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 OR4C13 283092 broad.mit.edu 37 11 49974721 49974721 + Silent SNP T T C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:49974721T>C ENST00000555099.1 + 1 779 c.747T>C c.(745-747)ttT>ttC p.F249F NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCTTATCCTTTATACCCTGCA 0.438000 141 197 0 0 1 0 0 MSTO1 55154 broad.mit.edu 37 1 155582849 155582849 + Missense_Mutation SNP G G T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:155582849G>T ENST00000245564.2 + 11 1132 c.1108G>T c.(1108-1110)Gca>Tca p.A370S MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron NM_001256532.1|NM_001256533.1|NM_018116.3 NP_001243461.1|NP_001243462.1|NP_060586.2 Q9BUK6 MSTO1_HUMAN misato 1, mitochondrial distribution and morphology regulator 370 mitochondrion distribution|protein polymerization mitochondrial outer membrane|protein complex breast(2)|endometrium(1)|lung(3)|skin(1) 7 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) GGTGGTGACAGCAGGAGCAAT 0.517000 6 167 5.68852e-11 6.48492e-11 1 1 0 TMX1 81542 broad.mit.edu 37 14 51713839 51713839 + Missense_Mutation SNP A A G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr14:51713839A>G ENST00000457354.2 + 4 469 c.344A>G c.(343-345)cAg>cGg p.Q115R NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 115 Thioredoxin. anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 AGGCGCTATCAGGGTCCAAGG 0.338000 4 204 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113484839 113484839 + Missense_Mutation SNP T T C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr8:113484839T>C ENST00000297405.5 - 32 5620 c.5376A>G c.(5374-5376)atA>atG p.I1792M CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1792 CUB 10. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTGGAACTGCTATAGAATAAA 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 46 288 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113484933 113484933 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr8:113484933G>A ENST00000297405.5 - 32 5526 c.5282C>T c.(5281-5283)cCc>cTc p.P1761L CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1761 integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ACTTCCACAGGGCGCTAGGAA 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 184 0 0 1 0 0 RNF20 56254 broad.mit.edu 37 9 104307093 104307093 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr9:104307093C>T ENST00000389120.3 + 6 763 c.673C>T c.(673-675)Ctc>Ttc p.L225F NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 225 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GAACTCTTTCCTCGCACAGGA 0.413000 5 157 0 0 1 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098001 78098001 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:78098001G>A ENST00000370801.3 - 5 1514 c.1039C>T c.(1039-1041)Cca>Tca p.P347S ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 347 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P347S(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 CCGGAGGCTGGCATACTCTCA 0.443000 4 247 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95531654 95531654 + Missense_Mutation SNP A A C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr8:95531654A>C ENST00000297591.5 - 9 2147 c.2072T>G c.(2071-2073)aTt>aGt p.I691S KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 691 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TGTTACTGGAATTGACAGAAG 0.408000 84 118 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7639259 7639259 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr12:7639259G>A ENST00000359156.4 - 10 2496 c.2294C>T c.(2293-2295)gCc>gTc p.A765V CD163_ENST00000396620.3_Missense_Mutation_p.A798V|CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 765 SRCR 7. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GGCATTAATGGCCTCTCCACA 0.537000 41 218 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114208764 114208764 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr4:114208764G>A ENST00000357077.4 + 19 2136 c.2083G>A c.(2083-2085)Gga>Aga p.G695R ANK2_ENST00000394537.3_Missense_Mutation_p.G695R|ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 695 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTGTAGAGTGGACTCACATC 0.348000 10 95 0 0 1 0 0 PCSK4 54760 broad.mit.edu 37 19 1487226 1487226 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr19:1487226C>T ENST00000300954.5 - 7 830 c.769G>A c.