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 HYI 81888 broad.mit.edu 37 1 43917930 43917930 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:43917930C>G ENST00000372425.4 - 3 567 c.372G>C c.(370-372)gaG>gaC p.E124D HYI_ENST00000372426.1_Missense_Mutation_p.E76D|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.E149D|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000583037.1_Missense_Mutation_p.E51D|HYI_ENST00000372432.1_Missense_Mutation_p.E124D|HYI_ENST00000486909.1_Missense_Mutation_p.E124D Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 124 hydroxypyruvate isomerase activity p.E51D(1)|p.E124D(1) large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGCCTCCATCTCAGCCTTGA 0.562000 7 27 0 0 0.029380 0 0 BRMS1 25855 broad.mit.edu 37 11 66105149 66105149 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:66105149G>C ENST00000425825.2 - 10 1017 c.863C>G c.(862-864)cCg>cGg p.P288R BRMS1_ENST00000359957.3_3'UTR|RP11-867G23.12_ENST00000526655.1_RNA NM_001024957.1 NP_001020128.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 0 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding p.P288R(1) large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 TCAGCTCCACGGCCACAGCTG 0.662000 13 17 0 0 0.093190 0 0 SEC31A 22872 broad.mit.edu 37 4 83776177 83776177 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:83776177G>A ENST00000432794.1 - 17 2050 c.1887C>T c.(1885-1887)atC>atT p.I629I SEC31A_ENST00000311785.7_Silent_p.I629I|SEC31A_ENST00000500777.2_Silent_p.I590I|SEC31A_ENST00000448323.1_Silent_p.I629I|SEC31A_ENST00000505472.1_Silent_p.I629I|SEC31A_ENST00000513858.1_Silent_p.I590I|SEC31A_ENST00000326950.5_Silent_p.I590I|SEC31A_ENST00000264405.5_Silent_p.I362I|SEC31A_ENST00000509142.1_Silent_p.I629I|SEC31A_ENST00000505984.1_Silent_p.I590I|SEC31A_ENST00000355196.2_Silent_p.I629I|SEC31A_ENST00000348405.4_Silent_p.I590I|SEC31A_ENST00000395310.2_Silent_p.I629I|SEC31A_ENST00000443462.2_Silent_p.I624I|SEC31A_ENST00000508479.1_Silent_p.I629I|SEC31A_ENST00000508502.1_Silent_p.I629I O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 629 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I629I(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CCACTGCAGTGATGAGCTTGA 0.348000 7 34 0 0 0.029380 0 0 SCNN1B 6338 broad.mit.edu 37 16 23387131 23387131 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:23387131C>T ENST00000343070.2 + 8 1401 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S SCNN1B_ENST00000568085.1_Missense_Mutation_p.P373S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P382S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P454S NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 409 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding p.P409S(1) 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) GTACCCACTGCCCCGTGGGGA 0.617000 4 169 0 0 0.009096 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42410144 42410144 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:42410144G>A ENST00000599846.1 + 27 2751 c.2626G>A c.(2626-2628)Gag>Aag p.E876K ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E820K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E787K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E835K|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E802K Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 820 S -> R (in Ref. 3; CAA70356). cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.E835K(1) breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACCAGGCCCCGAGGGCCAGCT 0.642000 26 125 0 0 0.034045 0 0 NUDT14 256281 broad.mit.edu 37 14 105644073 105644073 + Splice_Site SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:105644073C>T ENST00000392568.2 - 2 175 c.e2-1 RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity p.?(1) cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GGGCACCATTCTAGAAGGGGC 0.617000 HNSCC(42;0.11) 50 159 0 0 0.048971 0 0 CRNKL1 51340 broad.mit.edu 37 20 20026049 20026049 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:20026049C>T ENST00000377340.2 - 7 1218 c.1187G>A c.(1186-1188)cGg>cAg p.R396Q CRNKL1_ENST00000377327.4_Missense_Mutation_p.R384Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R235Q NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 396 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding p.R396L(1)|p.R396Q(1) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 ATACACTTTCCGTGCATGGGC 0.418000 44 190 0 0 0.104719 0 0 FKBP5 2289 broad.mit.edu 37 6 35554818 35554818 + Missense_Mutation SNP T T C rs61753297 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:35554818T>C ENST00000542713.1 - 7 899 c.742A>G c.(742-744)Act>Gct p.T248A FKBP5_ENST00000357266.4_Missense_Mutation_p.Y278C|FKBP5_ENST00000539068.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y99C|FKBP5_ENST00000536438.1_Missense_Mutation_p.Y278C NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 0 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity p.Y278C(1)|p.T248A(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CACCTTGAAGTATACGGTTCC 0.408000 95 91 0 0 0.048971 0 0 MCM3AP 8888 broad.mit.edu 37 21 47674341 47674341 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:47674341C>T ENST00000397708.1 - 20 4355 c.4101G>A c.(4099-4101)ccG>ccA p.P1367P MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.P1367P|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1367 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.P1367P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCTCTACATCCGGCAACACCA 0.617000 9 153 0 0 0.047766 0 0 FLG 2312 broad.mit.edu 37 1 152276103 152276103 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:152276103C>A ENST00000368799.1 - 3 11294 c.11259G>T c.(11257-11259)gaG>gaT p.E3753D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3753 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.E3753D(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCCTCTTGGGACG 0.617000 Ichthyosis 155 941 6.42063e-57 7.49738e-57 0.048971 1 0 TGM2 7052 broad.mit.edu 37 20 36758657 36758657 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:36758657C>T ENST00000361475.2 - 13 2201 c.2028G>A c.(2026-2028)gtG>gtA p.V676V TGM2_ENST00000536701.1_Silent_p.V595V|TGM2_ENST00000536724.1_Silent_p.V616V NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 676 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity p.V676V(1) endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GGAAGCCCTTCACAGCCTTCA 0.587000 4 31 0 0 0.009096 0 0 SCAPER 49855 broad.mit.edu 37 15 77025725 77025725 + Splice_Site SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:77025725C>G ENST00000538941.2 - 16 2068 c.1129G>C c.(1129-1131)Gta>Cta p.V377L SCAPER_ENST00000563290.1_Splice_Site_p.V623L|SCAPER_ENST00000324767.7_Splice_Site_p.V623L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 622 endoplasmic reticulum|nucleus zinc ion binding p.V623L(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ATTTCATTTACCTTTAAAAAA 0.348000 7 63 0 0 0.029380 0 0 LRRC29 26231 broad.mit.edu 37 16 67242311 67242311 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:67242311A>G ENST00000409037.1 - 2 1085 c.189T>C c.(187-189)tgT>tgC p.C63C LRRC29_ENST00000409509.1_Silent_p.C63C|LRRC29_ENST00000393992.1_Silent_p.C63C|LRRC29_ENST00000341546.3_Silent_p.C63C Q8WV35 LRC29_HUMAN leucine rich repeat containing 29 63 p.C63C(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTGGCTCTGGACAGGCGTCCT 0.592000 3 187 0 0 0.004672 0 0 TRPM5 29850 broad.mit.edu 37 11 2439011 2439011 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:2439011C>G ENST00000452833.1 - 7 969 c.961G>C c.(961-963)Gag>Cag p.E321Q TRPM5_ENST00000155858.6_Missense_Mutation_p.E319Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000528453.1_Missense_Mutation_p.E319Q Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 319 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity p.E319Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCTCCTGCTCGAAGTCATAC 0.662000 5 18 0 0 0.029380 0 0 SVIL 6840 broad.mit.edu 37 10 29777621 29777621 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:29777621G>A ENST00000375398.2 - 25 4706 c.4257C>T c.(4255-4257)agC>agT p.S1419S SVIL_ENST00000355867.4_Silent_p.S1419S|SVIL_ENST00000375400.3_Silent_p.S993S|SVIL_ENST00000535393.1_Silent_p.S333S|SVIL_ENST00000538146.1_Silent_p.S211S O95425 SVIL_HUMAN supervillin 1419 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.S1419S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGCTGACGTTGCTGAAGTTTT 0.507000 10 35 0 0 0.080935 0 0 ANK2 287 broad.mit.edu 37 4 114290876 114290876 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:114290876G>A ENST00000357077.4 + 43 11578 c.11525G>A c.(11524-11526)cGg>cAg p.R3842Q ANK2_ENST00000506722.1_Missense_Mutation_p.R1748Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1757Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R409Q|ANK2_ENST00000509550.1_Missense_Mutation_p.R933Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3809Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3809 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R3842Q(1) 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) AGCTCTCCGCGGAAAACCAGC 0.532000 11 68 0 0 0.080935 0 0 AP1B1 162 broad.mit.edu 37 22 29730359 29730359 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:29730359G>C ENST00000357586.2 - 17 2390 c.2204C>G c.(2203-2205)tCa>tGa p.S735* AP1B1_ENST00000405198.1_Nonsense_Mutation_p.S735*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S728* NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 735 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity p.S735*(1) endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAAGGTGCCTGAGATCTCCAG 0.617000 13 37 0 0 0.093190 0 0 CD300LF 146722 broad.mit.edu 37 17 72691301 72691301 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:72691301G>A ENST00000326165.6 - 7 918 c.807C>T c.(805-807)ctC>ctT p.L269L CD300LF_ENST00000469092.1_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000343125.4_3'UTR|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Silent_p.L272L|CD300LF_ENST00000583937.1_Silent_p.L284L|CD300LF_ENST00000301573.9_3'UTR NM_139018.3 NP_620587.2 Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 269 integral to membrane|plasma membrane receptor activity p.L269L(2) endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGTGGCTACTGAGGTGGCCCA 0.602000 26 90 0 0 0.030593 0 0 ZNF99 7652 broad.mit.edu 37 19 22939544 22939544 + Missense_Mutation SNP A A C rs58378942 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:22939544A>C ENST00000397104.3 - 7 2626 c.2627T>G c.(2626-2628)aTg>aGg p.M876R zinc finger protein 99 p.M876R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTATGTTTCATAAGGGTTGA 0.343000 3 69 0 0 0.004672 0 0 HLA-A 3105 broad.mit.edu 37 6 29911314 29911314 + Missense_Mutation SNP C C T rs66792072 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:29911314C>T ENST00000396634.1 + 5 954 c.613C>T c.(613-615)Cgc>Tgc p.R205C HLA-A_ENST00000376809.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376802.2_Missense_Mutation_p.R205C P30443 1A01_HUMAN major histocompatibility complex, class I, A 205 Alpha-2. R -> H (in dbSNP:rs17185861). 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 p.R205C(1) 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 GACGCTGCAGCGCACGGGTAC 0.652000 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) 8 80 0 0 0.047766 0 0 DOCK9 23348 broad.mit.edu 37 13 99520199 99520199 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:99520199C>T ENST00000376460.1 - 29 3237 c.3157G>A c.(3157-3159)Gct>Act p.A1053T DOCK9_ENST00000442173.1_Missense_Mutation_p.A1053T|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1054T|DOCK9_ENST00000448493.2_Missense_Mutation_p.A1065T NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1054 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.A1053T(1)|p.A1065T(1)|p.A1054T(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCCAGGAGCAAAACAGCTA 0.403000 6 21 0 0 0.047766 0 0 ZNF516 9658 broad.mit.edu 37 18 74153297 74153297 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:74153297C>T ENST00000443185.2 - 3 2031 c.1714G>A c.(1714-1716)Ggc>Agc p.G572S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G572S(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CAGGCGGAGCCAGGGCTGCTG 0.736000 6 15 0 0 0.029380 0 0 MRPL35 51318 broad.mit.edu 37 2 86434448 86434448 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:86434448A>C ENST00000337109.4 + 3 410 c.376A>C c.(376-378)Aag>Cag p.K126Q MRPL35_ENST00000254644.8_Missense_Mutation_p.K126Q|MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000409180.1_Missense_Mutation_p.K126Q NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 126 translation mitochondrial ribosome structural constituent of ribosome p.K126Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 GGTGAGGAGAAAGGTGAGTCT 0.468000 20 56 0 0 0.069288 0 0 KMT2C 58508 broad.mit.edu 37 7 151945220 151945220 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:151945220C>G ENST00000355193.2 - 14 2517 c.2299G>C c.(2299-2301)Gag>Cag p.E767Q KMT2C_ENST00000262189.6_Missense_Mutation_p.E767Q lysine (K)-specific methyltransferase 2C p.E767Q(2) AATGATGACTCTGTCTCAGAT 0.413000 5 205 0 0 0.021553 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842207 8842207 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:8842207G>A ENST00000324060.2 + 1 892 c.817G>A c.(817-819)Gtg>Atg p.V273M NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V273M(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCAGGATAACGTGGTTTCCCT 0.537000 27 160 0 0 0.108266 0 0 NCF2 4688 broad.mit.edu 37 1 183532680 183532680 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:183532680A>T ENST00000413720.1 - 11 1206 c.932T>A c.(931-933)gTg>gAg p.V311E NCF2_ENST00000469280.1_5'UTR|NCF2_ENST00000418089.1_Missense_Mutation_p.V275E|NCF2_ENST00000367536.1_Missense_Mutation_p.V356E|NCF2_ENST00000367535.3_Missense_Mutation_p.V356E NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 356 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding p.V356E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 CTTGTAGTGCACCTTGAGTGT 0.547000 45 384 0 0 0.045515 0 0 BRWD1 54014 broad.mit.edu 37 21 40568278 40568278 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:40568278C>T ENST00000342449.3 - 41 6795 c.6717G>A c.(6715-6717)acG>acA p.T2239T BRWD1_ENST00000380800.3_Intron|BRWD1_ENST00000333229.2_Intron NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.T2239T(1) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCTGATTTCTCGTTTTTATTT 0.393000 67 483 0 0 0.048971 0 0 RARA 5914 broad.mit.edu 37 17 38510626 38510626 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:38510626C>T ENST00000254066.5 + 7 1335 c.880C>T c.(880-882)Cgg>Tgg p.R294W RARA_ENST00000394086.3_Missense_Mutation_p.R310W|RARA_ENST00000394081.3_Missense_Mutation_p.R289W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R294W|RARA_ENST00000425707.3_Missense_Mutation_p.R197W NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 294 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.R294W(1) breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GACCCTGAACCGGACCCAGAT 0.642000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 21 93 0 0 0.076483 0 0 MTTP 4547 broad.mit.edu 37 4 100532321 100532321 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:100532321G>C ENST00000457717.1 + 14 2047 c.1791G>C c.(1789-1791)ctG>ctC p.L597L MTTP_ENST00000511045.1_Silent_p.L624L|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.L597L NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 597 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.L597L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GTCGAGTTCTGAAGGAAATGG 0.393000 22 86 0 0 0.091800 0 0 AHNAK 79026 broad.mit.edu 37 11 62288867 62288867 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:62288867G>A ENST00000378024.4 - 5 13296 c.13022C>T c.(13021-13023)cCt>cTt p.P4341L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4341 nervous system development nucleus protein binding p.P4341L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTCAGCCTTAGGAAGGGTAAC 0.502000 10 388 0 0 0.069234 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50684226 50684226 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:50684226C>A ENST00000446044.1 + 11 1481 c.885C>A c.(883-885)atC>atA p.I295I MAPKAPK3_ENST00000357955.2_Silent_p.I295I NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 295 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.I295I(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGCTGACCATCACTCAGTTCA 0.622000 14 70 1.5739e-10 1.72031e-10 0.028581 1 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 137 0 0 0.009096 0 0 FAM193A 8603 broad.mit.edu 37 4 2692602 2692602 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:2692602C>T ENST00000324666.5 + 13 2186 c.1835C>T c.(1834-1836)aCg>aTg p.T612M FAM193A_ENST00000502458.1_Missense_Mutation_p.T634M|FAM193A_ENST00000545951.1_Missense_Mutation_p.T612M|FAM193A_ENST00000505311.1_Missense_Mutation_p.T612M|FAM193A_ENST00000382839.3_Missense_Mutation_p.T612M NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 612 p.T612M(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GTCATGGCCACGTCATCAGCC 0.448000 15 92 0 0 0.033300 0 0 KLHL1 57626 broad.mit.edu 37 13 70314531 70314531 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:70314531A>G ENST00000377844.4 - 8 2556 c.1797T>C c.(1795-1797)aaT>aaC p.N599N KLHL1_ENST00000545028.1_Silent_p.N406N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 599 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.N599N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTACTTGCCATTCAATGCTG 0.318000 10 27 0 0 0.069234 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003748 75003748 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:75003748A>G ENST00000373359.2 - 1 1331 c.1139T>C c.