + 10 1496 c.1342G>C c.(1342-1344)Gat>Cat p.D448H C12orf40_ENST00000405531.3_Missense_Mutation_p.D448H NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 448 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CTTTGGACTTGATGAGGTAAA 0.353000 23 39 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4510825 4510825 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:4510825G>C ENST00000301286.3 - 3 3104 c.3105C>G c.(3103-3105)ctC>ctG p.L1035L NM_001080400.1 NP_001073869.1 Q96Q06 PLIN4_HUMAN perilipin 4 1035 lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GGAAGGTGCTGAGGCCAGTGT 0.622000 13 67 0 0 1 0 0 KLHL31 401265 broad.mit.edu 37 6 53519582 53519582 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:53519582C>T ENST00000370905.3 - 2 629 c.489G>A c.(487-489)ctG>ctA p.L163L KLHL31_ENST00000407079.1_Silent_p.L163L NM_001003760.4 NP_001003760.2 Q9H511 KLH31_HUMAN kelch-like family member 31 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3) 20 Lung NSC(77;0.0158) TCTCCCGTATCAGAAAATCAC 0.383000 18 86 0 0 1 0 0 TMEM47 83604 broad.mit.edu 37 X 34657458 34657458 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:34657458G>C ENST00000275954.3 - 2 531 c.273C>G c.(271-273)atC>atG p.I91M NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 91 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAATGAGAATGATGGCAGCGC 0.448000 5 14 0 0 1 0 0 RWDD1 51389 broad.mit.edu 37 6 116910017 116910017 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:116910017C>G ENST00000466444.2 + 4 499 c.283C>G c.(283-285)Ctt>Gtt p.L95V RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR NM_015952.2 NP_057036.2 Q9H446 RWDD1_HUMAN RWD domain containing 1 95 RWD. protein binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1) 12 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161) TGAAGAAAATCTTGGTATGGT 0.289000 22 40 0 0 1 0 0 EMC7 56851 broad.mit.edu 37 15 34382527 34382527 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr15:34382527C>T ENST00000256545.4 - 3 594 c.486G>A c.(484-486)atG>atA p.M162I NM_020154.2 NP_064539.1 ER membrane protein complex subunit 7 CCATTGGGTTCATTAGAAAGT 0.408000 18 64 0 0 1 0 0 DBNDD1 79007 broad.mit.edu 37 16 90075219 90075219 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:90075219C>T ENST00000392973.3 - 2 1041 c.310G>A c.(310-312)Gag>Aag p.E104K DBNDD1_ENST00000304733.3_Missense_Mutation_p.E118K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E98K|DBNDD1_ENST00000568838.1_Missense_Mutation_p.E218K Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 98 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) TTGAGGTTCTCGTCGTCCGAG 0.647000 6 15 0 0 1 0 0 C2orf15 150590 broad.mit.edu 37 2 99763938 99763938 + Nonsense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:99763938C>G ENST00000302513.2 + 3 644 c.8C>G c.(7-9)tCa>tGa p.S3* TSGA10_ENST00000393483.3_Intron|C2orf15_ENST00000409684.1_Nonsense_Mutation_p.S3* NM_144706.2 NP_653307.1 Q8WU43 CB015_HUMAN chromosome 2 open reading frame 15 3 autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1) 6 TTCATGTCCTCAACTCTGGGG 0.403000 18 61 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148456685 148456685 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:148456685G>A ENST00000325222.4 + 6 859 c.580G>A c.(580-582)Gaa>Aaa p.E194K CUL1_ENST00000602748.1_Missense_Mutation_p.E194K|CUL1_ENST00000409469.1_Missense_Mutation_p.E194K NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 194 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AAGGAATGGTGAAACCATCAA 0.289000 15 34 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39564678 39564678 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:39564678C>G ENST00000263881.3 - 5 679 c.355G>C c.(355-357)Gaa>Caa p.E119Q MAP4K3_ENST00000341681.5_Missense_Mutation_p.E119Q|MAP4K3_ENST00000437545.1_Missense_Mutation_p.E56Q NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 119 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TGCAGTGTTTCTCTGCTAACA 0.318000 8 34 0 0 1 0 0 ANKRD24 170961 broad.mit.edu 37 19 4224440 4224440 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:4224440G>C ENST00000600132.1 + 22 3655 c.3379G>C c.(3379-3381)Gat>Cat p.D1127H ANKRD24_ENST00000318934.4_Missense_Mutation_p.D1127H|ANKRD24_ENST00000262970.5_Missense_Mutation_p.D1217H NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1127 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GATGGATGAAGATGTGCAGCG 0.592000 10 14 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67802233 67802233 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:67802233C>G ENST00000544246.1 - 2 1031 c.340G>C c.