(769-771)Gcc>Acc p.A257T PCSK4_ENST00000587784.1_5'UTR NM_017573.3 NP_060043.2 Q6UW60 PCSK4_HUMAN proprotein convertase subtilisin/kexin type 4 257 Catalytic (By similarity). proteolysis integral to membrane serine-type endopeptidase activity cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 15 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCAGCTGGCGCTGTAAATG 0.682000 25 17 0 0 1 0 0 ZNF254 9534 broad.mit.edu 37 19 24309234 24309234 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr19:24309234G>A ENST00000357002.4 + 4 547 c.432G>A c.(430-432)caG>caA p.Q144Q ZNF254_ENST00000342944.6_Silent_p.Q59Q NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2 NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3 O75437 ZN254_HUMAN zinc finger protein 254 144 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186) GACTTAACCAGTGTTTCACAA 0.313000 4 196 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107040253 107040253 + Silent SNP A A G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr2:107040253A>G ENST00000409886.3 - 20 4257 c.4170T>C c.(4168-4170)aaT>aaC p.N1390N RGPD3_ENST00000304514.7_Silent_p.N1390N NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1390 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GAACGTGCTTATTATCATAAT 0.353000 10 891 0 0 1 0 0 SLC10A7 84068 broad.mit.edu 37 4 147431123 147431123 + Missense_Mutation SNP T T C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr4:147431123T>C ENST00000432059.2 - 3 508 c.262A>G c.(262-264)Ata>Gta p.I88V SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 88 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) AAAAGCCATATTGTTGCTGGG 0.368000 86 71 0 0 1 0 0 NRP1 8829 broad.mit.edu 37 10 33619800 33619800 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr10:33619800G>A ENST00000265371.4 - 3 609 c.84C>T c.(82-84)ggC>ggT p.G28G NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000395995.1_Silent_p.G28G O14786 NRP1_HUMAN neuropilin 1 28 CUB 1. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 48 Palifermin(DB00039)|Pegaptanib(DB04895) TTATAGTATCGCCACATTTAT 0.378000 36 90 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74347348 74347348 + Missense_Mutation SNP G G C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr9:74347348G>C ENST00000377044.4 - 7 2021 c.1482C>G c.(1480-1482)atC>atG p.I494M TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 494 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CTTCTCCTTGGATCACAATAT 0.438000 78 96 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 621209 621209 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:621209G>A ENST00000358353.3 - 8 982 c.660C>T c.(658-660)acC>acT p.T220T CDHR5_ENST00000397542.2_Silent_p.T220T|CDHR5_ENST00000349570.7_Silent_p.T220T Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 220 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 CTAGTGTGGCGGTGGCAGTGT 0.652000 52 56 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108773717 108773717 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr3:108773717G>A ENST00000232603.5 - 14 1270 c.1188C>T c.(1186-1188)ggC>ggT p.G396G MORC1_ENST00000483760.1_Silent_p.G396G NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 396 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTCCAACCACGCCTGCGCCAA 0.308000 63 102 0 0 1 0 0 RER1 11079 broad.mit.edu 37 1 2334543 2334543 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:2334543G>A ENST00000605895.1 + 7 704 c.571G>A c.(571-573)Ggc>Agc p.G191S RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 191 HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). retrograde vesicle-mediated transport, Golgi to ER integral to Golgi membrane endometrium(3)|kidney(1) 4 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204) GGAGGATGCCGGCAAGGCCTT 0.498000 4 156 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr20:29628245G>A ENST00000278882.3 + 6 627 c.247G>A c.(247-249)Gcc>Acc p.A83T FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 7 281 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277784 186277784 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:186277784C>T ENST00000445192.2 + 7 2978 c.2933C>T c.(2932-2934)aCa>aTa p.T978I PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I|PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 978 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACTCTTAAAACAACTACTCTT 0.353000 122 179 0 0 1 0 0 PLEKHA8 84725 broad.mit.edu 37 7 30085837 30085837 + Missense_Mutation SNP G G C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr7:30085837G>C ENST00000449726.1 + 3 519 c.169G>C c.(169-171)Gat>Cat p.D57H PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR NM_001197027.1 NP_001183956.1 Q96JA3 PKHA8_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 57 PH. protein transport cytoplasm glycolipid binding|glycolipid transporter activity breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 17 TCATTCTGTAGATAATACACG 0.517000 108 132 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88911830 88911830 + Missense_Mutation SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr10:88911830C>A ENST00000298786.4 + 3 833 c.719C>A c.