(1138-1140)cTt>cCt p.L380P NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 380 MAGE 2. p.L380P(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTGCTGGACAAGGAGGTAGAT 0.443000 38 82 0 0 0.074837 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900454 28900454 + RNA SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:28900454G>A ENST00000528584.1 + 0 50 NR_036443.1 CAGTCCTTCCGTCATGGGACA 0.438000 3 35 0 0 0.004672 0 0 TMEM163 81615 broad.mit.edu 37 2 135308215 135308215 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:135308215G>A ENST00000281924.6 - 4 448 c.384C>T c.(382-384)gaC>gaT p.D128D NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 128 integral to membrane p.D128D(1) endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGACAGGACGTCCAGGATGG 0.502000 11 76 0 0 0.080935 0 0 ELOVL7 79993 broad.mit.edu 37 5 60083198 60083198 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:60083198C>T ENST00000508821.1 - 3 341 c.27G>A c.(25-27)agG>agA p.R9R ELOVL7_ENST00000438340.1_Silent_p.R9R|ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000425382.1_Silent_p.R9R NM_024930.2 NP_079206.2 A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 9 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.R9R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GATGCACAGTCCTCGATGTAA 0.338000 11 59 0 0 0.105934 0 0 DLST 1743 broad.mit.edu 37 14 75369021 75369021 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:75369021C>G ENST00000334220.4 + 15 1411 c.1350C>G c.(1348-1350)ctC>ctG p.L450L DLST_ENST00000334212.6_Silent_p.L364L NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 450 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity p.L450L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) GAGTCCTCCTCCTGGATCTTT 0.547000 9 43 0 0 0.069234 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959762 16959762 + RNA SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:16959762C>T ENST00000412962.1 - 0 74 p.R35Q(1) TGGCTCGACCCGGCTCTCTGC 0.662000 3 5 0 0 0.004672 0 0 YAE1D1 57002 broad.mit.edu 37 7 39612174 39612174 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:39612174G>C ENST00000223273.2 + 3 593 c.550G>C c.(550-552)Gaa>Caa p.E184Q YAE1D1_ENST00000432096.2_Intron NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 184 p.E184Q(1) TTCATATGTAGAATGTTGTAG 0.393000 20 92 0 0 0.049695 0 0 SERPINB13 5275 broad.mit.edu 37 18 61255985 61255985 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:61255985C>G ENST00000344731.5 + 2 186 c.84C>G c.(82-84)ttC>ttG p.F28L SERPINB13_ENST00000269489.5_Missense_Mutation_p.F28L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 28 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.F28L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCAACATCTTCTTTTCCCCTG 0.532000 19 53 0 0 0.043863 0 0 LILRA2 11027 broad.mit.edu 37 19 55085807 55085807 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:55085807C>T ENST00000251377.3 + 4 243 c.110C>T c.(109-111)tCt>tTt p.S37F LILRA2_ENST00000391738.3_Missense_Mutation_p.S37F|LILRA2_ENST00000495786.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S37F|LILRA2_ENST00000391737.1_Missense_Mutation_p.S25F|LILRB1_ENST00000448689.1_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S37F(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCAGGCTCTGTGATCATC 0.542000 99 157 0 0 0.048971 0 0 HIST3H2BB 128312 broad.mit.edu 37 1 228645991 228645991 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:228645991G>A ENST00000369160.2 + 1 184 c.161G>A c.(160-162)gGc>gAc p.G54D NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) skin(1) 1 Prostate(94;0.183) CCCGACACCGGCATCTCGTCC 0.587000 4 223 0 0 0.009096 0 0 FLRT2 23768 broad.mit.edu 37 14 86088847 86088847 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:86088847C>T ENST00000330753.4 + 2 1756 c.989C>T c.(988-990)tCa>tTa p.S330L FLRT2_ENST00000554746.1_Missense_Mutation_p.S330L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 330 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.S330L(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TATATCCCTTCATCTCTCAAC 0.478000 94 241 0 0 0.048971 0 0 PAK3 5063 broad.mit.edu 37 X 110463610 110463610 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:110463610C>A ENST00000372007.5 + 18 1961 c.1570C>A c.(1570-1572)Cct>Act p.P524T PAK3_ENST00000446737.1_Missense_Mutation_p.P524T|PAK3_ENST00000262836.4_Missense_Mutation_p.P539T|PAK3_ENST00000360648.4_Missense_Mutation_p.P560T|PAK3_ENST00000519681.1_Missense_Mutation_p.P545T|PAK3_ENST00000417227.1_Missense_Mutation_p.P545T|PAK3_ENST00000372010.1_Missense_Mutation_p.P539T|PAK3_ENST00000425146.1_Missense_Mutation_p.P524T|PAK3_ENST00000518291.1_Missense_Mutation_p.P560T NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.P560T(1)|p.P524T(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATTAGCCAAGCCTCTCTCCAG 0.418000 TSP Lung(19;0.15) 9 16 0.000274275 0.000284882 0.047766 1 0 CUBN 8029 broad.mit.edu 37 10 17142151 17142151 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:17142151A>G ENST00000377833.4 - 14 1683 c.1618T>C c.(1618-1620)Tct>Cct p.S540P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 540 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.S540P(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGCAGAAGAGGAATCTCCA 0.408000 17 104 0 0 0.028581 0 0 GRM8 2918 broad.mit.edu 37 7 126544099 126544099 + Silent SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:126544099T>A ENST00000339582.2 - 5 1753 c.945A>T c.(943-945)atA>atT p.I315I GRM8_ENST00000405249.1_Silent_p.I315I|GRM8_ENST00000358373.3_Silent_p.I315I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I315I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 315 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.I315I(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGACAGGTGCTATTTTGGATC 0.403000 HNSCC(24;0.065) 35 121 0 0 0.059317 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867809 7867809 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:7867809C>T ENST00000264669.5 - 2 524 c.388G>A c.(388-390)Gca>Aca p.A130T MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 130 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.A130T(1) 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 GCTCCTGCTGCCATAGTGTCA 0.418000 14 61 0 0 0.020292 0 0 AFM 173 broad.mit.edu 37 4 74363404 74363404 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:74363404C>G ENST00000226355.3 + 10 1320 c.1227C>G c.(1225-1227)ctC>ctG p.L409L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 409 Albumin 3. vitamin transport vitamin E binding p.L409L(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAAAAGCCTCAAGATGGTAC 0.338000 13 29 0 0 0.024245 0 0 RALGPS2 55103 broad.mit.edu 37 1 178753646 178753646 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:178753646G>C ENST00000367635.3 + 3 489 c.151G>C c.(151-153)Gaa>Caa p.E51Q RALGPS2_ENST00000367634.2_Missense_Mutation_p.E51Q NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 51 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding p.E51Q(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GGTTACACCAGAAGAATATGC 0.393000 17 77 0 0 0.033300 0 0 NXPH2 11249 broad.mit.edu 37 2 139428760 139428760 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:139428760G>A ENST00000272641.3 - 2 633 c.527C>T c.(526-528)aCc>aTc p.T176I NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 176 IV (linker domain). neuropeptide signaling pathway extracellular region p.T176>?(1)|p.T176I(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GGTCTCCAAGGTAGACTGGGG 0.468000 9 39 0 0 0.058154 0 0 CDH22 64405 broad.mit.edu 37 20 44856245 44856245 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:44856245A>T ENST00000372262.3 - 3 972 c.572T>A c.(571-573)aTg>aAg p.M191K CDH22_ENST00000537909.1_Missense_Mutation_p.M191K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 191 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M191K(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ATCCGAGGCCATCACCTGCAT 0.682000 12 5 0 0 0.043863 0 0 TCF4 6925 broad.mit.edu 37 18 52946899 52946899 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:52946899G>C ENST00000564403.2 - 9 1082 c.556C>G c.(556-558)Ctt>Gtt p.L186V TCF4_ENST00000563760.1_Intron|TCF4_ENST00000543082.1_Intron|TCF4_ENST00000567880.1_Intron|TCF4_ENST00000537856.3_Intron|TCF4_ENST00000544241.2_Intron|TCF4_ENST00000564999.1_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000564228.1_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000570287.2_Intron|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000561831.3_Intron|TCF4_ENST00000561992.1_Intron|TCF4_ENST00000457482.3_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000356073.4_Intron|TCF4_ENST00000570177.2_Intron NM_001243228.1 NP_001230157.1 P15884 ITF2_HUMAN transcription factor 4 183 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGAGGAGAAAGAACCAACTGA 0.473000 10 47 0 0 0.069234 0 0 CDH2 1000 broad.mit.edu 37 18 25593677 25593677 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:25593677C>T ENST00000269141.3 - 3 792 c.369G>A c.(367-369)ctG>ctA p.L123L CDH2_ENST00000399380.3_Silent_p.L92L NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 123 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.L123L(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGTTGGCTTCAGGCTCAATT 0.418000 51 205 0 0 0.048971 0 0 OR4C6 219432 broad.mit.edu 37 11 55433539 55433539 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:55433539C>T ENST00000314259.3 + 1 926 c.897C>T c.(895-897)ctC>ctT p.L299L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L299L(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGAAGAAACTCTGGATGAAAT 0.423000 29 55 0 0 0.037714 0 0 SLC7A3 84889 broad.mit.edu 37 X 70149567 70149567 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:70149567G>C ENST00000374299.3 - 2 425 c.281C>G c.(280-282)tCt>tGt p.S94C SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94C Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 94 cellular nitrogen compound metabolic process integral to membrane|plasma membrane p.S94C(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGCCGAACCAGAACGGGGAAC 0.542000 10 16 0 0 0.080935 0 0 RYR3 6263 broad.mit.edu 37 15 33872188 33872188 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:33872188G>C ENST00000389232.4 + 13 1350 c.1280G>C c.(1279-1281)cGc>cCc p.R427P RYR3_ENST00000415757.3_Missense_Mutation_p.R427P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 427 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R427P(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAACAATCGCACAGCTGCC 0.562000 7 28 0 0 0.029380 0 0 EP400NL 347918 broad.mit.edu 37 12 132589770 132589770 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:132589770C>T ENST00000376625.4 + 1 1231 c.1205C>T c.(1204-1206)cCa>cTa p.P402L EP400NL_ENST00000443539.2_Missense_Mutation_p.P270L|EP400NL_ENST00000389560.2_Missense_Mutation_p.P333L|EP400NL_ENST00000392352.1_Missense_Mutation_p.P270L|EP400NL_ENST00000361109.5_Missense_Mutation_p.P249L EP400 N-terminal like p.P402L(2) endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 CTGTATGGACCATTACAAGCA 0.378000 44 27 0 0 0.039052 0 0 SLC25A22 79751 broad.mit.edu 37 11 792032 792032 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:792032C>T ENST00000320230.5 - 10 1336 c.855G>A c.(853-855)ctG>ctA p.L285L SLC25A22_ENST00000531214.1_Silent_p.L285L NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 285 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity p.L285L(1) endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) AGGCGCCCTTCAGGAAGGCCG 0.697000 5 13 0 0 0.029380 0 0 MACF1 23499 broad.mit.edu 37 1 39913530 39913530 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:39913530G>C ENST00000564288.1 + 82 20705 c.19928G>C c.(19927-19929)aGa>aCa p.R6643T MACF1_ENST00000361689.2_Missense_Mutation_p.R4584T|MACF1_ENST00000539005.1_Missense_Mutation_p.R4454T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6542T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584T|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6652 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.R4584T(1)|p.R5086T(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTATTGAAAGAGGGCGATCA 0.448000 15 46 0 0 0.024245 0 0 TTN 7273 broad.mit.edu 37 2 179411904 179411904 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:179411904G>A ENST00000589042.1 - 340 94572 c.94348C>T c.(94348-94350)Cgt>Tgt p.R31450C TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29809 Fibronectin type-III 129. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGTATTACGTTCTTTCTTC 0.423000 56 215 0 0 0.048971 0 0 DCHS1 8642 broad.mit.edu 37 11 6662141 6662141 + Missense_Mutation SNP C C T rs143767864 byFrequency TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:6662141C>T ENST00000299441.3 - 2 1115 c.704G>A c.(703-705)cGg>cAg p.R235Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587000 45 110 0 0 0.048971 0 0 POPDC3 64208 broad.mit.edu 37 6 105609536 105609536 + Silent SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:105609536T>C ENST00000254765.3 - 2 527 c.249A>G c.(247-249)gtA>gtG p.V83V POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 83 integral to membrane p.V83V(1) NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TGACAAACAGTACAAAATTCC 0.433000 90 100 0 0 0.048971 0 0 BAGE2 85319 broad.mit.edu 37 21 11038962 11038962 + RNA SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:11038962C>G ENST00000470054.1 - 0 1241 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) AATGATGACTCTGTCTCAGAT 0.413000 18 797 0 0 0.043863 0 0 RNASEL 6041 broad.mit.edu 37 1 182555244 182555244 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:182555244T>C ENST00000367559.3 - 2 951 c.698A>G c.(697-699)aAt>aGt p.N233S RNASEL_ENST00000539397.1_Missense_Mutation_p.N233S|RNASEL_ENST00000444138.1_Missense_Mutation_p.N233S NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 233 2-5A binding (P-loop) 1. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding p.N233S(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TCCCCTCACATTGACATCAGC 0.517000 36 136 0 0 0.059317 0 0 HOXB4 3214 broad.mit.edu 37 17 46654110 46654110 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:46654110G>A ENST00000332503.5 - 2 2521 c.730C>T c.(730-732)Ccc>Tcc p.P244S HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 244 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P244S(1) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 CCTCCATTGGGCCGGCCAGGG 0.697000 11 50 0 0 0.080935 0 0 MYH7 4625 broad.mit.edu 37 14 23896042 23896042 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:23896042C>T ENST00000355349.3 - 18 2150 c.1988G>A c.(1987-1989)cGc>cAc p.R663H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 663 Actin-binding.|Myosin head-like. R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R663H(2) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGGGTGGAGCGCAAGTTGGT 0.478000 18 46 0 0 0.049695 0 0 STAG2 10735 broad.mit.edu 37 X 123200039 123200039 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:123200039C>T ENST00000371160.1 + 22 2401 c.2111C>T c.(2110-2112)tCa>tTa p.S704L STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S704L|STAG2_ENST00000371157.3_Missense_Mutation_p.S704L|STAG2_ENST00000371144.3_Missense_Mutation_p.S704L|STAG2_ENST00000371145.3_Missense_Mutation_p.S704L|STAG2_ENST00000354548.5_Missense_Mutation_p.S635L NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 704 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.S704L(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CATGACCTTTCAAAGTGGGAT 0.289000 19 51 0 0 0.049695 0 0 LEPRE1 64175 broad.mit.edu 37 1 43215938 43215938 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:43215938G>A ENST00000236040.4 - 11 1679 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C LEPRE1_ENST00000397054.3_Missense_Mutation_p.R547C|LEPRE1_ENST00000296388.5_Missense_Mutation_p.R547C NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 547 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity p.R547C(2) large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCATGATGCGCCGCACCTTC 0.582000 8 28 0 0 0.038147 0 0 CPD 1362 broad.mit.edu 37 17 28778804 28778804 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:28778804T>A ENST00000225719.4 + 14 3221 c.3145T>A c.(3145-3147)Tgt>Agt p.C1049S CPD_ENST00000584051.1_3'UTR|CPD_ENST00000543464.2_Missense_Mutation_p.C802S NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1049 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.C1049S(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGAGAAAGACTGTACTTCAAA 0.388000 14 91 0 0 0.105934 0 0 ARMC10 83787 broad.mit.edu 37 7 102727178 102727178 + Silent SNP G G C rs150220068 byFrequency TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:102727178G>C ENST00000323716.3 + 4 887 c.495G>C c.(493-495)ctG>ctC p.L165L ARMC10_ENST00000541300.1_Silent_p.L130L|ARMC10_ENST00000428183.2_Silent_p.L165L|ARMC10_ENST00000441711.2_Silent_p.L130L|ARMC10_ENST00000425331.1_Silent_p.L130L|ARMC10_ENST00000454559.1_Silent_p.L130L NM_031905.4 NP_114111.2 Q8N2F6 ARM10_HUMAN armadillo repeat containing 10 165 regulation of growth endoplasmic reticulum membrane|integral to membrane binding p.L165L(2) NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 11 TAAATAACCTGAGTGTGAATG 0.289000 4 98 0 0 0.014758 0 0 FERD3L 222894 broad.mit.edu 37 7 19184975 19184975 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:19184975T>C ENST00000275461.3 - 1 69 c.11A>G c.(10-12)tAt>tGt p.Y4C AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 4 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Y4C(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 GCTCTCCGGATAGGCCGCCAT 0.642000 11 60 0 0 0.093190 0 0 CBLB 868 broad.mit.edu 37 3 105378062 105378062 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:105378062C>T ENST00000264122.4 - 19 3022 c.2701G>A c.(2701-2703)Gca>Aca p.A901T CBLB_ENST00000407712.1_Missense_Mutation_p.A116T|CBLB_ENST00000394027.3_Missense_Mutation_p.A879T NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 901 Interaction with SH3KBP1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding p.A901T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTGGCTGGTGCCTGTGAACCA 0.443000 Mis S AML 4 74 0 0 0.014758 0 0 ZIM3 114026 broad.mit.edu 37 19 57647056 57647056 + Missense_Mutation SNP G G C rs150862431 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:57647056G>C ENST00000269834.1 - 5 1034 c.649C>G c.