(340-342)Gag>Cag p.E114Q PCDH9_ENST00000377865.2_Missense_Mutation_p.E114Q|PCDH9_ENST00000328454.5_Missense_Mutation_p.E114Q|PCDH9_ENST00000377861.3_Missense_Mutation_p.E114Q|PCDH9_ENST00000456367.1_Missense_Mutation_p.E114Q NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 114 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ATCACCACCTCAAGTTCAAAG 0.423000 33 80 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152679603 152679603 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:152679603C>T ENST00000367255.5 - 66 11114 c.10513G>A c.(10513-10515)Gaa>Aaa p.E3505K SYNE1_ENST00000448038.1_Missense_Mutation_p.E3512K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3505K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3476K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3512K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3505 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACCAAACTTCAAATGCCTTT 0.418000 HNSCC(10;0.0054) 44 90 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79032926 79032926 + Nonsense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:79032926G>T ENST00000446378.2 + 2 8369 c.8338G>T c.(8338-8340)Gaa>Taa p.E2780* NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2780 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TATCACAAAAGAAAGTATGAA 0.388000 16 23 1.52009e-12 1.60889e-12 1 1 0 EBP 10682 broad.mit.edu 37 X 48382451 48382451 + Missense_Mutation SNP T T A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:48382451T>A ENST00000495186.1 + 2 1115 c.292T>A c.(292-294)Tct>Act p.S98T EBP_ENST00000276096.6_3'UTR NM_006579.2 NP_006570.1 Q15125 EBP_HUMAN emopamil binding protein (sterol isomerase) 98 cholesterol biosynthetic process|skeletal system development endoplasmic reticulum membrane|integral to plasma membrane cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1) 11 AGCCTTCTTATCTCAACTCTG 0.498000 17 25 0 0 1 0 0 TSPEAR 54084 broad.mit.edu 37 21 45949754 45949754 + Silent SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:45949754C>A ENST00000323084.4 - 5 782 c.717G>T c.(715-717)gtG>gtT p.V239V TSPEAR_ENST00000397916.1_Silent_p.V171V NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 239 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GGATGGACAGCACCGCCAGCG 0.642000 11 45 7.03913e-09 7.33689e-09 1 1 0 TNFRSF8 943 broad.mit.edu 37 1 12172069 12172069 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:12172069G>C ENST00000263932.2 + 7 1013 c.791G>C c.(790-792)cGa>cCa p.R264P TNFRSF8_ENST00000417814.2_Missense_Mutation_p.R153P NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 264 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGCTGTTCTCGAGGTAAGGGC 0.577000 13 39 0 0 1 0 0 C5orf22 55322 broad.mit.edu 37 5 31538724 31538724 + Silent SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:31538724G>C ENST00000325366.9 + 4 862 c.735G>C c.(733-735)ggG>ggC p.G245G C5orf22_ENST00000355907.3_5'UTR NM_018356.2 NP_060826.2 Q49AR2 CE022_HUMAN chromosome 5 open reading frame 22 245 kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1) 18 TGAAGAAAGGGAAGGCATTTG 0.368000 10 19 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166231294 166231294 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:166231294C>T ENST00000375437.2 + 22 4362 c.4072C>T c.(4072-4074)Ctc>Ttc p.L1358F SCN2A_ENST00000375427.2_Missense_Mutation_p.L1358F|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1358F|SCN2A_ENST00000357398.3_Missense_Mutation_p.L1358F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1358 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GGGAGTGAATCTCTTTGCTGG 0.388000 31 64 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23390051 23390051 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:23390051C>G ENST00000343070.2 + 11 1605 c.1429C>G c.(1429-1431)Cag>Gag p.Q477E SCNN1B_ENST00000568923.1_Missense_Mutation_p.Q450E|SCNN1B_ENST00000568085.1_Missense_Mutation_p.Q441E|SCNN1B_ENST00000307331.5_Missense_Mutation_p.Q522E NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 477 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CGTCTTGTCTCAGGAGCGGGA 0.592000 11 57 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50664171 50664171 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr16:50664171G>C ENST00000268459.3 + 7 761 c.537G>C c.