(718-720)aCa>aAa p.T240K FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 240 p.T240K(2) endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 TCAACTGATACAGAATTTCTC 0.388000 4 127 1 1 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 74 99 0 0 1 0 0 CLCN4 0 broad.mit.edu 37 X 10181805 10181805 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chrX:10181805C>T ENST00000380833.4 + 11 2052 c.1661C>T c.(1660-1662)gCg>gTg p.A554V CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V|CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 554 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCCCTGATGGCGGCGGCTGTG 0.537000 75 127 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11098863 11098863 + RNA SNP A A G rs75318310 by1000genomes TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr21:11098863A>G ENST00000470054.1 - 0 62 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccagcctccaactcccccttc 0.627000 7 23 0 0 1 0 0 SLC22A9 114571 broad.mit.edu 37 11 63149682 63149682 + Missense_Mutation SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:63149682C>A ENST00000279178.3 + 6 1255 c.1006C>A c.(1006-1008)Cct>Act p.P336T SLC22A9_ENST00000310969.4_3'UTR NM_080866.2 NP_543142.2 Q8IVM8 S22A9_HUMAN solute carrier family 22 (organic anion transporter), member 9 336 transmembrane transport integral to membrane breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1) 18 AAAAAAAAAACCTTCTCTGTG 0.388000 6 369 0.0381472 0.0402665 1 1 0 FLG2 388698 broad.mit.edu 37 1 152324784 152324784 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:152324784G>A ENST00000388718.5 - 3 5550 c.5478C>T c.(5476-5478)caC>caT p.H1826H FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1826 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CAGCCTGGCCGTGAGTGTGTC 0.512000 244 239 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63092622 63092622 + Missense_Mutation SNP G G T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr15:63092622G>T ENST00000561311.1 + 48 6520 c.6290G>T c.(6289-6291)aGt>aTt p.S2097I TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I Q9Y4G6 TLN2_HUMAN talin 2 2097 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 GATCTCATCAGTGCTACCAAG 0.552000 7 229 0.0293803 0.0315977 1 1 0 TP53 7157 broad.mit.edu 37 17 7579361 7579361 + Missense_Mutation SNP A A G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr17:7579361A>G ENST00000420246.2 - 4 458 c.326T>C c.(325-327)tTc>tCc p.F109S TP53_ENST00000269305.4_Missense_Mutation_p.F109S|TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 109 Interaction with HIPK1 (By similarity).|Interaction with WWOX. F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCAGACGGAAACCGTAGCT 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 118 14 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5428387 5428387 + Missense_Mutation SNP G G C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr18:5428387G>C ENST00000341928.2 - 9 1330 c.990C>G c.(988-990)aaC>aaG p.N330K EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 330 FERM. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 AGGCAAATCTGTTTATTCGCA 0.428000 10 320 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30668317 30668317 + Silent SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr6:30668317C>A ENST00000376406.3 - 15 6842 c.6195G>T c.(6193-6195)ctG>ctT p.L2065L MDC1_ENST00000376405.2_Silent_p.L1801L NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 2065 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTCCAGTCAGCAGGAACTCAG 0.572000 Other conserved DNA damage response genes 87 170 2.38877e-28 2.89702e-28 1 1 0 NUBP2 10101 broad.mit.edu 37 16 1838702 1838702 + Missense_Mutation SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr16:1838702C>A ENST00000262302.9 + 7 923 c.803C>A c.(802-804)gCg>gAg p.A268E NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E NM_012225.2 NP_036357.1 Q9Y5Y2 NUBP2_HUMAN nucleotide binding protein 2 268 microtubule organizing center|nucleus 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 6 GCGACGCCCGCGTGCCTCCCC 0.652000 3 53 1 1 1 1 0 HSP90AB2P 0 broad.mit.edu 37 4 13338289 13338289 + RNA SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr4:13338289C>A ENST00000602906.1 + 0 307 kidney(3)|lung(1) 4 CCTAACAGACCCTTCCAAGTT 0.433000 35 101 7.11191e-15 8.44539e-15 1 1 0 SLC16A1 6566 broad.mit.edu 37 1 113460447 113460447 + Missense_Mutation SNP A A G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:113460447A>G ENST00000538576.1 - 4 1412 c.581T>C c.