(649-651)Cac>Gac p.H217D NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H217D(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCTCTGCGTGAGTTTTCTGA 0.428000 40 209 0 0 0.092188 0 0 ZNF831 128611 broad.mit.edu 37 20 57767955 57767955 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:57767955G>T ENST00000371030.2 + 1 1881 c.1881G>T c.(1879-1881)acG>acT p.T627T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 627 intracellular nucleic acid binding|zinc ion binding p.T627T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGATGAGACGTTCAAAAGGA 0.592000 11 85 2.68362e-12 3.0031e-12 0.093190 1 0 ZNF714 148206 broad.mit.edu 37 19 21281118 21281118 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:21281118G>A ENST00000596143.1 + 3 368 c.e3+1 ZNF714_ENST00000596053.1_Splice_Site|ZNF714_ENST00000291770.7_Splice_Site|ZNF714_ENST00000601416.1_Splice_Site NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(2) endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 GTCTTCTTGGGTGAGAATAAC 0.328000 22 65 0 0 0.069288 0 0 CARM1 10498 broad.mit.edu 37 19 11032381 11032381 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:11032381C>A ENST00000327064.4 + 16 1965 c.1775C>A c.(1774-1776)tCc>tAc p.S592Y CARM1_ENST00000344150.4_Missense_Mutation_p.S569Y NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 592 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.S592Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CCCGCCATCTCCATGGCGTCG 0.652000 34 156 5.66738e-07 5.95233e-07 0.086207 1 0 CXXC4 80319 broad.mit.edu 37 4 105411974 105411974 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:105411974C>T ENST00000394767.2 - 2 1436 c.986G>A c.(985-987)cGc>cAc p.R329H CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.R160H NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 160 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.R160H(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TCCCGTTTTGCGGTTCCTGCA 0.507000 4 155 0 0 0.014758 0 0 SLC38A2 54407 broad.mit.edu 37 12 46764360 46764360 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:46764360C>G ENST00000256689.5 - 4 693 c.249G>C c.(247-249)gcG>gcC p.A83A SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 83 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.A83A(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TGCCCACAATCGCATTGCTCA 0.393000 24 105 0 0 0.099896 0 0 ZNF668 79759 broad.mit.edu 37 16 31075213 31075213 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:31075213G>A ENST00000538906.1 - 2 1352 c.568C>T c.(568-570)Cac>Tac p.H190Y ZNF668_ENST00000426488.2_Missense_Mutation_p.H213Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H190Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.H190Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H213Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H190Y NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H190Y(1)|p.H213Y(1) breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AGGCCAGCGTGAGTACGCCGG 0.657000 9 14 0 0 0.047766 0 0 OR10T2 128360 broad.mit.edu 37 1 158368889 158368889 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:158368889C>A ENST00000334438.1 - 1 367 c.368G>T c.(367-369)cGc>cTc p.R123L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R123L(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TGCTACATAGCGATCATATCC 0.473000 28 445 1.88708e-17 2.15013e-17 0.037714 1 0 SIRPB2 284759 broad.mit.edu 37 20 1459226 1459226 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:1459226A>C ENST00000359801.3 - 3 514 c.478T>G c.(478-480)Tgg>Ggg p.W160G SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_Missense_Mutation_p.W22G|SIRPB2_ENST00000444444.2_Missense_Mutation_p.W62G NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 160 Ig-like V-type 2. integral to membrane p.W160G(1)|p.W259G(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGATGATCCACAGGTCTGGT 0.547000 10 76 0 0 0.069234 0 0 SCN3A 6328 broad.mit.edu 37 2 166003482 166003482 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:166003482C>G ENST00000360093.3 - 12 1929 c.1438G>C c.(1438-1440)Gag>Cag p.E480Q SCN3A_ENST00000409101.3_Missense_Mutation_p.E480Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E480Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 480 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E480Q(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCCAACAGCTCTCCTAACCCA 0.443000 33 85 0 0 0.059317 0 0 CENPE 1062 broad.mit.edu 37 4 104080302 104080302 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:104080302G>C ENST00000265148.3 - 22 2555 c.2466C>G c.(2464-2466)ttC>ttG p.F822L CENPE_ENST00000380026.3_Missense_Mutation_p.F797L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 822 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 p.F822L(1) 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) GAAGGGTTTTGAAATTTTGGA 0.348000 11 71 0 0 0.069234 0 0 HMCN1 83872 broad.mit.edu 37 1 186092199 186092199 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:186092199G>A ENST00000271588.4 + 81 12575 c.12346G>A c.(12346-12348)Ggg>Agg p.G4116R HMCN1_ENST00000367492.2_Missense_Mutation_p.G4116R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4116 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding p.G4116R(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCATAAAGATGGGCGTGCAAT 0.512000 27 166 0 0 0.059317 0 0 UPB1 51733 broad.mit.edu 37 22 24909450 24909450 + Missense_Mutation SNP C C A rs138608016 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:24909450C>A ENST00000413389.2 + 5 2007 c.414C>A c.(412-414)aaC>aaA p.N138K UPB1_ENST00000326010.5_Missense_Mutation_p.N206K Q9UBR1 BUP1_HUMAN ureidopropionase, beta 206 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding p.N206N(1)|p.N206K(1) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GTGATTTCAACGAGGTGAGCC 0.512000 76 49 5.21738e-30 6.01759e-30 0.048971 1 0 F8 2157 broad.mit.edu 37 X 154124398 154124398 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:154124398C>G ENST00000360256.4 - 22 6583 c.6383G>C c.(6382-6384)gGg>gCg p.G2128A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2128 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.G2128A(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCACTTCTTCCCATCAAGACT 0.413000 62 92 0 0 0.048971 0 0 PPFIA1 8500 broad.mit.edu 37 11 70172733 70172733 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:70172733G>C ENST00000253925.7 + 7 954 c.739G>C c.(739-741)Gaa>Caa p.E247Q PPFIA1_ENST00000389547.3_Missense_Mutation_p.E247Q|AP000487.6_ENST00000528607.1_RNA|CTA-797E19.2_ENST00000526017.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 247 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.E247Q(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGCCACGAGGAAGACCTTGC 0.398000 291 384 0 0 0.048971 0 0 TIAM1 7074 broad.mit.edu 37 21 32575277 32575277 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:32575277C>T ENST00000286827.3 - 13 2911 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K TIAM1_ENST00000541036.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 814 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.E814K(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATTTTGTTTTCTATTAGAAAT 0.378000 26 207 0 0 0.030593 0 0 NXPH2 11249 broad.mit.edu 37 2 139428761 139428761 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:139428761T>A ENST00000272641.3 - 2 632 c.526A>T c.(526-528)Acc>Tcc p.T176S NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 176 IV (linker domain). neuropeptide signaling pathway extracellular region p.T176S(1)|p.T176>?(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GTCTCCAAGGTAGACTGGGGG 0.468000 10 38 0 0 0.069234 0 0 POLR3E 55718 broad.mit.edu 37 16 22337220 22337220 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:22337220G>A ENST00000299853.5 + 18 1654 c.1487G>A c.(1486-1488)cGg>cAg p.R496Q POLR3E_ENST00000564209.1_Missense_Mutation_p.R496Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R460Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R496Q NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 496 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity p.R496Q(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CCCGGTGTGCGGATCAAGGAG 0.692000 9 22 0 0 0.047766 0 0 ALDOB 229 broad.mit.edu 37 9 104192127 104192127 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr9:104192127G>A ENST00000374855.4 - 3 358 c.234C>T c.(232-234)atC>atT p.I78I ALDOB_ENST00000468981.3_5'UTR NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 78 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.I78I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CGTGGAAAAGGATCACACCCC 0.517000 151 95 0 0 0.048971 0 0 ANO4 121601 broad.mit.edu 37 12 101510560 101510560 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:101510560C>A ENST00000392979.3 + 24 2810 c.2449C>A c.(2449-2451)Cct>Act p.P817T ANO4_ENST00000550015.1_Missense_Mutation_p.P372T|ANO4_ENST00000392977.3_Missense_Mutation_p.P852T|ANO4_ENST00000299222.9_Missense_Mutation_p.P372T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 852 chloride channel complex chloride channel activity p.P817T(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTCGGGGACTCCTCTTAAGTA 0.542000 HNSCC(74;0.22) 23 144 3.62473e-10 3.93902e-10 0.062417 1 0 LRGUK 136332 broad.mit.edu 37 7 133812300 133812300 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:133812300C>A ENST00000285928.2 + 1 249 c.180C>A c.(178-180)taC>taA p.Y60* LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 60 ATP binding|kinase activity p.Y60*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CCTCCTCCTACCTGCTCCAGC 0.597000 26 154 1.17739e-12 1.32545e-12 0.108266 1 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785606 22785606 + RNA SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:22785606C>G ENST00000600260.1 + 0 1613 NR_033899.1 ACACTGCCCTCTCTCAGCCAG 0.667000 8 22 0 0 0.047766 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:90161902A>G ENST00000564451.1 + 0 1255 TUBB8P7_ENST00000567960.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 3 60 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 31 17 0 0 0.050027 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528318 6528318 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:6528318G>A ENST00000377748.1 - 21 3306 c.2809C>T c.(2809-2811)Cgc>Tgc p.R937C PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R897C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R916C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R860C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R929C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R939C NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 916 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.R937C(1) liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGGTGCGGCGGCGGAGACGG 0.677000 5 10 0 0 0.021553 0 0 TCF4 6925 broad.mit.edu 37 18 52946874 52946874 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:52946874G>C ENST00000354452.3 - 9 1174 c.563C>G c.(562-564)tCa>tGa p.S188* TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S146*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S58*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S117*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S188*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S117*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S290*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S163*|TCF4_ENST00000570287.2_Nonsense_Mutation_p.S28*|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S188*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S58*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S194*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S186*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.S188*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S58* NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 188 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding p.S188*(1)|p.S290*(1) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGTGCTTGCTGATGGAGCATA 0.478000 9 60 0 0 0.069234 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419822 105419822 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr14:105419822G>A ENST00000333244.5 - 7 2085 c.1966C>T c.(1966-1968)Cgc>Tgc p.R656C AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 656 nucleus p.R656C(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTTTTAAGCGTTTTTCATCG 0.403000 74 350 0 0 0.048971 0 0 TMX3 54495 broad.mit.edu 37 18 66381117 66381117 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:66381117C>T ENST00000299608.2 - 2 383 c.67G>A c.(67-69)Gtc>Atc p.V23I TMX3_ENST00000443099.2_Missense_Mutation_p.V23I|TMX3_ENST00000562706.1_Missense_Mutation_p.V23I NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 23 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.V23I(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 CCTTTACAGACGACCATATCA 0.294000 4 15 0 0 0.009096 0 0 LOC645752 645752 broad.mit.edu 37 15 78211648 78211648 + RNA SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:78211648A>G ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CGCCAGGGATAGGGGCTCAGC 0.522000 3 78 0 0 0.014758 0 0 SFRP4 6424 broad.mit.edu 37 7 37955842 37955842 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:37955842C>A ENST00000436072.2 - 1 675 c.298G>T c.(298-300)Gtg>Ttg p.V100L EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 100 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.V100L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CGTTGGCACACCGACTTGCAC 0.627000 17 60 5.03518e-11 5.56832e-11 0.043863 1 0 PDE1C 5137 broad.mit.edu 37 7 31862705 31862705 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:31862705T>C ENST00000396184.3 - 15 1768 c.1564A>G c.(1564-1566)Agg>Ggg p.R522G PDE1C_ENST00000396182.2_Missense_Mutation_p.R522G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R582G|PDE1C_ENST00000396191.1_Missense_Mutation_p.R522G|PDE1C_ENST00000321453.7_Missense_Mutation_p.R522G NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 522 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.R522G(2)|p.R582G(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ACCTTGGCCCTCCATCTCTCC 0.458000 35 170 0 0 0.074837 0 0 TRIM36 55521 broad.mit.edu 37 5 114469698 114469698 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:114469698C>G ENST00000513154.1 - 8 1683 c.1357G>C c.(1357-1359)Gag>Cag p.E453Q TRIM36_ENST00000282369.3_Missense_Mutation_p.E465Q|TRIM36_ENST00000514154.1_Missense_Mutation_p.E310Q Q9NQ86 TRI36_HUMAN tripartite motif containing 36 465 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.E465Q(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACTTCTATCTCATTCCATGAC 0.363000 14 62 0 0 0.020292 0 0 T 6862 broad.mit.edu 37 6 166571980 166571980 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr6:166571980C>A ENST00000296946.2 - 9 1599 c.1131G>T c.(1129-1131)cgG>cgT p.R377R T_ENST00000366871.3_Silent_p.R319R NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 377 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity p.R377R(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGGGGGAGCCCCGGAAGAACT 0.706000 Chordoma, Familial Clustering of 16 51 3.32936e-07 3.5164e-07 0.038395 1 0 C20orf96 140680 broad.mit.edu 37 20 256641 256641 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:256641G>C ENST00000360321.2 - 10 1137 c.999C>G c.(997-999)gtC>gtG p.V333V C20orf96_ENST00000382369.5_Silent_p.V298V NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 333 p.V333V(1) endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCTCAAATATGACCTCTCGGG 0.512000 18 80 0 0 0.038395 0 0 ZNF341 84905 broad.mit.edu 37 20 32336848 32336848 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr20:32336848G>A ENST00000375200.1 + 4 824 c.459G>A c.(457-459)caG>caA p.Q153Q ZNF341_ENST00000342427.2_Silent_p.Q153Q NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 153 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q153Q(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCCTGGACCAGCCCATGCCCC 0.572000 4 153 0 0 0.009096 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569457 76569457 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:76569457G>A ENST00000307431.8 + 19 3153 c.2768G>A c.(2767-2769)aGa>aAa p.R923K CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R927K|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R851K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R875K|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 924 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.R923K(1)|p.R851K(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACGGCCACCAGACAGAGAGGC 0.483000 18 77 0 0 0.043863 0 0 ANO6 196527 broad.mit.edu 37 12 45810576 45810576 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:45810576C>T ENST00000320560.8 + 17 2308 c.2106C>T c.(2104-2106)gaC>gaT p.D702D ANO6_ENST00000423947.3_Silent_p.D723D|ANO6_ENST00000425752.2_Silent_p.D702D|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000441606.2_Silent_p.D684D|ANO6_ENST00000435642.1_Silent_p.D702D NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 702 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.D702D(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TAAGAGTGGACGCATGGAAAC 0.483000 14 61 0 0 0.020292 0 0 AHNAK 79026 broad.mit.edu 37 11 62296133 62296133 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:62296133G>A ENST00000378024.4 - 5 6030 c.5756C>T c.(5755-5757)gCc>gTc p.A1919V AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1919 nervous system development nucleus protein binding p.A1919V(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GATCTTGGGGGCCTTGAAGTG 0.507000 9 663 0 0 0.058154 0 0 BCAS3 54828 broad.mit.edu 37 17 58952079 58952079 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:58952079C>T ENST00000589222.1 + 9 709 c.641C>T c.