(535-537)aaG>aaC p.K179N NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 179 Interaction with DVL1, DVL2 and DVL3 (By similarity). Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) CATCCAGCAAGATGCTGCGGG 0.602000 32 75 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81624189 81624189 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:81624189C>T ENST00000356860.3 - 20 2067 c.1729G>A c.(1729-1731)Gat>Aat p.D577N CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D596N NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 596 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CTTACCTCATCTTGAGATTTA 0.274000 13 26 0 0 1 0 0 ODC1 4953 broad.mit.edu 37 2 10583894 10583894 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:10583894G>A ENST00000234111.4 - 6 1028 c.518C>T c.(517-519)aCg>aTg p.T173M ODC1_ENST00000405333.1_Missense_Mutation_p.T173M NM_002539.1 NP_002530.1 P11926 DCOR_HUMAN ornithine decarboxylase 1 173 polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus cytosol ornithine decarboxylase activity|protein binding NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161) Pyridoxal Phosphate(DB00114)|Spermine(DB00127) GGTTCTGAGCGTGGCACCGAA 0.483000 36 95 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79910685 79910685 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:79910685G>A ENST00000360280.3 + 33 3995 c.3735G>A c.(3733-3735)atG>atA p.M1245I VPS13A_ENST00000357409.5_Missense_Mutation_p.M1245I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M1206I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M1245I|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1245 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CCTTTCATATGATAACAGAGA 0.383000 18 50 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30572460 30572460 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:30572460G>C ENST00000376511.2 - 12 1559 c.1007C>G c.(1006-1008)tCt>tGt p.S336C NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 336 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TTCTGGGGAAGAAGGTTTGGC 0.527000 95 253 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83850048 83850048 + Nonsense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:83850048C>T ENST00000349129.2 + 23 5601 c.5341C>T c.(5341-5343)Caa>Taa p.Q1781* DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q1772*|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q1762* NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1781 Q -> L (in dbSNP:rs9444039). protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CATACTGCATCAAGCTGATTC 0.408000 44 77 0 0 1 0 0 KIAA0196 9897 broad.mit.edu 37 8 126071480 126071480 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:126071480C>G ENST00000318410.7 - 14 2097 c.1748G>C c.(1747-1749)aGa>aCa p.R583T KIAA0196_ENST00000517845.1_Missense_Mutation_p.R435T NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 583 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) GAAGGTAGCTCTGAGTTTAGT 0.393000 10 31 0 0 1 0 0 GNRHR 2798 broad.mit.edu 37 4 68619908 68619908 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:68619908G>C ENST00000226413.4 - 1 170 c.146C>G c.(145-147)tCt>tGt p.S49C GNRHR_ENST00000420975.2_Missense_Mutation_p.S49C|RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 49 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) AAAGGTCGCAGAGAGCAGAAA 0.448000 27 103 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5797843 5797843 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:5797843G>T ENST00000339450.5 - 13 2449 c.2360C>A c.(2359-2361)tCt>tAt p.S787Y ERMP1_ENST00000543230.1_Missense_Mutation_p.S365Y|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 787 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CAATTTTATAGAATCCCAAGG 0.353000 36 123 1.30015e-28 1.42762e-28 1 1 0 ZNF16 7564 broad.mit.edu 37 8 146156489 146156489 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:146156489G>C ENST00000276816.4 - 4 1870 c.1684C>G c.(1684-1686)Cag>Gag p.Q562E ZNF16_ENST00000394909.2_Missense_Mutation_p.Q562E NM_001029976.2 NP_001025147.2 P17020 ZNF16_HUMAN zinc finger protein 16 562 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1) 29 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CTCTGATGCTGAATGAGGGTT 0.478000 18 62 0 0 1 0 0 MRPS23 51649 broad.mit.edu 37 17 55926767 55926767 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:55926767G>A ENST00000313608.8 - 2 94 c.49C>T c.