(580-582)cTc>cCc p.L194P SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P|SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 194 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) TGGTCGCATGAGGGCTCCAGC 0.488000 4 168 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2202239 2202239 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr17:2202239C>T ENST00000544865.1 - 2 2225 c.1715G>A c.(1714-1716)cGc>cAc p.R572H SMG6_ENST00000263073.5_Missense_Mutation_p.R603H Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 603 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CGGACTGATGCGGTCCCTGGA 0.582000 6 479 0 0 1 0 0 PCDHB6 0 broad.mit.edu 37 5 140531282 140531282 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr5:140531282G>A ENST00000231136.1 + 1 1444 c.1444G>A c.(1444-1446)Gcc>Acc p.A482T PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 482 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGCATCAACGCCCAGGTCAC 0.642000 184 225 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20370088 20370088 + RNA SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr19:20370088G>A ENST00000593655.1 - 0 199 GACCCATCCCGCAGAAAGCAC 0.413000 4 101 0 0 1 0 0 MCF2 4168 broad.mit.edu 37 X 138697040 138697040 + Splice_Site SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chrX:138697040C>A ENST00000520602.1 - 13 1828 c.1543_splice c.e13+1 p.G515_splice MCF2_ENST00000536274.1_Splice_Site_p.G416_splice|MCF2_ENST00000414978.1_Splice_Site_p.G515_splice|MCF2_ENST00000370578.4_Splice_Site_p.G600_splice|MCF2_ENST00000370576.4_Splice_Site_p.G455_splice|MCF2_ENST00000519895.1_Splice_Site_p.V515_splice|MCF2_ENST00000370573.4_Splice_Site_p.G455_splice|MCF2_ENST00000338585.6_Splice_Site_p.V455_splice|MCF2_ENST00000483690.1_5'UTR P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 455 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) GACATTTTACCTTGTTTAGAT 0.363000 5 277 0.184627 0.191341 1 1 0 EMID1 129080 broad.mit.edu 37 22 29629640 29629640 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr22:29629640G>A ENST00000334018.6 + 10 1139 c.951G>A c.(949-951)ggG>ggA p.G317G EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 315 Collagen-like. collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GTGTCCCTGGGAGTCCTGGTC 0.522000 25 46 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T T C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr20:29628243T>C ENST00000278882.3 + 6 625 c.245T>C c.(244-246)tTg>tCg p.L82S FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 7 281 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974720 49974720 + Missense_Mutation SNP T T A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:49974720T>A ENST00000555099.1 + 1 778 c.746T>A c.(745-747)tTt>tAt p.F249Y NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ATCTTATCCTTTATACCCTGC 0.438000 138 200 0 0 1 0 0 ITGAL 0 broad.mit.edu 37 16 30505561 30505561 + Silent SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr16:30505561G>A ENST00000356798.6 + 12 1422 c.1242G>A c.(1240-1242)cgG>cgA p.R414R ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000568012.1_3'UTR NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 414 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TGCCCTCCCGGCAAAAGACTT 0.617000 6 157 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104062907 104062907 + Splice_Site SNP C C A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr4:104062907C>A ENST00000265148.3 - 35 5552 c.5463_splice c.e35+1 p.K1821_splice CENPE_ENST00000380026.3_Splice_Site_p.K1796_splice NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1821 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) ATAAAAATACCTTTTCTTGTA 0.313000 7 103 0.0293803 0.0315977 1 1 0 TPTE 7179 broad.mit.edu 37 21 10941931 10941931 + Missense_Mutation SNP A A T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr21:10941931A>T ENST00000298232.7 - 13 1085 c.718T>A c.(718-720)Tct>Act p.S240T TPTE_ENST00000361285.4_Missense_Mutation_p.S258T|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 258 Phosphatase 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) CTATAGAAAGACTGCCTTCCA 0.313000 5 560 0 0 1 0 0 CELA3A 10136 broad.mit.edu 37 1 22336270 22336270 + Missense_Mutation SNP G G C TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr1:22336270G>C ENST00000290122.3 + 7 734 c.715G>C c.