(640-642)aCg>aTg p.T214M BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 214 nucleus p.T214M(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTACTTTCACGAAGAAATTC 0.328000 10 51 0 0 0.080935 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011001 23011001 + RNA SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr22:23011001G>T ENST00000390304.2 + 0 102 GGCCTCCTATGAGCTGACACA 0.557000 77 260 1.00246e-47 1.16335e-47 0.048971 1 0 DNM1 1759 broad.mit.edu 37 9 130984829 130984829 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr9:130984829G>A ENST00000341179.7 + 8 1174 c.1082G>A c.(1081-1083)cGc>cAc p.R361H DNM1_ENST00000475805.1_Missense_Mutation_p.R361H|DNM1_ENST00000372923.3_Missense_Mutation_p.R361H|DNM1_ENST00000486160.1_Missense_Mutation_p.R361H|DNM1_ENST00000393594.3_Missense_Mutation_p.R361H NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 361 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.R361H(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GGGGGAGCCCGCATTAACCGA 0.592000 4 162 0 0 0.014758 0 0 NLRP2 55655 broad.mit.edu 37 19 55493697 55493697 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:55493697C>T ENST00000543010.1 + 6 774 c.631C>T c.(631-633)Ctg>Ttg p.L211L NLRP2_ENST00000427260.2_Silent_p.L188L|NLRP2_ENST00000448584.2_Silent_p.L211L|NLRP2_ENST00000538819.1_Silent_p.L187L|NLRP2_ENST00000339757.7_Silent_p.L189L|NLRP2_ENST00000263437.6_Silent_p.L208L|NLRP2_ENST00000391721.4_Silent_p.L187L|NLRP2_ENST00000537859.1_Silent_p.L189L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 211 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.L211L(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACGGTGGTGCTGTATGGTCC 0.517000 63 125 0 0 0.048971 0 0 TELO2 9894 broad.mit.edu 37 16 1551483 1551483 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:1551483C>T ENST00000262319.6 + 10 1623 c.1344C>T c.(1342-1344)gaC>gaT p.D448D NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 448 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding p.D448D(1) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CTGCGGGTGACGGCGCCTCGG 0.692000 11 5 0 0 0.105934 0 0 SLC38A2 54407 broad.mit.edu 37 12 46765071 46765071 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:46765071C>G ENST00000256689.5 - 2 450 c.6G>C c.(4-6)aaG>aaC p.K2N SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 2 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.K2N(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TTTCGGCCTTCTTCATGCTAA 0.577000 47 136 0 0 0.048971 0 0 AHNAK 79026 broad.mit.edu 37 11 62289475 62289475 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:62289475C>G ENST00000378024.4 - 5 12688 c.12414G>C c.(12412-12414)ctG>ctC p.L4138L AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4138 nervous system development nucleus protein binding p.L4138L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGACCTTTCAGATTCAGGT 0.517000 45 329 0 0 0.045515 0 0 WIF1 11197 broad.mit.edu 37 12 65448985 65448985 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:65448985C>T ENST00000286574.4 - 9 1305 c.931G>A c.(931-933)Gag>Aag p.E311K NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 311 EGF-like 5. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.E311K(2) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CAGCCAGGCTCGCAGACAGCT 0.413000 T HMGA2 pleomorphic salivary gland adenoma 16 89 0 0 0.024245 0 0 GPR98 84059 broad.mit.edu 37 5 89985850 89985850 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:89985850A>T ENST00000405460.2 + 30 6759 c.6663A>T c.(6661-6663)gcA>gcT p.A2221A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2221 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.A2221A(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACAGAGGCAGTCATTATTA 0.378000 4 12 0 0 0.021553 0 0 ZNF813 126017 broad.mit.edu 37 19 53994369 53994369 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:53994369G>T ENST00000396403.4 + 4 1011 c.883G>T c.(883-885)Gga>Tga p.G295* ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G295*(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACTTCATACTGGAGAGAAACC 0.398000 19 119 1.01871e-10 1.11999e-10 0.049695 1 0 BAGE2 85319 broad.mit.edu 37 21 11039272 11039272 + RNA SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:11039272C>T ENST00000470054.1 - 0 931 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) GTTGCTCTTGCTGCACAGTGA 0.398000 26 589 0 0 0.099896 0 0 NPIPB6 728741 broad.mit.edu 37 16 28354353 28354353 + Missense_Mutation SNP T T G rs1794256 by1000genomes TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:28354353T>G ENST00000532254.1 - 7 1538 c.853A>C c.(853-855)Act>Cct p.T285P NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P NM_001282524.1 NP_001269453.1 nuclear pore complex interacting protein family, member B6 p.T285P(4) AGACACTCAGTAGGTGTCTTG 0.507000 3 117 0 0 0.029380 0 0 ATP8B2 57198 broad.mit.edu 37 1 154321468 154321468 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:154321468G>T ENST00000368489.3 + 28 3546 c.3546G>T c.(3544-3546)ctG>ctT p.L1182L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1168 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1182L(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACATGCGGCTGAGCTCTCTCG 0.647000 24 101 2.98393e-07 3.16937e-07 0.076483 1 0 ZNF555 148254 broad.mit.edu 37 19 2852822 2852822 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:2852822G>A ENST00000334241.4 + 4 897 c.759G>A c.(757-759)gaG>gaA p.E253E ZNF555_ENST00000591539.1_Silent_p.E252E|AC006130.3_ENST00000589365.1_RNA NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E253E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) ACACCGGAGAGAAGCCATATA 0.413000 12 64 0 0 0.093190 0 0 EIF2B1 1967 broad.mit.edu 37 12 124109399 124109399 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:124109399C>A ENST00000424014.2 - 7 770 c.562G>T c.(562-564)Gag>Tag p.E188* EIF2B1_ENST00000539951.1_Intron NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 188 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity p.E188*(1) breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TCTGCTTTCTCCATGATGTAG 0.393000 17 74 4.35082e-09 4.70088e-09 0.055883 1 0 ITSN1 6453 broad.mit.edu 37 21 35255954 35255954 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr21:35255954G>A ENST00000381318.3 + 36 4943 c.4655G>A c.(4654-4656)cGa>cAa p.R1552Q ITSN1_ENST00000381285.4_Missense_Mutation_p.R1552Q|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1491Q|ITSN1_ENST00000399367.3_Missense_Mutation_p.R1547Q|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1552 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity p.R1552Q(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TATACTCTCCGAGCAGAAAGC 0.537000 29 199 0 0 0.037714 0 0 DSCAML1 57453 broad.mit.edu 37 11 117321323 117321323 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:117321323G>A ENST00000321322.6 - 20 3831 c.3830C>T c.(3829-3831)cCc>cTc p.P1277L DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1007L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1217 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.P1277L(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCCCGTTGGGCTTGGTAGG 0.582000 16 114 0 0 0.024245 0 0 IMP4 92856 broad.mit.edu 37 2 131103630 131103630 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:131103630G>C ENST00000259239.3 + 7 1342 c.634G>C c.(634-636)Gat>Cat p.D212H IMP4_ENST00000409935.1_Missense_Mutation_p.D212H NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 212 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding p.D212H(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CGTGCCCAAAGATGACAGCCA 0.592000 18 89 0 0 0.038395 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062382 144062382 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr7:144062382G>A ENST00000056217.5 + 2 2794 c.2620G>A c.(2620-2622)Ggt>Agt p.G874S NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 874 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.G874S(1) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) GAACTCAGGGGGTCATGCCAA 0.612000 74 140 0 0 0.048971 0 0 PHKA1 5255 broad.mit.edu 37 X 71839145 71839145 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chrX:71839145C>T ENST00000373545.3 - 19 2409 c.1971G>A c.(1969-1971)atG>atA p.M657I PHKA1_ENST00000373542.4_Missense_Mutation_p.M716I|PHKA1_ENST00000339490.3_Missense_Mutation_p.M716I|PHKA1_ENST00000541944.1_Missense_Mutation_p.M657I|PHKA1_ENST00000373539.3_Missense_Mutation_p.M716I P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 662 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.M716I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TAGGAAGATACATGTGAACAT 0.388000 10 4 0 0 0.069234 0 0 KCNU1 157855 broad.mit.edu 37 8 36793051 36793051 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:36793051A>T ENST00000399881.3 + 27 3100 c.3063A>T c.(3061-3063)ccA>ccT p.P1021P NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1021 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.P1021P(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCACCCGGCCAGCCAATGAGT 0.458000 71 103 0 0 0.048971 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50685381 50685381 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:50685381C>T ENST00000446044.1 + 13 1649 c.1053C>T c.(1051-1053)atC>atT p.I351I MAPKAPK3_ENST00000357955.2_Silent_p.I351I NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 351 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.I351I(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGTGAAGATCAAGGACCTGA 0.552000 42 147 0 0 0.098360 0 0 POP1 10940 broad.mit.edu 37 8 99168597 99168597 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:99168597G>A ENST00000401707.2 + 15 2458 c.2377G>A c.(2377-2379)Gaa>Aaa p.E793K POP1_ENST00000349693.3_Missense_Mutation_p.E793K NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 793 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity p.E793K(1) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGAGGCCAGTGAAAACCATGT 0.512000 35 216 0 0 0.069456 0 0 RCSD1 92241 broad.mit.edu 37 1 167666699 167666699 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:167666699G>A ENST00000367854.3 + 6 1169 c.838G>A c.(838-840)Gag>Aag p.E280K RCSD1_ENST00000537350.1_Missense_Mutation_p.E250K NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 280 RCSD. p.E280K(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) GGCCCAAGAGGAGGTCCCGGA 0.612000 10 69 0 0 0.069234 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299223 186299223 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:186299223G>C ENST00000439351.1 + 6 1449 c.520G>C c.(520-522)Gag>Cag p.E174Q DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 174 protein folding endoplasmic reticulum lumen heat shock protein binding p.E174Q(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTGTCGGCAAGAGATGCGGAC 0.517000 31 139 0 0 0.069456 0 0 ZNF285 26974 broad.mit.edu 37 19 44891096 44891096 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr19:44891096G>A ENST00000330997.4 - 4 1375 c.1311C>T c.(1309-1311)ttC>ttT p.F437F ZNF285_ENST00000544719.2_Silent_p.F437F|ZNF285_ENST00000591679.1_Silent_p.F444F|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 p.F437F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TACATTGGCTGAAGCCCTTTC 0.473000 21 109 0 0 0.055883 0 0 PPP6R3 55291 broad.mit.edu 37 11 68331848 68331848 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:68331848C>A ENST00000393799.2 + 9 1190 c.923C>A c.(922-924)gCc>gAc p.A308D PPP6R3_ENST00000265636.5_Missense_Mutation_p.A308D|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A308D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A308D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393800.2_Missense_Mutation_p.A308D Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 308 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding p.A308D(2) breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GTTCTAGAAGCCATCAGAGGA 0.458000 9 240 1.08611e-07 1.16016e-07 0.080935 1 0 USP43 124739 broad.mit.edu 37 17 9631804 9631804 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr17:9631804G>T ENST00000285199.7 + 15 2965 c.2869G>T c.(2869-2871)Gag>Tag p.E957* USP43_ENST00000570475.1_Nonsense_Mutation_p.E952*|USP43_ENST00000570827.2_3'UTR NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.E958*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GAACTGGAAGGAGAGCTTCCA 0.552000 12 28 9.05144e-12 1.00691e-11 0.105934 1 0 SPAG17 200162 broad.mit.edu 37 1 118628687 118628687 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:118628687C>G ENST00000336338.5 - 13 1685 c.1620G>C c.(1618-1620)aaG>aaC p.K540N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 540 cilium|flagellar axoneme|microtubule p.K540N(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GATCAAAATTCTTTTGGTCCT 0.423000 27 60 0 0 0.034045 0 0 OR5B21 219968 broad.mit.edu 37 11 58275356 58275356 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr11:58275356C>T ENST00000360374.2 - 1 222 c.223G>A c.(223-225)Gta>Ata p.V75I NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V75I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTGGGGGCTACAGCTGATGAG 0.512000 15 71 0 0 0.024245 0 0 KCNH1 3756 broad.mit.edu 37 1 211276926 211276926 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:211276926C>G ENST00000367007.4 - 3 391 c.222G>C c.(220-222)ctG>ctC p.L74L KCNH1_ENST00000271751.4_Silent_p.L74L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 74 PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.L74L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTTTATCAGTCAGCTCCCCAT 0.328000 17 72 0 0 0.033300 0 0 SLMAP 7871 broad.mit.edu 37 3 57827025 57827025 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr3:57827025G>A ENST00000383718.3 + 3 444 c.e3-1 SLMAP_ENST00000416870.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site|SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000295951.3_Splice_Site Q14BN4 SLMAP_HUMAN sarcolemma associated protein muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding p.?(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GTTTCAACCAGTTACCCATGG 0.318000 51 20 0 0 0.048971 0 0 GTF3C3 9330 broad.mit.edu 37 2 197650253 197650253 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:197650253G>C ENST00000263956.3 - 7 1042 c.953C>G c.(952-954)tCa>tGa p.S318* GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S318* NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 318 transcription factor TFIIIC complex DNA binding|protein binding p.S318*(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTGGTGTTTTGAGAAAGCTTC 0.343000 11 48 0 0 0.080935 0 0 DACH1 1602 broad.mit.edu 37 13 72049858 72049858 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr13:72049858T>A ENST00000305425.4 - 9 2422 c.2000A>T c.(1999-2001)gAt>gTt p.D667V DACH1_ENST00000354591.4_Missense_Mutation_p.D465V|DACH1_ENST00000313174.7_Missense_Mutation_p.D519V|DACH1_ENST00000359684.2_Missense_Mutation_p.D719V NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 717 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.D667V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCTGAGACTATCTGTTGAAGC 0.393000 106 80 0 0 0.048971 0 0 FAT4 79633 broad.mit.edu 37 4 126336800 126336800 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr4:126336800A>C ENST00000394329.3 + 5 6695 c.6682A>C c.(6682-6684)Act>Cct p.T2228P FAT4_ENST00000335110.5_Missense_Mutation_p.T526P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2228 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T2228P(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTACCATTTAACTGTTCAGGC 0.438000 25 121 0 0 0.099896 0 0 MCPH1 79648 broad.mit.edu 37 8 6357451 6357451 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr8:6357451G>A ENST00000344683.5 + 12 2290 c.e12+1 ANGPT2_ENST00000325203.5_3'UTR|ANGPT2_ENST00000415216.1_3'UTR NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 microtubule organizing center p.?(1) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) TGCAGCTCCCGTAAGTCAGAT 0.428000 15 50 0 0 0.020292 0 0 DYRK4 8798 broad.mit.edu 37 12 4708904 4708904 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr12:4708904C>G ENST00000540757.2 + 8 891 c.731C>G c.(730-732)gCc>gGc p.A244G DYRK4_ENST00000010132.5_Missense_Mutation_p.A244G|DYRK4_ENST00000543431.1_Missense_Mutation_p.A244G NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 244 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A646G(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) AAGGGCCAAGCCTCTGTTAAA 0.428000 18 80 0 0 0.038395 0 0 ZNF644 84146 broad.mit.edu 37 1 91406112 91406112 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:91406112G>C ENST00000370440.1 - 3 1016 c.799C>G c.(799-801)Caa>Gaa p.Q267E ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267E|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron Q9H582 ZN644_HUMAN zinc finger protein 644 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q267E(1) breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATAAGAAATTGAATGAACTCT 0.348000 30 122 0 0 0.034045 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167231 140167231 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr5:140167231G>A ENST00000504120.2 + 1 1356 c.1356G>A c.(1354-1356)gcG>gcA p.A452A PCDHA1_ENST00000378133.3_Silent_p.A452A|PCDHA1_ENST00000394633.3_Silent_p.A452A NM_018900.2 NP_061723.1 p.A452A(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAACGCGCCTGCGTTCG 0.682000 40 147 0 0 0.104719 0 0 TACC2 10579 broad.mit.edu 37 10 123843281 123843281 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr10:123843281C>T ENST00000369005.1 + 4 1606 c.1266C>T c.(1264-1266)ctC>ctT p.L422L TACC2_ENST00000453444.2_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L422L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 422 microtubule organizing center|nucleus nuclear hormone receptor binding p.L422L(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCAAGCCTCGCTTCATTCC 0.557000 42 109 0 0 0.048971 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783666 149783666 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr1:149783666G>C ENST00000427880.2 - 1 259 c.213C>G c.