(49-51)Cgg>Tgg p.R17W MRPS23_ENST00000578444.1_Missense_Mutation_p.R17W NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 17 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) ACCAGGTCCCGAGTCCTTAGG 0.562000 17 53 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100811824 100811824 + Missense_Mutation SNP C C A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr12:100811824C>A ENST00000323346.5 + 11 1628 c.1315C>A c.(1315-1317)Ctg>Atg p.L439M SLC17A8_ENST00000392989.3_Missense_Mutation_p.L389M|SLC17A8_ENST00000552697.1_3'UTR NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 439 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TGTCAACCACCTGGACATTGC 0.473000 24 67 4.26978e-12 4.51146e-12 1 1 0 METTL2B 55798 broad.mit.edu 37 7 128119444 128119444 + Silent SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr7:128119444G>A ENST00000480046.1 + 2 355 c.240G>A c.(238-240)tcG>tcA p.S80S METTL2B_ENST00000262432.8_Silent_p.S145S Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 145 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 AGTGTTCTTCGAAGAGCCTTG 0.408000 14 115 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65486346 65486346 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:65486346G>C ENST00000519389.1 + 21 3650 c.3471G>C c.(3469-3471)aaG>aaC p.K1157N HEPH_ENST00000336279.5_Missense_Mutation_p.K836N|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103N|HEPH_ENST00000419594.1_Missense_Mutation_p.K914N|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105N|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106N Q9BQS7 HEPH_HUMAN hephaestin 1103 cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.K1103N(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 TCCCCATAAAGAATGTTGAGA 0.483000 28 48 0 0 1 0 0 AWAT1 158833 broad.mit.edu 37 X 69459589 69459589 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:69459589C>T ENST00000374521.3 + 6 678 c.637C>T c.(637-639)Cat>Tat p.H213Y NM_001013579.2 NP_001013597.1 Q58HT5 AWAT1_HUMAN acyl-CoA wax alcohol acyltransferase 1 213 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1) 15 CTACAGGGCTCATCTGGTCCC 0.473000 34 83 0 0 1 0 0 ZNF449 203523 broad.mit.edu 37 X 134494649 134494649 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:134494649C>G ENST00000339249.4 + 5 1345 c.1205C>G c.(1204-1206)tCt>tGt p.S402C NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 402 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGAACCCATTCTGAAGAAGAA 0.408000 39 130 0 0 1 0 0 CXorf40A 91966 broad.mit.edu 37 X 148627327 148627327 + Translation_Start_Site SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:148627327G>A ENST00000428236.1 + 0 214 CXorf40A_ENST00000423421.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000422892.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000423540.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000434353.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000514208.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000450602.2_Missense_Mutation_p.D51N|CXorf40A_ENST00000441248.1_Missense_Mutation_p.D51N|CXorf40A_ENST00000359293.5_Missense_Mutation_p.D51N|CXorf40A_ENST00000393985.3_Missense_Mutation_p.D51N Q8TE69 CX04A_HUMAN chromosome X open reading frame 40A protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) CTGGGAAGGCGATGCCTGGCG 0.582000 33 84 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6943159 6943159 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:6943159G>C ENST00000317834.3 + 1 955 c.927G>C c.(925-927)agG>agC p.R309S NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ATAGCTTGAGGAACAAAGATG 0.423000 22 74 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318246 30318246 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:30318246C>T ENST00000375377.1 - 3 932 c.831G>A c.(829-831)aaG>aaA p.K277K NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 277 Pro-rich. breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 AGCAGCCACTCTTCTCAGAAT 0.537000 22 87 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50318532 50318532 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:50318532C>T ENST00000404971.1 - 20 5106 c.3767G>A c.(3766-3768)cGt>cAt p.R1256H NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1216 Laminin G-like 6. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.R1257H(1)|p.R181H(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCTCGTGAAACGAACTACATG 0.473000 42 140 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12006125 12006125 + Splice_Site SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:12006125C>T ENST00000356352.2 - 10 2541 c.e10-1 UPF2_ENST00000357604.5_Splice_Site|UPF2_ENST00000397053.2_Splice_Site Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) ACAGAAGCATCTGCAACAGGA 0.403000 26 85 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48649309 48649309 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:48649309C>T ENST00000352832.5 + 5 1029 c.657C>T c.(655-657)ttC>ttT p.F219F CACNA1G_ENST00000502264.1_Silent_p.F219F|CACNA1G_ENST00000510366.1_Silent_p.F219F|CACNA1G_ENST00000507609.1_Silent_p.F219F|CACNA1G_ENST00000507896.1_Silent_p.F219F|CACNA1G_ENST00000514181.1_Silent_p.F219F|CACNA1G_ENST00000507510.2_Silent_p.F219F|CACNA1G_ENST00000503485.1_Silent_p.F219F|CACNA1G_ENST00000507336.1_Silent_p.F219F|CACNA1G_ENST00000354983.4_Silent_p.F219F|CACNA1G_ENST00000515765.1_Silent_p.F219F|CACNA1G_ENST00000510115.1_Silent_p.F219F|CACNA1G_ENST00000429973.2_Silent_p.F219F|CACNA1G_ENST00000505165.1_Silent_p.F219F|CACNA1G_ENST00000360761.4_Silent_p.F219F|CACNA1G_ENST00000513689.2_Silent_p.F219F|CACNA1G_ENST00000359106.5_Silent_p.F219F|CACNA1G_ENST00000442258.2_Silent_p.F219F|CACNA1G_ENST00000514079.1_Silent_p.F219F|CACNA1G_ENST00000513964.1_Silent_p.F219F|CACNA1G_ENST00000515165.1_Silent_p.F219F|CACNA1G_ENST00000416767.4_Silent_p.F219F|CACNA1G_ENST00000515411.1_Silent_p.F219F|CACNA1G_ENST00000514717.1_Silent_p.F219F|CACNA1G_ENST00000358244.5_Silent_p.F219F|CACNA1G_ENST00000512389.1_Silent_p.F219F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 219 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGCTCTGCTTCTTCGTCTTCT 0.602000 19 62 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230909 38230909 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:38230909G>T ENST00000339503.4 - 8 809 c.308C>A c.(307-309)cCc>cAc p.P103H ZNF573_ENST00000392138.1_Missense_Mutation_p.P74H|ZNF573_ENST00000590414.2_Missense_Mutation_p.P161H|ZNF573_ENST00000536220.1_Missense_Mutation_p.P73H|ZNF573_ENST00000585724.1_3'UTR|ZNF573_ENST00000357309.3_Missense_Mutation_p.P73H NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) GCATTCATAGGGTCTCTCAAT 0.353000 22 65 8.04996e-18 8.66918e-18 1 1 0 WDR19 57728 broad.mit.edu 37 4 39230269 39230269 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr4:39230269C>T ENST00000399820.3 + 17 2095 c.1941C>T c.(1939-1941)gaC>gaT p.D647D WDR19_ENST00000288634.7_Silent_p.D487D|WDR19_ENST00000515631.1_3'UTR NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 647 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 CGGGGCCTGACGAACTGAGAC 0.418000 25 115 0 0 1 0 0 FZD7 8324 broad.mit.edu 37 2 202899764 202899764 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:202899764G>C ENST00000286201.1 + 1 455 c.394G>C c.(394-396)Gag>Cag p.E132Q NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 132 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CCAGGGCTGCGAGGCGCTCAT 0.657000 OREG0015146 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 101 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10910342 10910342 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:10910342G>C ENST00000298232.7 - 21 1727 c.1360C>G c.(1360-1362)Ctg>Gtg p.L454V TPTE_ENST00000361285.4_Missense_Mutation_p.L472V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.L434V NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 472 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCATCATACAGAGGTAGACCG 0.338000 13 127 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77652273 77652273 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:77652273G>A ENST00000534064.1 - 9 977 c.943C>T c.(943-945)Cat>Tat p.H315Y INTS4_ENST00000529807.1_Missense_Mutation_p.H315Y NM_033547.3 NP_291025.3 Q96HW7 INT4_HUMAN integrator complex subunit 4 315 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TCCAAGAAATGAGAACTGACT 0.358000 12 28 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7866996 7866996 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:7866996C>G ENST00000264669.5 - 2 1337 c.1201G>C c.