(715-717)Gtt>Ctt p.V239L NM_005747.4 NP_005738.4 chymotrypsin-like elastase family, member 3A endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GACCAGCTTTGTTTCTGCCTT 0.612000 3 86 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50682829 50682829 + Splice_Site SNP A A G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr6:50682829A>G ENST00000008391.3 + 2 268 c.39_splice c.e2-1 p.I14_splice NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 14 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TTCCTTCCAGATACGTCACGA 0.527000 6 172 0 0 1 0 0 OR10W1 81341 broad.mit.edu 37 11 58034747 58034747 + Missense_Mutation SNP A A T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:58034747A>T ENST00000395079.2 - 1 985 c.584T>A c.(583-585)aTa>aAa p.I195K NM_207374.3 NP_997257.2 Q8NGF6 O10W1_HUMAN olfactory receptor, family 10, subfamily W, member 1 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1) 26 Breast(21;0.0589) AATGGCTAGTATGGCTGCCAC 0.547000 36 36 0 0 1 0 0 PTH1R 5745 broad.mit.edu 37 3 46944925 46944925 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr3:46944925C>T ENST00000313049.5 + 14 1764 c.1561C>T c.(1561-1563)Cgc>Tgc p.R521C PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000449590.1_Missense_Mutation_p.R521C Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 521 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CCTCAGCCCCCGCCTACTGCC 0.682000 50 60 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179319178 179319178 + Missense_Mutation SNP G G A TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr2:179319178G>A ENST00000409117.3 + 3 687 c.331G>A c.(331-333)Gca>Aca p.A111T DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 111 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AGATTCCATTGCAGTGAAAGC 0.348000 6 157 0 0 1 0 0 GRB7 2886 broad.mit.edu 37 17 37902419 37902419 + Missense_Mutation SNP C C T TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr17:37902419C>T ENST00000309185.3 + 13 1578 c.1328C>T c.(1327-1329)gCc>gTc p.A443V GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000309156.4_Silent_p.C472C Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 0 SH2. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity p.C472C(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TCTCTTTGTGCCACCTGCAGA 0.587000 5 237 0 0 1 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 125 --- --- --- --- SDHAP1 0 broad.mit.edu 37 3 195690462 195690463 + RNA INS - - G TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr3:195690462_195690463insG ENST00000427841.1 - 0 2203 NR_003264.2 catgcgcaacaggggactgtaa 0.366 2 4 --- --- --- --- BANK1 55024 broad.mit.edu 37 4 102791660 102791661 + Splice_Site DEL AG AG - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr4:102791660_102791661delAG ENST00000504592.1 + 9 1136 c.e9-1 BANK1_ENST00000322953.4_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GTTTTTCATAAGAGTTTCCTGC 0.342 87 107 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)del p.Q1022del GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.660 7 146 --- --- --- --- PHF10 55274 broad.mit.edu 37 6 170115929 170115930 + Frame_Shift_Del DEL TC TC - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr6:170115929_170115930delTC ENST00000339209.4 - 6 690_691 c.567_568delGA c.(565-570)caaafs p.QK189fs PHF10_ENST00000366780.4_Frame_Shift_Del_p.QK187fs NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 189 SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) GCTTCAACTTTCTGAGTATTCT 0.351 66 22 --- --- --- --- TRIM21 6737 broad.mit.edu 37 11 4409705 4409705 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr11:4409705delT ENST00000254436.7 - 4 672 c.560delA c.(559-561)acfs p.N187fs TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 187 cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGAAGTTTTTTTGCTG 0.483 8 656 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)del p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 7 285 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 4 7 --- --- --- --- CRELD2 79174 broad.mit.edu 37 22 50315936 50315973 + Splice_Site DEL CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG - rs71805922 by1000genomes TCGA-TQ-A7RF-01A-11D-A33T-08 TCGA-TQ-A7RF-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f 91c432f5-7d2f-45c4-8e8d-bc36f4fc9180 g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG ENST00000404488.3 + 6 727_756 c.592_splice c.e6-1 p.198_splice CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron NM_001135101.1 NP_001128573.1 Q6UXH1 CREL2_HUMAN cysteine-rich with EGF-like domains 2 197 endoplasmic reticulum|extracellular region calcium ion binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3) 9 all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236) BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247) TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC 0.622 3 6 --- --- --- ---