(211-213)ttC>ttG p.F71L HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.F71L|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.F71L Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 71 nucleosome assembly nucleosome|nucleus DNA binding p.F71L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CGATGCGCTCGAAGATGTCGT 0.627000 41 262 0 0 0.048971 0 0 HYI 81888 broad.mit.edu 37 1 43917930 43917930 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:43917930C>G ENST00000583037.1 - 3 567 c.153G>C c.(151-153)gaG>gaC p.E51D HYI_ENST00000372434.1_Missense_Mutation_p.E149D|HYI_ENST00000372426.1_Missense_Mutation_p.E76D|HYI_ENST00000372432.1_Missense_Mutation_p.E124D|SZT2_ENST00000372442.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.E124D|HYI_ENST00000372425.4_Missense_Mutation_p.E124D|SZT2_ENST00000562955.1_3'UTR NM_001190880.2 NP_001177809.1 Q5T013 HYI_HUMAN hydroxypyruvate isomerase (putative) 124 hydroxypyruvate isomerase activity p.E51D(1)|p.E124D(1) large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 6 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGGCCTCCATCTCAGCCTTGA 0.562000 7 27 0 0 0.029380 0 0 BRMS1 25855 broad.mit.edu 37 11 66105149 66105149 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:66105149G>C ENST00000425825.2 - 10 1017 c.863C>G c.(862-864)cCg>cGg p.P288R BRMS1_ENST00000359957.3_3'UTR|RP11-867G23.12_ENST00000526655.1_RNA NM_001024957.1 NP_001020128.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 0 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding p.P288R(1) large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 TCAGCTCCACGGCCACAGCTG 0.662000 13 17 0 0 0.093190 0 0 SEC31A 22872 broad.mit.edu 37 4 83776177 83776177 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:83776177G>A ENST00000432794.1 - 17 2050 c.1887C>T c.(1885-1887)atC>atT p.I629I SEC31A_ENST00000508502.1_Silent_p.I629I|SEC31A_ENST00000505984.1_Silent_p.I590I|SEC31A_ENST00000505472.1_Silent_p.I629I|SEC31A_ENST00000508479.1_Silent_p.I629I|SEC31A_ENST00000311785.7_Silent_p.I629I|SEC31A_ENST00000326950.5_Silent_p.I590I|SEC31A_ENST00000448323.1_Silent_p.I629I|SEC31A_ENST00000264405.5_Silent_p.I362I|SEC31A_ENST00000395310.2_Silent_p.I629I|SEC31A_ENST00000513858.1_Silent_p.I590I|SEC31A_ENST00000509142.1_Silent_p.I629I|SEC31A_ENST00000355196.2_Silent_p.I629I|SEC31A_ENST00000348405.4_Silent_p.I590I|SEC31A_ENST00000500777.2_Silent_p.I590I|SEC31A_ENST00000443462.2_Silent_p.I624I O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 629 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding p.I629I(2) SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) CCACTGCAGTGATGAGCTTGA 0.348000 7 34 0 0 0.029380 0 0 NUDT14 256281 broad.mit.edu 37 14 105644073 105644073 + Splice_Site SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr14:105644073C>T ENST00000392568.2 - 2 175 c.e2-1 RP11-44N21.4_ENST00000548203.1_RNA NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity p.?(1) cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) GGGCACCATTCTAGAAGGGGC 0.617000 HNSCC(42;0.11) 50 159 0 0 0.048971 0 0 SCNN1B 6338 broad.mit.edu 37 16 23387131 23387131 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:23387131C>T ENST00000343070.2 + 8 1401 c.1225C>T c.(1225-1227)Ccc>Tcc p.P409S SCNN1B_ENST00000307331.5_Missense_Mutation_p.P454S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P382S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.P373S NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 409 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding p.P409S(1) 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) GTACCCACTGCCCCGTGGGGA 0.617000 4 169 0 0 0.009096 0 0 CRNKL1 51340 broad.mit.edu 37 20 20026049 20026049 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:20026049C>T ENST00000377340.2 - 7 1218 c.1187G>A c.(1186-1188)cGg>cAg p.R396Q CRNKL1_ENST00000377327.4_Missense_Mutation_p.R384Q|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R235Q NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 396 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding p.R396L(1)|p.R396Q(1) breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 ATACACTTTCCGTGCATGGGC 0.418000 44 190 0 0 0.104719 0 0 FKBP5 2289 broad.mit.edu 37 6 35554818 35554818 + Missense_Mutation SNP T T C rs61753297 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr6:35554818T>C ENST00000542713.1 - 7 899 c.742A>G c.(742-744)Act>Gct p.T248A FKBP5_ENST00000536438.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000539068.1_Missense_Mutation_p.Y278C|FKBP5_ENST00000540787.1_Missense_Mutation_p.Y99C|FKBP5_ENST00000357266.4_Missense_Mutation_p.Y278C NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 0 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity p.Y278C(1)|p.T248A(1) breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 CACCTTGAAGTATACGGTTCC 0.408000 95 91 0 0 0.048971 0 0 MCM3AP 8888 broad.mit.edu 37 21 47674341 47674341 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:47674341C>T ENST00000397708.1 - 20 4355 c.4101G>A c.(4099-4101)ccG>ccA p.P1367P MCM3AP_ENST00000291688.1_Silent_p.P1367P|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000590829.1_RNA O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1367 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding p.P1367P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CCTCTACATCCGGCAACACCA 0.617000 9 153 0 0 0.047766 0 0 FLG 2312 broad.mit.edu 37 1 152276103 152276103 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:152276103C>A ENST00000368799.1 - 3 11294 c.11259G>T c.(11257-11259)gaG>gaT p.E3753D FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3753 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.E3753D(1) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGACCCTCTTGGGACG 0.617000 Ichthyosis 155 941 6.42063e-57 7.49074e-57 0.048971 1 0 TGM2 7052 broad.mit.edu 37 20 36758657 36758657 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:36758657C>T ENST00000361475.2 - 13 2201 c.2028G>A c.(2026-2028)gtG>gtA p.V676V TGM2_ENST00000536724.1_Silent_p.V616V|TGM2_ENST00000536701.1_Silent_p.V595V NM_004613.2|NM_198951.1 NP_004604.2|NP_945189.1 P21980 TGM2_HUMAN transglutaminase 2 676 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity p.V676V(1) endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) GGAAGCCCTTCACAGCCTTCA 0.587000 4 31 0 0 0.009096 0 0 SCAPER 49855 broad.mit.edu 37 15 77025725 77025725 + Splice_Site SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr15:77025725C>G ENST00000538941.2 - 16 2068 c.1129G>C c.(1129-1131)Gta>Cta p.V377L SCAPER_ENST00000563290.1_Splice_Site_p.V623L|SCAPER_ENST00000324767.7_Splice_Site_p.V623L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 622 endoplasmic reticulum|nucleus zinc ion binding p.V623L(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 ATTTCATTTACCTTTAAAAAA 0.348000 7 63 0 0 0.029380 0 0 LRRC29 26231 broad.mit.edu 37 16 67242311 67242311 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:67242311A>G ENST00000409037.1 - 2 1085 c.189T>C c.(187-189)tgT>tgC p.C63C LRRC29_ENST00000393992.1_Silent_p.C63C|LRRC29_ENST00000409509.1_Silent_p.C63C|LRRC29_ENST00000341546.3_Silent_p.C63C Q8WV35 LRC29_HUMAN leucine rich repeat containing 29 63 p.C63C(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTGGCTCTGGACAGGCGTCCT 0.592000 3 187 0 0 0.004672 0 0 TRPM5 29850 broad.mit.edu 37 11 2439011 2439011 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:2439011C>G ENST00000452833.1 - 7 969 c.961G>C c.(961-963)Gag>Cag p.E321Q TRPM5_ENST00000528453.1_Missense_Mutation_p.E319Q|TRPM5_ENST00000155858.6_Missense_Mutation_p.E319Q|TRPM5_ENST00000533060.1_Missense_Mutation_p.E319Q Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, subfamily M, member 5 319 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity p.E319Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCTCCTGCTCGAAGTCATAC 0.662000 5 18 0 0 0.029380 0 0 SVIL 6840 broad.mit.edu 37 10 29777621 29777621 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr10:29777621G>A ENST00000375398.2 - 25 4706 c.4257C>T c.(4255-4257)agC>agT p.S1419S SVIL_ENST00000375400.3_Silent_p.S993S|SVIL_ENST00000355867.4_Silent_p.S1419S|SVIL_ENST00000538146.1_Silent_p.S211S|SVIL_ENST00000535393.1_Silent_p.S333S O95425 SVIL_HUMAN supervillin 1419 Interaction with NEB. cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.S1419S(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) GGCTGACGTTGCTGAAGTTTT 0.507000 10 35 0 0 0.080935 0 0 ANK2 287 broad.mit.edu 37 4 114290876 114290876 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:114290876G>A ENST00000357077.4 + 43 11578 c.11525G>A c.(11524-11526)cGg>cAg p.R3842Q ANK2_ENST00000509550.1_Missense_Mutation_p.R933Q|ANK2_ENST00000510275.2_Missense_Mutation_p.R409Q|ANK2_ENST00000506722.1_Missense_Mutation_p.R1748Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R1757Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R3809Q NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3809 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R3842Q(1) 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) AGCTCTCCGCGGAAAACCAGC 0.532000 11 68 0 0 0.080935 0 0 AP1B1 162 broad.mit.edu 37 22 29730359 29730359 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr22:29730359G>C ENST00000357586.2 - 17 2390 c.2204C>G c.(2203-2205)tCa>tGa p.S735* AP1B1_ENST00000415447.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000402502.1_Nonsense_Mutation_p.S728*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.S728*|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000317368.7_Intron|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.S735* NM_001127.3 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 735 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity p.S735*(1) endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAAGGTGCCTGAGATCTCCAG 0.617000 13 37 0 0 0.093190 0 0 CD300LF 146722 broad.mit.edu 37 17 72691301 72691301 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:72691301G>A ENST00000326165.6 - 7 918 c.807C>T c.(805-807)ctC>ctT p.L269L CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Silent_p.L272L|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000583937.1_Silent_p.L284L|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000343125.4_3'UTR NM_139018.3 NP_620587.2 Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 269 integral to membrane|plasma membrane receptor activity p.L269L(2) endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGTGGCTACTGAGGTGGCCCA 0.602000 26 90 0 0 0.030593 0 0 ZNF99 7652 broad.mit.edu 37 19 22939544 22939544 + Missense_Mutation SNP A A C rs58378942 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:22939544A>C ENST00000397104.3 - 7 2626 c.2627T>G c.(2626-2628)aTg>aGg p.M876R zinc finger protein 99 p.M876R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CTTATGTTTCATAAGGGTTGA 0.343000 3 69 0 0 0.004672 0 0 HLA-A 3105 broad.mit.edu 37 6 29911314 29911314 + Missense_Mutation SNP C C T rs66792072 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr6:29911314C>T ENST00000396634.1 + 5 954 c.613C>T c.(613-615)Cgc>Tgc p.R205C HLA-A_ENST00000376802.2_Missense_Mutation_p.R205C|HLA-A_ENST00000376809.5_Missense_Mutation_p.R205C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R205C P30443 1A01_HUMAN major histocompatibility complex, class I, A 205 Alpha-2. R -> H (in dbSNP:rs17185861). 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 p.R205C(1) 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 GACGCTGCAGCGCACGGGTAC 0.652000 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) 8 80 0 0 0.047766 0 0 DOCK9 23348 broad.mit.edu 37 13 99520199 99520199 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr13:99520199C>T ENST00000376460.1 - 29 3237 c.3157G>A c.(3157-3159)Gct>Act p.A1053T DOCK9_ENST00000442173.1_Missense_Mutation_p.A1053T|DOCK9_ENST00000448493.2_Missense_Mutation_p.A1065T|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1054T NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 1054 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity p.A1053T(1)|p.A1065T(1)|p.A1054T(1) breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TCTCCAGGAGCAAAACAGCTA 0.403000 6 21 0 0 0.047766 0 0 ZNF516 9658 broad.mit.edu 37 18 74153297 74153297 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:74153297C>T ENST00000443185.2 - 3 2031 c.1714G>A c.(1714-1716)Ggc>Agc p.G572S ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 572 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G572S(1) central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CAGGCGGAGCCAGGGCTGCTG 0.736000 6 15 0 0 0.029380 0 0 MRPL35 51318 broad.mit.edu 37 2 86434448 86434448 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:86434448A>C ENST00000337109.4 + 3 410 c.376A>C c.(376-378)Aag>Cag p.K126Q MRPL35_ENST00000605125.1_Intron|MRPL35_ENST00000254644.8_Missense_Mutation_p.K126Q|MRPL35_ENST00000409180.1_Missense_Mutation_p.K126Q NM_016622.3 NP_057706.2 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 126 translation mitochondrial ribosome structural constituent of ribosome p.K126Q(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2) 14 GGTGAGGAGAAAGGTGAGTCT 0.468000 20 56 0 0 0.069288 0 0 KMT2C 58508 broad.mit.edu 37 7 151945220 151945220 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:151945220C>G ENST00000355193.2 - 14 2517 c.2299G>C c.(2299-2301)Gag>Cag p.E767Q KMT2C_ENST00000262189.6_Missense_Mutation_p.E767Q lysine (K)-specific methyltransferase 2C p.E767Q(2) AATGATGACTCTGTCTCAGAT 0.413000 5 205 0 0 0.021553 0 0 OR2Z1 284383 broad.mit.edu 37 19 8842207 8842207 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:8842207G>A ENST00000324060.2 + 1 892 c.817G>A c.(817-819)Gtg>Atg p.V273M NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V273M(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCAGGATAACGTGGTTTCCCT 0.537000 27 160 0 0 0.108266 0 0 NCF2 4688 broad.mit.edu 37 1 183532680 183532680 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:183532680A>T ENST00000413720.1 - 11 1206 c.932T>A c.(931-933)gTg>gAg p.V311E NCF2_ENST00000418089.1_Missense_Mutation_p.V275E|NCF2_ENST00000367535.3_Missense_Mutation_p.V356E|NCF2_ENST00000367536.1_Missense_Mutation_p.V356E|NCF2_ENST00000469280.1_5'UTR NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 356 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding p.V356E(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 CTTGTAGTGCACCTTGAGTGT 0.547000 45 384 0 0 0.045515 0 0 BRWD1 54014 broad.mit.edu 37 21 40568278 40568278 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:40568278C>T ENST00000342449.3 - 41 6795 c.6717G>A c.(6715-6717)acG>acA p.T2239T BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus p.T2239T(1) cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCTGATTTCTCGTTTTTATTT 0.393000 67 483 0 0 0.048971 0 0 RARA 5914 broad.mit.edu 37 17 38510626 38510626 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:38510626C>T ENST00000254066.5 + 7 1335 c.880C>T c.(880-882)Cgg>Tgg p.R294W RARA_ENST00000394086.3_Missense_Mutation_p.R310W|RARA_ENST00000394081.3_Missense_Mutation_p.R289W|RARA_ENST00000425707.3_Missense_Mutation_p.R197W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R294W NM_000964.3 NP_000955.1 P10276 RARA_HUMAN retinoic acid receptor, alpha 294 Ligand-binding. apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus cytoplasm|nucleoplasm chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.R294W(1) breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2) 16 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00143) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799) GACCCTGAACCGGACCCAGAT 0.642000 T """PML, ZNF145, TIF1, NUMA1, NPM1""" APL 21 93 0 0 0.076483 0 0 MTTP 4547 broad.mit.edu 37 4 100532321 100532321 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:100532321G>C ENST00000457717.1 + 14 2047 c.1791G>C c.(1789-1791)ctG>ctC p.L597L MTTP_ENST00000265517.5_Silent_p.L597L|MTTP_ENST00000511045.1_Silent_p.L624L|RP11-766F14.1_ENST00000508578.1_RNA NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 597 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity p.L597L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) GTCGAGTTCTGAAGGAAATGG 0.393000 22 86 0 0 0.091800 0 0 AHNAK 79026 broad.mit.edu 37 11 62288867 62288867 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:62288867G>A ENST00000378024.4 - 5 13296 c.13022C>T c.(13021-13023)cCt>cTt p.P4341L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4341 nervous system development nucleus protein binding p.P4341L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GTCAGCCTTAGGAAGGGTAAC 0.502000 10 388 0 0 0.069234 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50684226 50684226 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr3:50684226C>A ENST00000446044.1 + 11 1481 c.885C>A c.(883-885)atC>atA p.I295I MAPKAPK3_ENST00000357955.2_Silent_p.I295I NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 295 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.I295I(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GGCTGACCATCACTCAGTTCA 0.622000 14 70 1.5739e-10 1.72337e-10 0.028581 1 0 FAM193A 8603 broad.mit.edu 37 4 2692602 2692602 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:2692602C>T ENST00000324666.5 + 13 2186 c.1835C>T c.(1834-1836)aCg>aTg p.T612M FAM193A_ENST00000545951.1_Missense_Mutation_p.T612M|FAM193A_ENST00000505311.1_Missense_Mutation_p.T612M|FAM193A_ENST00000382839.3_Missense_Mutation_p.T612M|FAM193A_ENST00000502458.1_Missense_Mutation_p.T634M NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 612 p.T612M(1) NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GTCATGGCCACGTCATCAGCC 0.448000 15 92 0 0 0.033300 0 0 KLHL1 57626 broad.mit.edu 37 13 70314531 70314531 + Silent SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr13:70314531A>G ENST00000377844.4 - 8 2556 c.1797T>C c.