(1201-1203)Gaa>Caa p.E401Q FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 401 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GAAAATTTTTCTGTTTGGCAA 0.403000 19 52 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319300 123319300 + Missense_Mutation SNP G G T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:123319300G>T ENST00000275162.4 + 2 1713 c.378G>T c.(376-378)tgG>tgT p.W126C CLVS2_ENST00000368438.1_Intron NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 126 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.W126C(2) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CTGCCAATTGGGATCAGAGCA 0.468000 19 39 2.94398e-08 3.05817e-08 1 1 0 FZD2 2535 broad.mit.edu 37 17 42635642 42635642 + Missense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:42635642G>C ENST00000315323.3 + 1 718 c.586G>C c.(586-588)Gag>Cag p.E196Q NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 196 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CGCCACGCTGGAGCACCCCTT 0.736000 7 9 0 0 1 0 0 WDR34 89891 broad.mit.edu 37 9 131396030 131396030 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr9:131396030G>A ENST00000372715.2 - 9 1664 c.1604C>T c.(1603-1605)gCg>gTg p.A535V NM_052844.3 NP_443076.2 Q96EX3 WDR34_HUMAN WD repeat domain 34 535 cytoplasm central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1) 9 CCCTCAGGCCGCCACCTCTGC 0.617000 5 286 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890958 51890958 + Nonsense_Mutation SNP G G C TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:51890958G>C ENST00000371117.3 - 32 3925 c.3650C>G c.(3649-3651)tCa>tGa p.S1217* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.S1217* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1217 IPT/TIG 7. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GCCTATTCCTGAGATGCTGAG 0.458000 22 50 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738832 33738832 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr17:33738832G>A ENST00000394562.1 - 6 1785 c.1262C>T c.(1261-1263)tCa>tTa p.S421L SLFN12_ENST00000304905.5_Missense_Mutation_p.S421L|SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.S421L Q8IYM2 SLN12_HUMAN schlafen family member 12 421 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAAGATCAGTGAGCCCTTTCT 0.438000 40 80 0 0 1 0 0 SOAT1 6646 broad.mit.edu 37 1 179319497 179319497 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr1:179319497G>A ENST00000367619.3 + 14 1524 c.1381G>A c.(1381-1383)Gaa>Aaa p.E461K SOAT1_ENST00000539888.1_Missense_Mutation_p.E396K|SOAT1_ENST00000535686.1_Missense_Mutation_p.E197K|SOAT1_ENST00000540564.1_Missense_Mutation_p.E403K NM_003101.5 NP_003092.4 P35610 SOAT1_HUMAN sterol O-acyltransferase 1 461 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1) 20 Ezetimibe(DB00973)|Hesperetin(DB01094) TGTAGTACACGAATATGCCTT 0.398000 15 38 0 0 1 0 0 SPSB4 92369 broad.mit.edu 37 3 140785393 140785393 + Silent SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:140785393C>T ENST00000310546.2 + 2 1191 c.447C>T c.(445-447)ctC>ctT p.L149L NM_080862.1 NP_543138.1 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box containing 4 149 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1) 4 GCAGCCGCCTCTACCACGACG 0.716000 3 4 0 0 1 0 0 HLA-B 3106 broad.mit.edu 37 6 31324681 31324681 + Missense_Mutation SNP C C T rs137854653 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:31324681C>T ENST00000412585.2 - 2 155 c.127G>A c.(127-129)Gag>Aag p.E43K NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 AAGCGGGGCTCCCCGCGGCCG 0.701000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 40 17 0 0 1 0 0 TGFBR2 7048 broad.mit.edu 37 3 30732942 30732942 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:30732942G>A ENST00000295754.5 + 7 1937 c.1555G>A c.(1555-1557)Gag>Aag p.E519K TGFBR2_ENST00000359013.4_Missense_Mutation_p.E544K NM_003242.5 NP_003233.4 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II (70/80kDa) 519 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.E519K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 GACGTTGACTGAGTGCTGGGA 0.617000 13 43 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111696154 111696154 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:111696154C>G ENST00000435970.1 - 15 3986 c.3170G>C c.(3169-3171)aGa>aCa p.R1057T REV3L_ENST00000368802.3_Missense_Mutation_p.R1135T|REV3L_ENST00000368805.1_Missense_Mutation_p.R1135T|REV3L_ENST00000358835.3_Missense_Mutation_p.R1135T O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1135 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TTCTTCAGCTCTTGGATCTGT 0.388000 DNA polymerases (catalytic subunits) 33 102 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225666675 225666675 + Frame_Shift_Del DEL A A - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr2:225666675delA ENST00000409592.3 - 40 4446 c.4333delT c.