(1795-1797)aaT>aaC p.N599N KLHL1_ENST00000545028.1_Silent_p.N406N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 599 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.N599N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTACTTGCCATTCAATGCTG 0.318000 10 27 0 0 0.069234 0 0 RBM10 8241 broad.mit.edu 37 X 47044970 47044970 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:47044970C>T ENST00000377604.3 + 20 3038 c.2296C>T c.(2296-2298)Cgc>Tgc p.R766C RBM10_ENST00000329236.7_Missense_Mutation_p.R688C|RBM10_ENST00000345781.6_Missense_Mutation_p.R689C NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 766 mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 GCTCTGCCGACGCCAGTTCCC 0.667000 4 4 0 0 0.009096 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42410144 42410144 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:42410144G>A ENST00000599846.1 + 27 2751 c.2626G>A c.(2626-2628)Gag>Aag p.E876K ARHGEF1_ENST00000378152.4_Missense_Mutation_p.E802K|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.E820K|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.E787K|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.E835K Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 820 S -> R (in Ref. 3; CAA70356). cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity p.E835K(1) breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACCAGGCCCCGAGGGCCAGCT 0.642000 26 125 0 0 0.034045 0 0 HERC2P9 440248 broad.mit.edu 37 15 28900454 28900454 + RNA SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr15:28900454G>A ENST00000528584.1 + 0 50 NR_036443.1 CAGTCCTTCCGTCATGGGACA 0.438000 3 35 0 0 0.004672 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 5 133 0 0 0.029380 0 0 TMEM163 81615 broad.mit.edu 37 2 135308215 135308215 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:135308215G>A ENST00000281924.6 - 4 448 c.384C>T c.(382-384)gaC>gaT p.D128D NM_030923.4 NP_112185.1 Q8TC26 TM163_HUMAN transmembrane protein 163 128 integral to membrane p.D128D(1) endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(221;0.154) ATGACAGGACGTCCAGGATGG 0.502000 11 76 0 0 0.080935 0 0 ELOVL7 79993 broad.mit.edu 37 5 60083198 60083198 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr5:60083198C>T ENST00000508821.1 - 3 341 c.27G>A c.(25-27)agG>agA p.R9R ELOVL7_ENST00000425382.1_Silent_p.R9R|ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000438340.1_Silent_p.R9R NM_024930.2 NP_079206.2 A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 9 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding p.R9R(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) GATGCACAGTCCTCGATGTAA 0.338000 11 59 0 0 0.105934 0 0 DLST 1743 broad.mit.edu 37 14 75369021 75369021 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr14:75369021C>G ENST00000334220.4 + 15 1411 c.1350C>G c.(1348-1350)ctC>ctG p.L450L DLST_ENST00000334212.6_Silent_p.L364L NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 450 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity p.L450L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) GAGTCCTCCTCCTGGATCTTT 0.547000 9 43 0 0 0.069234 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:58385546G>T ENST00000435989.2 - 3 1446 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(10) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393000 4 14 0.00024832 0.000258887 0.009096 1 0 YAE1D1 57002 broad.mit.edu 37 7 39612174 39612174 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:39612174G>C ENST00000223273.2 + 3 593 c.550G>C c.(550-552)Gaa>Caa p.E184Q YAE1D1_ENST00000432096.2_Intron NM_020192.3 NP_064577.1 Q9NRH1 CG036_HUMAN Yae1 domain containing 1 184 p.E184Q(1) TTCATATGTAGAATGTTGTAG 0.393000 20 92 0 0 0.049695 0 0 SERPINB13 5275 broad.mit.edu 37 18 61255985 61255985 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:61255985C>G ENST00000344731.5 + 2 186 c.84C>G c.(82-84)ttC>ttG p.F28L SERPINB13_ENST00000269489.5_Missense_Mutation_p.F28L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 28 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.F28L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GCAACATCTTCTTTTCCCCTG 0.532000 19 53 0 0 0.043863 0 0 LILRA2 11027 broad.mit.edu 37 19 55085807 55085807 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:55085807C>T ENST00000251377.3 + 4 243 c.110C>T c.(109-111)tCt>tTt p.S37F LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.S37F|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391737.1_Missense_Mutation_p.S25F|LILRA2_ENST00000391738.3_Missense_Mutation_p.S37F leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 p.S37F(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) GAGCCAGGCTCTGTGATCATC 0.542000 99 157 0 0 0.048971 0 0 HIST3H2BB 128312 broad.mit.edu 37 1 228645991 228645991 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:228645991G>A ENST00000369160.2 + 1 184 c.161G>A c.(160-162)gGc>gAc p.G54D NM_175055.2 NP_778225.1 Q8N257 H2B3B_HUMAN histone cluster 3, H2bb 54 nucleosome assembly nucleosome|nucleus DNA binding p.G54D(2) skin(1) 1 Prostate(94;0.183) CCCGACACCGGCATCTCGTCC 0.587000 4 223 0 0 0.009096 0 0 FLRT2 23768 broad.mit.edu 37 14 86088847 86088847 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr14:86088847C>T ENST00000330753.4 + 2 1756 c.989C>T c.(988-990)tCa>tTa p.S330L FLRT2_ENST00000554746.1_Missense_Mutation_p.S330L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 330 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.S330L(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) TATATCCCTTCATCTCTCAAC 0.478000 94 241 0 0 0.048971 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 5 82 0 0 0.014758 0 0 PAK3 5063 broad.mit.edu 37 X 110463610 110463610 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:110463610C>A ENST00000372007.5 + 18 1961 c.1570C>A c.(1570-1572)Cct>Act p.P524T PAK3_ENST00000372010.1_Missense_Mutation_p.P539T|PAK3_ENST00000425146.1_Missense_Mutation_p.P524T|PAK3_ENST00000360648.4_Missense_Mutation_p.P560T|PAK3_ENST00000262836.4_Missense_Mutation_p.P539T|PAK3_ENST00000518291.1_Missense_Mutation_p.P560T|PAK3_ENST00000519681.1_Missense_Mutation_p.P545T|PAK3_ENST00000446737.1_Missense_Mutation_p.P524T|PAK3_ENST00000417227.1_Missense_Mutation_p.P545T NM_002578.3 NP_002569.1 O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding p.P560T(1)|p.P524T(1) breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ATTAGCCAAGCCTCTCTCCAG 0.418000 TSP Lung(19;0.15) 9 16 0.000274275 0.000284433 0.047766 1 0 CUBN 8029 broad.mit.edu 37 10 17142151 17142151 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr10:17142151A>G ENST00000377833.4 - 14 1683 c.1618T>C c.(1618-1620)Tct>Cct p.S540P NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 540 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.S540P(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAAGCAGAAGAGGAATCTCCA 0.408000 17 104 0 0 0.028581 0 0 GRM8 2918 broad.mit.edu 37 7 126544099 126544099 + Silent SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:126544099T>A ENST00000339582.2 - 5 1753 c.945A>T c.(943-945)atA>atT p.I315I GRM8_ENST00000358373.3_Silent_p.I315I|GRM8_ENST00000444921.2_Silent_p.I315I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Silent_p.I315I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 315 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.I315I(2) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGACAGGTGCTATTTTGGATC 0.403000 HNSCC(24;0.065) 35 121 0 0 0.059317 0 0 FASTKD3 79072 broad.mit.edu 37 5 7867809 7867809 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr5:7867809C>T ENST00000264669.5 - 2 524 c.388G>A c.(388-390)Gca>Aca p.A130T MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 130 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.A130T(1) 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 GCTCCTGCTGCCATAGTGTCA 0.418000 14 61 0 0 0.020292 0 0 AFM 173 broad.mit.edu 37 4 74363404 74363404 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:74363404C>G ENST00000226355.3 + 10 1320 c.1227C>G c.(1225-1227)ctC>ctG p.L409L NM_001133.2 NP_001124.1 P43652 AFAM_HUMAN afamin 409 Albumin 3. vitamin transport vitamin E binding p.L409L(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAAAAGCCTCAAGATGGTAC 0.338000 13 29 0 0 0.024245 0 0 RALGPS2 55103 broad.mit.edu 37 1 178753646 178753646 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:178753646G>C ENST00000367635.3 + 3 489 c.151G>C c.(151-153)Gaa>Caa p.E51Q RALGPS2_ENST00000367634.2_Missense_Mutation_p.E51Q NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 51 Ras-GEF. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding p.E51Q(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GGTTACACCAGAAGAATATGC 0.393000 17 77 0 0 0.033300 0 0 NXPH2 11249 broad.mit.edu 37 2 139428760 139428760 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:139428760G>A ENST00000272641.3 - 2 633 c.527C>T c.(526-528)aCc>aTc p.T176I NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 176 IV (linker domain). neuropeptide signaling pathway extracellular region p.T176>?(1)|p.T176I(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GGTCTCCAAGGTAGACTGGGG 0.468000 9 39 0 0 0.058154 0 0 CDH22 64405 broad.mit.edu 37 20 44856245 44856245 + Missense_Mutation SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:44856245A>T ENST00000372262.3 - 3 972 c.572T>A c.(571-573)aTg>aAg p.M191K CDH22_ENST00000537909.1_Missense_Mutation_p.M191K NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 191 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.M191K(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) ATCCGAGGCCATCACCTGCAT 0.682000 12 5 0 0 0.043863 0 0 TCF4 6925 broad.mit.edu 37 18 52946899 52946899 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:52946899G>C ENST00000564403.2 - 9 1082 c.556C>G c.(556-558)Ctt>Gtt p.L186V TCF4_ENST00000570287.2_Intron|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000566279.1_Intron|TCF4_ENST00000565018.2_Intron|TCF4_ENST00000537856.3_Intron|TCF4_ENST00000543082.1_Intron|TCF4_ENST00000354452.3_Intron|TCF4_ENST00000398339.1_Intron|TCF4_ENST00000544241.2_Intron|TCF4_ENST00000356073.4_Intron|TCF4_ENST00000568740.1_Intron|TCF4_ENST00000566286.1_Intron|TCF4_ENST00000457482.3_Intron|TCF4_ENST00000561831.3_Intron|TCF4_ENST00000564228.1_Intron|TCF4_ENST00000570177.2_Intron|TCF4_ENST00000537578.1_Intron|TCF4_ENST00000568673.1_Intron|TCF4_ENST00000540999.1_Intron|TCF4_ENST00000564999.1_Intron|TCF4_ENST00000561992.1_Intron|TCF4_ENST00000567880.1_Intron NM_001243228.1 NP_001230157.1 P15884 ITF2_HUMAN transcription factor 4 183 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGAGGAGAAAGAACCAACTGA 0.473000 10 47 0 0 0.069234 0 0 CDH2 1000 broad.mit.edu 37 18 25593677 25593677 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:25593677C>T ENST00000269141.3 - 3 792 c.369G>A c.(367-369)ctG>ctA p.L123L CDH2_ENST00000399380.3_Silent_p.L92L NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 123 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.L123L(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGGTTGGCTTCAGGCTCAATT 0.418000 51 205 0 0 0.048971 0 0 OR4C6 219432 broad.mit.edu 37 11 55433539 55433539 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:55433539C>T ENST00000314259.3 + 1 926 c.897C>T c.(895-897)ctC>ctT p.L299L NM_001004704.1 NP_001004704.1 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, member 6 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L299L(1) breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 71 TGAAGAAACTCTGGATGAAAT 0.423000 29 55 0 0 0.037714 0 0 SLC7A3 84889 broad.mit.edu 37 X 70149567 70149567 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:70149567G>C ENST00000374299.3 - 2 425 c.281C>G c.(280-282)tCt>tGt p.S94C SLC7A3_ENST00000298085.4_Missense_Mutation_p.S94C Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 94 cellular nitrogen compound metabolic process integral to membrane|plasma membrane p.S94C(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1) 31 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TGCCGAACCAGAACGGGGAAC 0.542000 10 16 0 0 0.080935 0 0 RYR3 6263 broad.mit.edu 37 15 33872188 33872188 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr15:33872188G>C ENST00000389232.4 + 13 1350 c.1280G>C c.(1279-1281)cGc>cCc p.R427P RYR3_ENST00000415757.3_Missense_Mutation_p.R427P NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 427 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R427P(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGAAACAATCGCACAGCTGCC 0.562000 7 28 0 0 0.029380 0 0 EP400NL 347918 broad.mit.edu 37 12 132589770 132589770 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:132589770C>T ENST00000376625.4 + 1 1231 c.1205C>T c.(1204-1206)cCa>cTa p.P402L EP400NL_ENST00000361109.5_Missense_Mutation_p.P249L|EP400NL_ENST00000389560.2_Missense_Mutation_p.P333L|EP400NL_ENST00000392352.1_Missense_Mutation_p.P270L|EP400NL_ENST00000443539.2_Missense_Mutation_p.P270L EP400 N-terminal like p.P402L(2) endometrium(1)|lung(1)|prostate(2)|urinary_tract(1) 5 CTGTATGGACCATTACAAGCA 0.378000 44 27 0 0 0.039052 0 0 SLC25A22 79751 broad.mit.edu 37 11 792032 792032 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:792032C>T ENST00000320230.5 - 10 1336 c.855G>A c.(853-855)ctG>ctA p.L285L SLC25A22_ENST00000531214.1_Silent_p.L285L NM_001191061.1|NM_024698.5 NP_001177990.1|NP_078974.1 Q9H936 GHC1_HUMAN solute carrier family 25 (mitochondrial carrier: glutamate), member 22 285 integral to membrane|mitochondrial inner membrane|nucleus L-glutamate transmembrane transporter activity|protein binding|symporter activity p.L285L(1) endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 5 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) L-Glutamic Acid(DB00142) AGGCGCCCTTCAGGAAGGCCG 0.697000 5 13 0 0 0.029380 0 0 MACF1 23499 broad.mit.edu 37 1 39913530 39913530 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:39913530G>C ENST00000564288.1 + 82 20705 c.19928G>C c.(19927-19929)aGa>aCa p.R6643T MACF1_ENST00000539005.1_Missense_Mutation_p.R4454T|MACF1_ENST00000361689.2_Missense_Mutation_p.R4584T|MACF1_ENST00000372915.3_Missense_Mutation_p.R6542T|MACF1_ENST00000317713.7_Missense_Mutation_p.R4584T|MACF1_ENST00000567887.1_Missense_Mutation_p.R6680T|MACF1_ENST00000289893.4_Missense_Mutation_p.R5086T|MACF1_ENST00000545844.1_Missense_Mutation_p.R4584T Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6652 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding p.R4584T(1)|p.R5086T(1) breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCTATTGAAAGAGGGCGATCA 0.448000 15 46 0 0 0.024245 0 0 TTN 7273 broad.mit.edu 37 2 179411904 179411904 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:179411904G>A ENST00000589042.1 - 340 94572 c.94348C>T c.(94348-94350)Cgt>Tgt p.R31450C TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28882C|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22510C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22577C|TTN_ENST00000460472.2_Missense_Mutation_p.R22385C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29809C|TTN-AS1_ENST00000586452.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29809 Fibronectin type-III 129. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R22510C(1)|p.R28880C(1)|p.R28882C(1)|p.R22577C(1)|p.R22385C(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTGTATTACGTTCTTTCTTC 0.423000 56 215 0 0 0.048971 0 0 BAGE2 85319 broad.mit.edu 37 21 11038962 11038962 + RNA SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:11038962C>G ENST00000470054.1 - 0 1241 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) AATGATGACTCTGTCTCAGAT 0.413000 18 797 0 0 0.043863 0 0 DCHS1 8642 broad.mit.edu 37 11 6662141 6662141 + Missense_Mutation SNP C C T rs143767864 byFrequency TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:6662141C>T ENST00000299441.3 - 2 1115 c.704G>A c.(703-705)cGg>cAg p.R235Q NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587000 45 110 0 0 0.048971 0 0 POPDC3 64208 broad.mit.edu 37 6 105609536 105609536 + Silent SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr6:105609536T>C ENST00000254765.3 - 2 527 c.249A>G c.(247-249)gtA>gtG p.V83V POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA NM_022361.4 NP_071756.2 Q9HBV1 POPD3_HUMAN popeye domain containing 3 83 integral to membrane p.V83V(1) NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1) 26 all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238) TGACAAACAGTACAAAATTCC 0.433000 90 100 0 0 0.048971 0 0 RNASEL 6041 broad.mit.edu 37 1 182555244 182555244 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:182555244T>C ENST00000367559.3 - 2 951 c.698A>G c.(697-699)aAt>aGt p.N233S RNASEL_ENST00000444138.1_Missense_Mutation_p.N233S|RNASEL_ENST00000539397.1_Missense_Mutation_p.N233S NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) 233 2-5A binding (P-loop) 1. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding p.N233S(1) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TCCCCTCACATTGACATCAGC 0.517000 36 136 0 0 0.059317 0 0 HOXB4 3214 broad.mit.edu 37 17 46654110 46654110 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:46654110G>A ENST00000332503.5 - 2 2521 c.730C>T c.(730-732)Ccc>Tcc p.P244S HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 244 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P244S(1) central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 CCTCCATTGGGCCGGCCAGGG 0.697000 11 50 0 0 0.080935 0 0 MYH7 4625 broad.mit.edu 37 14 23896042 23896042 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr14:23896042C>T ENST00000355349.3 - 18 2150 c.1988G>A c.(1987-1989)cGc>cAc p.R663H NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 663 Actin-binding.|Myosin head-like. R -> C (in CMH1).|R -> H (in CMH1).|R -> S (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R663H(2) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) ATGGGTGGAGCGCAAGTTGGT 0.478000 18 46 0 0 0.049695 0 0 STAG2 10735 broad.mit.edu 37 X 123200039 123200039 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:123200039C>T ENST00000371160.1 + 22 2401 c.2111C>T c.(2110-2112)tCa>tTa p.S704L STAG2_ENST00000354548.5_Missense_Mutation_p.S635L|STAG2_ENST00000371145.3_Missense_Mutation_p.S704L|STAG2_ENST00000371157.3_Missense_Mutation_p.S704L|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.S704L|STAG2_ENST00000371144.3_Missense_Mutation_p.S704L NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 704 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding p.S704L(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CATGACCTTTCAAAGTGGGAT 0.289000 19 51 0 0 0.049695 0 0 LEPRE1 64175 broad.mit.edu 37 1 43215938 43215938 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:43215938G>A ENST00000236040.4 - 11 1679 c.1639C>T c.(1639-1641)Cgc>Tgc p.R547C LEPRE1_ENST00000296388.5_Missense_Mutation_p.R547C|LEPRE1_ENST00000397054.3_Missense_Mutation_p.R547C NM_001243246.1 NP_001230175.1 Q32P28 P3H1_HUMAN leucine proline-enriched proteoglycan (leprecan) 1 547 negative regulation of cell proliferation endoplasmic reticulum|proteinaceous extracellular matrix iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity p.R547C(2) large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3) 26 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TCCATGATGCGCCGCACCTTC 0.582000 8 28 0 0 0.038147 0 0 KNDC1 85442 broad.mit.edu 37 10 135013943 135013943 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr10:135013943A>G ENST00000304613.3 + 16 2989 c.2968A>G c.(2968-2970)Agg>Ggg p.R990G KNDC1_ENST00000368572.2_Missense_Mutation_p.R992G|KNDC1_ENST00000368571.2_Missense_Mutation_p.R925G Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 990 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) GTCCAGCAAGAGGCCGTCGCT 0.716000 11 3 0 0 0.028581 0 0 CPD 1362 broad.mit.edu 37 17 28778804 28778804 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:28778804T>A ENST00000225719.4 + 14 3221 c.3145T>A c.(3145-3147)Tgt>Agt p.C1049S CPD_ENST00000543464.2_Missense_Mutation_p.C802S|CPD_ENST00000584051.1_3'UTR NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 1049 Carboxypeptidase-like 3. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding p.C1049S(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 AGAGAAAGACTGTACTTCAAA 0.388000 14 91 0 0 0.105934 0 0 GOLGA2P9 440518 broad.mit.edu 37 19 22785606 22785606 + RNA SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:22785606C>G ENST00000600260.1 + 0 1613 NR_033899.1 ACACTGCCCTCTCTCAGCCAG 0.667000 8 22 0 0 0.047766 0 0 MUC7 4589 broad.mit.edu 37 4 71347033 71347033 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:71347033C>T ENST00000413702.1 + 4 860 c.572C>T c.(571-573)gCc>gTc p.A191V MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 191 Thr-rich. extracellular region protein binding p.A191V(1) 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) ACCACAGCTGCCCCACCCACA 0.587000 6 165 0 0 0.047766 0 0 FERD3L 222894 broad.mit.edu 37 7 19184975 19184975 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:19184975T>C ENST00000275461.3 - 1 69 c.11A>G c.(10-12)tAt>tGt p.Y4C AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 4 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.Y4C(1) breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 GCTCTCCGGATAGGCCGCCAT 0.642000 11 60 0 0 0.093190 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003748 75003748 + Missense_Mutation SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:75003748A>G ENST00000373359.2 - 1 1331 c.1139T>C c.(1138-1140)cTt>cCt p.L380P NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 380 MAGE 2. p.L380P(1) autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TTGCTGGACAAGGAGGTAGAT 0.443000 38 82 0 0 0.074837 0 0 CBLB 868 broad.mit.edu 37 3 105378062 105378062 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr3:105378062C>T ENST00000264122.4 - 19 3022 c.2701G>A c.(2701-2703)Gca>Aca p.A901T CBLB_ENST00000407712.1_Missense_Mutation_p.A116T|CBLB_ENST00000394027.3_Missense_Mutation_p.A879T NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 901 Interaction with SH3KBP1.|Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding p.A901T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTGGCTGGTGCCTGTGAACCA 0.443000 Mis S AML 4 74 0 0 0.014758 0 0 ZIM3 114026 broad.mit.edu 37 19 57647056 57647056 + Missense_Mutation SNP G G C rs150862431 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:57647056G>C ENST00000269834.1 - 5 1034 c.649C>G c.(649-651)Cac>Gac p.H217D NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 217 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H217D(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCTCTGCGTGAGTTTTCTGA 0.428000 40 209 0 0 0.092188 0 0 ZNF831 128611 broad.mit.edu 37 20 57767955 57767955 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:57767955G>T ENST00000371030.2 + 1 1881 c.1881G>T c.(1879-1881)acG>acT p.T627T NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 627 intracellular nucleic acid binding|zinc ion binding p.T627T(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GGGATGAGACGTTCAAAAGGA 0.592000 11 85 2.68362e-12 3.00565e-12 0.093190 1 0 ZNF714 148206 broad.mit.edu 37 19 21281118 21281118 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:21281118G>A ENST00000596143.1 + 3 368 c.e3+1 ZNF714_ENST00000601416.1_Splice_Site|ZNF714_ENST00000596053.1_Splice_Site|ZNF714_ENST00000291770.7_Splice_Site NM_182515.3 NP_872321 Q96N38 ZN714_HUMAN zinc finger protein 714 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.?(2) endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 GTCTTCTTGGGTGAGAATAAC 0.328000 22 65 0 0 0.069288 0 0 CARM1 10498 broad.mit.edu 37 19 11032381 11032381 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:11032381C>A ENST00000327064.4 + 16 1965 c.1775C>A c.(1774-1776)tCc>tAc p.S592Y CARM1_ENST00000344150.4_Missense_Mutation_p.S569Y NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 592 Transactivation domain (By similarity). cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.S592Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 CCCGCCATCTCCATGGCGTCG 0.652000 34 156 5.66738e-07 5.97208e-07 0.086207 1 0 CXXC4 80319 broad.mit.edu 37 4 105411974 105411974 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:105411974C>T ENST00000394767.2 - 2 1436 c.986G>A c.(985-987)cGc>cAc p.R329H CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_Missense_Mutation_p.R160H NM_025212.2 NP_079488.2 Q9H2H0 CXXC4_HUMAN CXXC finger protein 4 160 negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis DNA binding|PDZ domain binding|zinc ion binding p.R160H(1) kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(123;3.05e-08) TCCCGTTTTGCGGTTCCTGCA 0.507000 4 155 0 0 0.014758 0 0 SLC38A2 54407 broad.mit.edu 37 12 46764360 46764360 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:46764360C>G ENST00000256689.5 - 4 693 c.249G>C c.(247-249)gcG>gcC p.A83A SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 83 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.A83A(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TGCCCACAATCGCATTGCTCA 0.393000 24 105 0 0 0.099896 0 0 ZNF668 79759 broad.mit.edu 37 16 31075213 31075213 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:31075213G>A ENST00000538906.1 - 2 1352 c.568C>T c.(568-570)Cac>Tac p.H190Y ZNF668_ENST00000394983.2_Missense_Mutation_p.H190Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.H190Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.H190Y|ZNF668_ENST00000539836.3_Missense_Mutation_p.H213Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.H213Y NM_001172668.1 NP_001166139 Q96K58 ZN668_HUMAN zinc finger protein 668 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H190Y(1)|p.H213Y(1) breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 AGGCCAGCGTGAGTACGCCGG 0.657000 9 14 0 0 0.047766 0 0 LOC645752 645752 broad.mit.edu 37 15 78211548 78211548 + RNA SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr15:78211548T>C ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA CCACCTGGGATTGGAGCTTTC 0.562000 5 164 0 0 0.029380 0 0 OR10T2 128360 broad.mit.edu 37 1 158368889 158368889 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:158368889C>A ENST00000334438.1 - 1 367 c.368G>T c.(367-369)cGc>cTc p.R123L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R123L(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TGCTACATAGCGATCATATCC 0.473000 28 445 1.88708e-17 2.1504e-17 0.037714 1 0 SIRPB2 284759 broad.mit.edu 37 20 1459226 1459226 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:1459226A>C ENST00000359801.3 - 3 514 c.478T>G c.(478-480)Tgg>Ggg p.W160G SIRPB2_ENST00000444444.2_Missense_Mutation_p.W62G|SIRPB2_ENST00000537284.1_Missense_Mutation_p.W22G|SIRPB2_ENST00000608747.1_5'UTR NM_001122962.1 NP_001116434.1 Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 160 Ig-like V-type 2. integral to membrane p.W160G(1)|p.W259G(1) endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGATGATCCACAGGTCTGGT 0.547000 10 76 0 0 0.069234 0 0 SCN3A 6328 broad.mit.edu 37 2 166003482 166003482 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:166003482C>G ENST00000360093.3 - 12 1929 c.1438G>C c.(1438-1440)Gag>Cag p.E480Q SCN3A_ENST00000409101.3_Missense_Mutation_p.E480Q|SCN3A_ENST00000283254.7_Missense_Mutation_p.E480Q NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 480 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E480Q(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCCAACAGCTCTCCTAACCCA 0.443000 33 85 0 0 0.059317 0 0 CENPE 1062 broad.mit.edu 37 4 104080302 104080302 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:104080302G>C ENST00000265148.3 - 22 2555 c.2466C>G c.(2464-2466)ttC>ttG p.F822L CENPE_ENST00000380026.3_Missense_Mutation_p.F797L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 822 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 p.F822L(1) 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) GAAGGGTTTTGAAATTTTGGA 0.348000 11 71 0 0 0.069234 0 0 HMCN1 83872 broad.mit.edu 37 1 186092199 186092199 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:186092199G>A ENST00000271588.4 + 81 12575 c.12346G>A c.(12346-12348)Ggg>Agg p.G4116R HMCN1_ENST00000367492.2_Missense_Mutation_p.G4116R NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4116 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding p.G4116R(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCATAAAGATGGGCGTGCAAT 0.512000 27 166 0 0 0.059317 0 0 UPB1 51733 broad.mit.edu 37 22 24909450 24909450 + Missense_Mutation SNP C C A rs138608016 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr22:24909450C>A ENST00000413389.2 + 5 2007 c.414C>A c.(412-414)aaC>aaA p.N138K UPB1_ENST00000326010.5_Missense_Mutation_p.N206K Q9UBR1 BUP1_HUMAN ureidopropionase, beta 206 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding p.N206N(1)|p.N206K(1) endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) GTGATTTCAACGAGGTGAGCC 0.512000 76 49 5.21738e-30 6.01533e-30 0.048971 1 0 F8 2157 broad.mit.edu 37 X 154124398 154124398 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:154124398C>G ENST00000360256.4 - 22 6583 c.6383G>C c.(6382-6384)gGg>gCg p.G2128A NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2128 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding p.G2128A(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CCACTTCTTCCCATCAAGACT 0.413000 62 92 0 0 0.048971 0 0 PPFIA1 8500 broad.mit.edu 37 11 70172733 70172733 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:70172733G>C ENST00000253925.7 + 7 954 c.739G>C c.(739-741)Gaa>Caa p.E247Q PPFIA1_ENST00000389547.3_Missense_Mutation_p.E247Q|CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 247 cell-matrix adhesion cytoplasm protein binding|signal transducer activity p.E247Q(1) breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AAGCCACGAGGAAGACCTTGC 0.398000 291 384 0 0 0.048971 0 0 TIAM1 7074 broad.mit.edu 37 21 32575277 32575277 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:32575277C>T ENST00000286827.3 - 13 2911 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K TIAM1_ENST00000541036.1_Intron NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 814 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity p.E814K(2) autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 ATTTTGTTTTCTATTAGAAAT 0.378000 26 207 0 0 0.030593 0 0 NXPH2 11249 broad.mit.edu 37 2 139428761 139428761 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:139428761T>A ENST00000272641.3 - 2 632 c.526A>T c.(526-528)Acc>Tcc p.T176S NM_007226.2 NP_009157.1 O95156 NXPH2_HUMAN neurexophilin 2 176 IV (linker domain). neuropeptide signaling pathway extracellular region p.T176S(1)|p.T176>?(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3) 22 BRCA - Breast invasive adenocarcinoma(221;0.101) GTCTCCAAGGTAGACTGGGGG 0.468000 10 38 0 0 0.069234 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20385733 20385733 + RNA SNP A A G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr22:20385733A>G ENST00000430523.3 - 0 2078 NR_003563.1 TACTTCAAGAACTTGATTGTC 0.537000 3 15 0 0 0.004672 0 0 POLR3E 55718 broad.mit.edu 37 16 22337220 22337220 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:22337220G>A ENST00000299853.5 + 18 1654 c.1487G>A c.(1486-1488)cGg>cAg p.R496Q POLR3E_ENST00000564209.1_Missense_Mutation_p.R496Q|POLR3E_ENST00000418581.2_Missense_Mutation_p.R460Q|POLR3E_ENST00000359210.4_Missense_Mutation_p.R496Q NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 496 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity p.R496Q(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) CCCGGTGTGCGGATCAAGGAG 0.692000 9 22 0 0 0.047766 0 0 ALDOB 229 broad.mit.edu 37 9 104192127 104192127 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr9:104192127G>A ENST00000374855.4 - 3 358 c.234C>T c.(232-234)atC>atT p.I78I ALDOB_ENST00000468981.3_5'UTR NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 78 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.I78I(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CGTGGAAAAGGATCACACCCC 0.517000 151 95 0 0 0.048971 0 0 ANO4 121601 broad.mit.edu 37 12 101510560 101510560 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:101510560C>A ENST00000392979.3 + 24 2810 c.2449C>A c.(2449-2451)Cct>Act p.P817T ANO4_ENST00000550015.1_Missense_Mutation_p.P372T|ANO4_ENST00000392977.3_Missense_Mutation_p.P852T|ANO4_ENST00000299222.9_Missense_Mutation_p.P372T NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 852 chloride channel complex chloride channel activity p.P817T(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CTCGGGGACTCCTCTTAAGTA 0.542000 HNSCC(74;0.22) 23 144 3.62473e-10 3.94693e-10 0.062417 1 0 LRGUK 136332 broad.mit.edu 37 7 133812300 133812300 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:133812300C>A ENST00000285928.2 + 1 249 c.180C>A c.(178-180)taC>taA p.Y60* LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 60 ATP binding|kinase activity p.Y60*(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 CCTCCTCCTACCTGCTCCAGC 0.597000 26 154 1.17739e-12 1.32626e-12 0.108266 1 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 31 17 0 0 0.050027 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528318 6528318 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:6528318G>A ENST00000377748.1 - 21 3306 c.2809C>T c.(2809-2811)Cgc>Tgc p.R937C PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R860C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R929C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R860C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R939C|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R897C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R860C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R916C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R860C NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 916 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity p.R937C(1) liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GGGGTGCGGCGGCGGAGACGG 0.677000 5 10 0 0 0.021553 0 0 TCF4 6925 broad.mit.edu 37 18 52946874 52946874 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:52946874G>C ENST00000354452.3 - 9 1174 c.563C>G c.(562-564)tCa>tGa p.S188* TCF4_ENST00000570287.2_Nonsense_Mutation_p.S28*|TCF4_ENST00000564403.2_Nonsense_Mutation_p.S194*|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000566279.1_Nonsense_Mutation_p.S128*|TCF4_ENST00000565018.2_Nonsense_Mutation_p.S188*|TCF4_ENST00000537856.3_Nonsense_Mutation_p.S58*|TCF4_ENST00000543082.1_Nonsense_Mutation_p.S146*|TCF4_ENST00000398339.1_Nonsense_Mutation_p.S290*|TCF4_ENST00000544241.2_Nonsense_Mutation_p.S117*|TCF4_ENST00000356073.4_Nonsense_Mutation_p.S188*|TCF4_ENST00000568740.1_Nonsense_Mutation_p.S163*|TCF4_ENST00000566286.1_Nonsense_Mutation_p.S186*|TCF4_ENST00000457482.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000561831.3_Nonsense_Mutation_p.S28*|TCF4_ENST00000564228.1_Nonsense_Mutation_p.S117*|TCF4_ENST00000570177.2_Nonsense_Mutation_p.S58*|TCF4_ENST00000537578.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000568673.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000540999.1_Nonsense_Mutation_p.S164*|TCF4_ENST00000564999.1_Nonsense_Mutation_p.S188*|TCF4_ENST00000561992.1_Nonsense_Mutation_p.S58*|TCF4_ENST00000567880.1_Nonsense_Mutation_p.S128* NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 188 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding p.S188*(1)|p.S290*(1) breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) AGTGCTTGCTGATGGAGCATA 0.478000 9 60 0 0 0.069234 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419822 105419822 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr14:105419822G>A ENST00000333244.5 - 7 2085 c.1966C>T c.(1966-1968)Cgc>Tgc p.R656C AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 656 nucleus p.R656C(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TTTTTTAAGCGTTTTTCATCG 0.403000 74 350 0 0 0.048971 0 0 TMX3 54495 broad.mit.edu 37 18 66381117 66381117 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:66381117C>T ENST00000299608.2 - 2 383 c.67G>A c.(67-69)Gtc>Atc p.V23I TMX3_ENST00000562706.1_Missense_Mutation_p.V23I|TMX3_ENST00000443099.2_Missense_Mutation_p.V23I NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 23 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.V23I(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 CCTTTACAGACGACCATATCA 0.294000 4 15 0 0 0.009096 0 0 SFRP4 6424 broad.mit.edu 37 7 37955842 37955842 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:37955842C>A ENST00000436072.2 - 1 675 c.298G>T c.