(4333-4335)ctfs p.S1445fs DOCK10_ENST00000258390.7_Frame_Shift_Del_p.S1451fs Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1451 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTGGGGTTAGAAAGTGCATTT 0.373 31 73 --- --- --- --- COL6A5 256076 broad.mit.edu 37 3 130159322 130159322 + Frame_Shift_Del DEL C C - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr3:130159322delC ENST00000265379.6 + 35 6634 c.6140delC c.(6139-6141)atfs p.T2047fs COL6A5_ENST00000432398.2_Frame_Shift_Del_p.T2047fs A8TX70 CO6A5_HUMAN collagen, type VI, alpha 5 2047 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 CACATCCAGACTTCCTTCCAA 0.408 22 51 --- --- --- --- KCNN2 3781 broad.mit.edu 37 5 113699651 113699653 + In_Frame_Del DEL ATC ATC - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:113699651_113699653delATC ENST00000512097.3 + 3 1553_1555 c.535_537delATC c.(535-537)del p.I180del KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_In_Frame_Del_p.I180del Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 180 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TCTCTCCACGATCATCCTGCTCG 0.478 31 80 --- --- --- --- PITX1 5307 broad.mit.edu 37 5 134364847 134364848 + Frame_Shift_Ins INS - - A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr5:134364847_134364848insA ENST00000265340.7 - 3 982_983 c.566_567insT c.(565-567)cgcfs p.R189fs PITX1_ENST00000506438.1_Frame_Shift_Ins_p.R189fs NM_002653.4 NP_002644.4 P78337 PITX1_HUMAN paired-like homeodomain 1 189 Interacts with PIT-1 (By similarity). nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) GCGCTGGCGCCAGGCTCTTGGC 0.629 20 72 --- --- --- --- HIST1H2BN 8341 broad.mit.edu 37 6 27806507 27806509 + In_Frame_Del DEL AGA AGA - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:27806507_27806509delAGA ENST00000606613.1 + 1 129_131 c.68_70delAGA c.(67-72)cag>c p.QK23del HIST1H2BN_ENST00000396980.3_In_Frame_Del_p.QK23del Q99877 H2B1N_HUMAN histone cluster 1, H2bn 23 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1) 8 ACAAAGGCCCAGAAGAAGGACGG 0.581 64 194 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142860298 142860299 + RNA INS - - T rs143051118 by1000genomes TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr6:142860298_142860299insT ENST00000447311.1 - 0 364 NR_027312.1 ttaggccagtatttttttttta 0.470 2 4 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 --- --- --- --- THNSL1 79896 broad.mit.edu 37 10 25312196 25312197 + Frame_Shift_Del DEL AG AG - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:25312196_25312197delAG ENST00000524413.1 + 3 391_392 c.44_45delAG c.(43-45)cfs p.Q15fs THNSL1_ENST00000376356.4_Frame_Shift_Del_p.Q15fs Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 15 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AAGATAACACAGAAATGTTTTT 0.366 18 63 --- --- --- --- ZMIZ1 57178 broad.mit.edu 37 10 81070787 81070789 + In_Frame_Del DEL CTC CTC - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr10:81070787_81070789delCTC ENST00000334512.5 + 24 3514_3516 c.2942_2944delCTC c.(2941-2946)gct>g p.AP981del ZMIZ1_ENST00000446377.2_Intron NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 981 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CACAGTGGGGCTCCTCCTCCTCC 0.635 7 216 --- --- --- --- OR9G1 390174 broad.mit.edu 37 11 56468763 56468764 + Frame_Shift_Ins INS - - A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:56468763_56468764insA ENST00000312153.1 + 1 900_901 c.900_901insA c.(898-903)ctaaaafs p.LK300fs NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 AAGAGGCTCTGAAAAAACTTCT 0.376 10 123 --- --- --- --- MTA2 9219 broad.mit.edu 37 11 62363756 62363756 + Frame_Shift_Del DEL G G - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr11:62363756delG ENST00000278823.2 - 11 1400 c.1011delC c.(1009-1011)ccfs p.P337fs MTA2_ENST00000527204.1_Frame_Shift_Del_p.P164fs|MTA2_ENST00000524902.1_Frame_Shift_Del_p.P164fs NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 337 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 CTTACTAGGTGGGAATGTAGA 0.502 17 23 --- --- --- --- UFM1 51569 broad.mit.edu 37 13 38933471 38933474 + Splice_Site DEL GTGA GTGA - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr13:38933471_38933474delGTGA ENST00000379641.1 + 4 244 c.e4+1 UFM1_ENST00000379649.1_Splice_Site|UFM1_ENST00000239878.4_Splice_Site P61960 UFM1_HUMAN ubiquitin-fold modifier 1 protein ufmylation cytoplasm|nucleus protein binding lung(2)|ovary(1) 3 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) CAGACTGCTGGTGAGTATTTGAAA 0.314 30 97 --- --- --- --- LOC101929735 101929735 broad.mit.edu 37 14 22892202 22892202 + RNA DEL A A - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr14:22892202delA ENST00000514473.2 - 0 225 AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA ctaaaaatacaaaaaaaaaaa 0.547 2 4 --- --- --- --- ARHGEF18 23370 broad.mit.edu 37 19 7527213 7527216 + Frame_Shift_Del DEL GAGC GAGC - rs2303140 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:7527213_7527216delGAGC ENST00000359920.6 + 11 2317_2320 c.2064_2067delGAGC c.(2062-2067)atfs p.MS688fs CTD-2207O23.3_ENST00000593531.1_Frame_Shift_Del_p.*A646fs|ARHGEF18_ENST00000319670.9_Frame_Shift_Del_p.MS530fs NM_001130955.1 NP_001124427.1 Q6ZSZ5 ARHGI_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 18 688 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.M530I(1)|p.M688I(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 23 Renal(5;0.0902) AGTCGGCCATGAGCGAGAGTAAGT 0.652 8 31 --- --- --- --- POLD1 5424 broad.mit.edu 37 19 50902177 50902178 + In_Frame_Ins INS - - GAT TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:50902177_50902178insGAT ENST00000440232.2 + 2 122_123 c.69_70insGAT c.(67-72)tgatga>tgGATatga p.23_23*>WI POLD1_ENST00000599857.1_In_Frame_Ins_p.23_23*>WI|POLD1_ENST00000595904.1_In_Frame_Ins_p.23_23*>WI NM_001256849.1|NM_002691.3 NP_001243778.1|NP_002682.2 P28340 DPOD1_HUMAN polymerase (DNA directed), delta 1, catalytic subunit 23 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGGGCCTCTGGGATGATGATGA 0.653 DNA polymerases (catalytic subunits) 3 5 --- --- --- --- LILRB2 10288 broad.mit.edu 37 19 54780707 54780709 + In_Frame_Del DEL GAG GAG - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr19:54780707_54780709delGAG ENST00000391748.1 - 10 1559_1561 c.1432_1434delCTC c.(1432-1434)del p.L478del LILRB2_ENST00000391746.1_In_Frame_Del_p.L479del|LILRB2_ENST00000434421.1_In_Frame_Del_p.L363del|LILRB2_ENST00000314446.5_In_Frame_Del_p.L478del|LILRB2_ENST00000391749.4_In_Frame_Del_p.L479del NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 479 cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.L479L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) ggatgaggaagaggaggaggagg 0.611 8 170 --- --- --- --- NPEPL1 79716 broad.mit.edu 37 20 57282209 57282209 + Frame_Shift_Del DEL G G - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr20:57282209delG ENST00000356091.6 + 7 1141 c.853delG c.(853-855)ggfs p.G286fs STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Frame_Shift_Del_p.G258fs|NPEPL1_ENST00000525817.1_Frame_Shift_Del_p.G238fs NM_024663.3 NP_078939.3 Q8NDH3 PEPL1_HUMAN aminopeptidase-like 1 286 proteolysis cytoplasm aminopeptidase activity|manganese ion binding|metalloexopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109) GCGAGACTGCGGGGGTGCTGC 0.682 2 4 --- --- --- --- ETS2 2114 broad.mit.edu 37 21 40190567 40190568 + Frame_Shift_Del DEL TC TC - TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr21:40190567_40190568delTC ENST00000360214.3 + 8 1268_1269 c.808_809delTC c.(808-810)tfs p.S270fs ETS2_ENST00000360938.3_Frame_Shift_Del_p.S270fs NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 270 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) CACCAACAATTCTGGTAAGATT 0.470 69 152 --- --- --- --- LINC01399 104310353 broad.mit.edu 37 22 35561021 35561021 + RNA DEL C C - rs71191344 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chr22:35561021delC ENST00000423311.1 - 0 512 ttgctccactcccacttatgg 0.507 4 3 --- --- --- --- UBL4A 8266 broad.mit.edu 37 X 153714159 153714160 + Frame_Shift_Ins INS - - G rs150392222 TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60487985-a4da-4a09-8583-4c0d0614a514 dd1380d3-ddbc-4ea5-af5e-28c485cb7002 g.chrX:153714159_153714160insG ENST00000369660.4 - 3 398_399 c.313_314insC c.(313-315)ccafs p.P105fs UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Frame_Shift_Ins_p.P105fs NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 105 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACTGAAGTGGCGGGCCAAGACT 0.629 8 262 --- --- --- ---