(298-300)Gtg>Ttg p.V100L EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 100 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.V100L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CGTTGGCACACCGACTTGCAC 0.627000 17 60 5.03518e-11 5.57568e-11 0.043863 1 0 PDE1C 5137 broad.mit.edu 37 7 31862705 31862705 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:31862705T>C ENST00000396184.3 - 15 1768 c.1564A>G c.(1564-1566)Agg>Ggg p.R522G PDE1C_ENST00000321453.7_Missense_Mutation_p.R522G|PDE1C_ENST00000396193.1_Missense_Mutation_p.R582G|PDE1C_ENST00000396182.2_Missense_Mutation_p.R522G|PDE1C_ENST00000396191.1_Missense_Mutation_p.R522G NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 522 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.R522G(2)|p.R582G(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) ACCTTGGCCCTCCATCTCTCC 0.458000 35 170 0 0 0.074837 0 0 TRIM36 55521 broad.mit.edu 37 5 114469698 114469698 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr5:114469698C>G ENST00000513154.1 - 8 1683 c.1357G>C c.(1357-1359)Gag>Cag p.E453Q TRIM36_ENST00000514154.1_Missense_Mutation_p.E310Q|TRIM36_ENST00000282369.3_Missense_Mutation_p.E465Q Q9NQ86 TRI36_HUMAN tripartite motif containing 36 465 Fibronectin type-III. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding p.E465Q(1) breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) ACTTCTATCTCATTCCATGAC 0.363000 14 62 0 0 0.020292 0 0 T 6862 broad.mit.edu 37 6 166571980 166571980 + Silent SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr6:166571980C>A ENST00000296946.2 - 9 1599 c.1131G>T c.(1129-1131)cgG>cgT p.R377R T_ENST00000366871.3_Silent_p.R319R NM_003181.3 NP_003172.1 O15178 BRAC_HUMAN T, brachyury homolog (mouse) 377 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity p.R377R(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CGGGGGAGCCCCGGAAGAACT 0.706000 Chordoma, Familial Clustering of 16 51 3.32936e-07 3.52732e-07 0.038395 1 0 C20orf96 140680 broad.mit.edu 37 20 256641 256641 + Silent SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:256641G>C ENST00000360321.2 - 10 1137 c.999C>G c.(997-999)gtC>gtG p.V333V C20orf96_ENST00000382369.5_Silent_p.V298V NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 333 p.V333V(1) endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCTCAAATATGACCTCTCGGG 0.512000 18 80 0 0 0.038395 0 0 ZNF341 84905 broad.mit.edu 37 20 32336848 32336848 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr20:32336848G>A ENST00000375200.1 + 4 824 c.459G>A c.(457-459)caG>caA p.Q153Q ZNF341_ENST00000342427.2_Silent_p.Q153Q NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 153 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q153Q(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCCTGGACCAGCCCATGCCCC 0.572000 4 153 0 0 0.009096 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76569457 76569457 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:76569457G>A ENST00000307431.8 + 19 3153 c.2768G>A c.(2767-2769)aGa>aAa p.R923K CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R851K|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R875K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R927K NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 924 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.R923K(1)|p.R851K(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACGGCCACCAGACAGAGAGGC 0.483000 18 77 0 0 0.043863 0 0 ANO6 196527 broad.mit.edu 37 12 45810576 45810576 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:45810576C>T ENST00000320560.8 + 17 2308 c.2106C>T c.(2104-2106)gaC>gaT p.D702D ANO6_ENST00000441606.2_Silent_p.D684D|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000425752.2_Silent_p.D702D|ANO6_ENST00000435642.1_Silent_p.D702D|ANO6_ENST00000423947.3_Silent_p.D723D NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 702 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity p.D702D(2) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 TAAGAGTGGACGCATGGAAAC 0.483000 14 61 0 0 0.020292 0 0 AHNAK 79026 broad.mit.edu 37 11 62296133 62296133 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:62296133G>A ENST00000378024.4 - 5 6030 c.5756C>T c.(5755-5757)gCc>gTc p.A1919V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1919 nervous system development nucleus protein binding p.A1919V(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GATCTTGGGGGCCTTGAAGTG 0.507000 9 663 0 0 0.058154 0 0 BCAS3 54828 broad.mit.edu 37 17 58952079 58952079 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:58952079C>T ENST00000589222.1 + 9 709 c.641C>T c.(640-642)aCg>aTg p.T214M BCAS3_ENST00000408905.3_Missense_Mutation_p.T214M|BCAS3_ENST00000390652.5_Missense_Mutation_p.T214M|BCAS3_ENST00000588462.1_Missense_Mutation_p.T214M|BCAS3_ENST00000407086.3_Missense_Mutation_p.T214M Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 214 nucleus p.T214M(1) NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) TGTACTTTCACGAAGAAATTC 0.328000 10 51 0 0 0.080935 0 0 IGLV3-27 28791 broad.mit.edu 37 22 23011001 23011001 + RNA SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr22:23011001G>T ENST00000390304.2 + 0 102 GGCCTCCTATGAGCTGACACA 0.557000 77 260 1.00246e-47 1.16262e-47 0.048971 1 0 DNM1 1759 broad.mit.edu 37 9 130984829 130984829 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr9:130984829G>A ENST00000341179.7 + 8 1174 c.1082G>A c.(1081-1083)cGc>cAc p.R361H DNM1_ENST00000475805.1_Missense_Mutation_p.R361H|DNM1_ENST00000486160.1_Missense_Mutation_p.R361H|DNM1_ENST00000372923.3_Missense_Mutation_p.R361H|DNM1_ENST00000393594.3_Missense_Mutation_p.R361H NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 361 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.R361H(2) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 GGGGGAGCCCGCATTAACCGA 0.592000 4 162 0 0 0.014758 0 0 NLRP2 55655 broad.mit.edu 37 19 55493697 55493697 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:55493697C>T ENST00000543010.1 + 6 774 c.631C>T c.(631-633)Ctg>Ttg p.L211L NLRP2_ENST00000448584.2_Silent_p.L211L|NLRP2_ENST00000263437.6_Silent_p.L208L|NLRP2_ENST00000427260.2_Silent_p.L188L|NLRP2_ENST00000339757.7_Silent_p.L189L|NLRP2_ENST00000537859.1_Silent_p.L189L|NLRP2_ENST00000391721.4_Silent_p.L187L|NLRP2_ENST00000538819.1_Silent_p.L187L NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 211 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding p.L211L(1) large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CACGGTGGTGCTGTATGGTCC 0.517000 63 125 0 0 0.048971 0 0 TELO2 9894 broad.mit.edu 37 16 1551483 1551483 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:1551483C>T ENST00000262319.6 + 10 1623 c.1344C>T c.(1342-1344)gaC>gaT p.D448D NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 448 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding p.D448D(1) NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CTGCGGGTGACGGCGCCTCGG 0.692000 11 5 0 0 0.105934 0 0 SLC38A2 54407 broad.mit.edu 37 12 46765071 46765071 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:46765071C>G ENST00000256689.5 - 2 450 c.6G>C c.(4-6)aaG>aaC p.K2N SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 2 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.K2N(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) TTTCGGCCTTCTTCATGCTAA 0.577000 47 136 0 0 0.048971 0 0 AHNAK 79026 broad.mit.edu 37 11 62289475 62289475 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:62289475C>G ENST00000378024.4 - 5 12688 c.12414G>C c.(12412-12414)ctG>ctC p.L4138L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4138 nervous system development nucleus protein binding p.L4138L(1) NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TTGGACCTTTCAGATTCAGGT 0.517000 45 329 0 0 0.045515 0 0 WIF1 11197 broad.mit.edu 37 12 65448985 65448985 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:65448985C>T ENST00000286574.4 - 9 1305 c.931G>A c.(931-933)Gag>Aag p.E311K NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 311 EGF-like 5. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity p.E311K(2) cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CAGCCAGGCTCGCAGACAGCT 0.413000 T HMGA2 pleomorphic salivary gland adenoma 16 89 0 0 0.024245 0 0 GPR98 84059 broad.mit.edu 37 5 89985850 89985850 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr5:89985850A>T ENST00000405460.2 + 30 6759 c.6663A>T c.(6661-6663)gcA>gcT p.A2221A NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2221 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.A2221A(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAACAGAGGCAGTCATTATTA 0.378000 4 12 0 0 0.021553 0 0 ZNF813 126017 broad.mit.edu 37 19 53994369 53994369 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:53994369G>T ENST00000396403.4 + 4 1011 c.883G>T c.(883-885)Gga>Tga p.G295* ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 295 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G295*(1) large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) ACTTCATACTGGAGAGAAACC 0.398000 19 119 1.01871e-10 1.12173e-10 0.049695 1 0 BAGE2 85319 broad.mit.edu 37 21 11039272 11039272 + RNA SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:11039272C>T ENST00000470054.1 - 0 931 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) GTTGCTCTTGCTGCACAGTGA 0.398000 26 589 0 0 0.099896 0 0 ATP8B2 57198 broad.mit.edu 37 1 154321468 154321468 + Silent SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:154321468G>T ENST00000368489.3 + 28 3546 c.3546G>T c.(3544-3546)ctG>ctT p.L1182L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 1168 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.L1182L(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) ACATGCGGCTGAGCTCTCTCG 0.647000 24 101 2.98393e-07 3.17854e-07 0.076483 1 0 ZNF555 148254 broad.mit.edu 37 19 2852822 2852822 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:2852822G>A ENST00000334241.4 + 4 897 c.759G>A c.(757-759)gaG>gaA p.E253E AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.E252E NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E253E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 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) ACACCGGAGAGAAGCCATATA 0.413000 12 64 0 0 0.093190 0 0 EIF2B1 1967 broad.mit.edu 37 12 124109399 124109399 + Nonsense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:124109399C>A ENST00000424014.2 - 7 770 c.562G>T c.(562-564)Gag>Tag p.E188* EIF2B1_ENST00000539951.1_Intron NM_001414.3 NP_001405.1 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa 188 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity p.E188*(1) breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TCTGCTTTCTCCATGATGTAG 0.393000 17 74 4.35082e-09 4.71138e-09 0.055883 1 0 ITSN1 6453 broad.mit.edu 37 21 35255954 35255954 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr21:35255954G>A ENST00000381318.3 + 36 4943 c.4655G>A c.(4654-4656)cGa>cAa p.R1552Q ITSN1_ENST00000399367.3_Missense_Mutation_p.R1547Q|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R1491Q|ITSN1_ENST00000381285.4_Missense_Mutation_p.R1552Q|ITSN1_ENST00000399326.3_3'UTR NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 1552 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity p.R1552Q(1) breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TATACTCTCCGAGCAGAAAGC 0.537000 29 199 0 0 0.037714 0 0 CROCCP2 84809 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 6 22 0 0 0.029380 0 0 DSCAML1 57453 broad.mit.edu 37 11 117321323 117321323 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:117321323G>A ENST00000321322.6 - 20 3831 c.3830C>T c.(3829-3831)cCc>cTc p.P1277L DSCAML1_ENST00000527706.1_Missense_Mutation_p.P1007L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1217 Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.P1277L(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACCCCGTTGGGCTTGGTAGG 0.582000 16 114 0 0 0.024245 0 0 IMP4 92856 broad.mit.edu 37 2 131103630 131103630 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:131103630G>C ENST00000259239.3 + 7 1342 c.634G>C c.(634-636)Gat>Cat p.D212H IMP4_ENST00000409935.1_Missense_Mutation_p.D212H NM_033416.1 NP_219484.1 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) 212 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding p.D212H(1) central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 18 Colorectal(110;0.1) CGTGCCCAAAGATGACAGCCA 0.592000 18 89 0 0 0.038395 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144062382 144062382 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:144062382G>A ENST00000056217.5 + 2 2794 c.2620G>A c.(2620-2622)Ggt>Agt p.G874S NM_005435.3 NP_005426.2 Q12774 ARHG5_HUMAN Rho guanine nucleotide exchange factor (GEF) 5 874 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity p.G874S(1) breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) GAACTCAGGGGGTCATGCCAA 0.612000 74 140 0 0 0.048971 0 0 PHKA1 5255 broad.mit.edu 37 X 71839145 71839145 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:71839145C>T ENST00000373545.3 - 19 2409 c.1971G>A c.(1969-1971)atG>atA p.M657I PHKA1_ENST00000541944.1_Missense_Mutation_p.M657I|PHKA1_ENST00000373539.3_Missense_Mutation_p.M716I|PHKA1_ENST00000339490.3_Missense_Mutation_p.M716I|PHKA1_ENST00000373542.4_Missense_Mutation_p.M716I P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 662 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity p.M716I(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TAGGAAGATACATGTGAACAT 0.388000 10 4 0 0 0.069234 0 0 KCNU1 157855 broad.mit.edu 37 8 36793051 36793051 + Silent SNP A A T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr8:36793051A>T ENST00000399881.3 + 27 3100 c.3063A>T c.(3061-3063)ccA>ccT p.P1021P NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1021 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity p.P1021P(2) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCACCCGGCCAGCCAATGAGT 0.458000 71 103 0 0 0.048971 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50685381 50685381 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr3:50685381C>T ENST00000446044.1 + 13 1649 c.1053C>T c.(1051-1053)atC>atT p.I351I MAPKAPK3_ENST00000357955.2_Silent_p.I351I NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 351 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity p.I351I(1) central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGGTGAAGATCAAGGACCTGA 0.552000 42 147 0 0 0.098360 0 0 POP1 10940 broad.mit.edu 37 8 99168597 99168597 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr8:99168597G>A ENST00000401707.2 + 15 2458 c.2377G>A c.(2377-2379)Gaa>Aaa p.E793K POP1_ENST00000349693.3_Missense_Mutation_p.E793K NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 793 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity p.E793K(1) autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GGAGGCCAGTGAAAACCATGT 0.512000 35 216 0 0 0.069456 0 0 RCSD1 92241 broad.mit.edu 37 1 167666699 167666699 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:167666699G>A ENST00000367854.3 + 6 1169 c.838G>A c.(838-840)Gag>Aag p.E280K RCSD1_ENST00000537350.1_Missense_Mutation_p.E250K NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 280 RCSD. p.E280K(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) GGCCCAAGAGGAGGTCCCGGA 0.612000 10 69 0 0 0.069234 0 0 DNAJB11 51726 broad.mit.edu 37 3 186299223 186299223 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr3:186299223G>C ENST00000439351.1 + 6 1449 c.520G>C c.(520-522)Gag>Cag p.E174Q DNAJB11_ENST00000265028.3_Missense_Mutation_p.E174Q Q9UBS4 DJB11_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 11 174 protein folding endoplasmic reticulum lumen heat shock protein binding p.E174Q(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2) 15 all_cancers(143;2.84e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.44e-20) GBM - Glioblastoma multiforme(93;0.0476) TTGTCGGCAAGAGATGCGGAC 0.517000 31 139 0 0 0.069456 0 0 ZNF285 26974 broad.mit.edu 37 19 44891096 44891096 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:44891096G>A ENST00000330997.4 - 4 1375 c.1311C>T c.(1309-1311)ttC>ttT p.F437F ZNF285_ENST00000591679.1_Silent_p.F444F|ZNF285_ENST00000544719.2_Silent_p.F437F|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 p.F437F(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TACATTGGCTGAAGCCCTTTC 0.473000 21 109 0 0 0.055883 0 0 PPP6R3 55291 broad.mit.edu 37 11 68331848 68331848 + Missense_Mutation SNP C C A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:68331848C>A ENST00000393799.2 + 9 1190 c.923C>A c.(922-924)gCc>gAc p.A308D PPP6R3_ENST00000393800.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.A308D|PPP6R3_ENST00000524845.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000393801.3_Missense_Mutation_p.A308D|PPP6R3_ENST00000527403.2_Missense_Mutation_p.A308D|PPP6R3_ENST00000265637.4_Missense_Mutation_p.A308D|PPP6R3_ENST00000529710.1_Missense_Mutation_p.A308D|PPP6R3_ENST00000524904.1_Missense_Mutation_p.A308D Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 308 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding p.A308D(2) breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GTTCTAGAAGCCATCAGAGGA 0.458000 9 240 1.08611e-07 1.16326e-07 0.080935 1 0 USP43 124739 broad.mit.edu 37 17 9631804 9631804 + Nonsense_Mutation SNP G G T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr17:9631804G>T ENST00000285199.7 + 15 2965 c.2869G>T c.(2869-2871)Gag>Tag p.E957* USP43_ENST00000570475.1_Nonsense_Mutation_p.E952*|USP43_ENST00000570827.2_3'UTR NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.E958*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GAACTGGAAGGAGAGCTTCCA 0.552000 12 28 9.05144e-12 1.008e-11 0.105934 1 0 SPAG17 200162 broad.mit.edu 37 1 118628687 118628687 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:118628687C>G ENST00000336338.5 - 13 1685 c.1620G>C c.(1618-1620)aaG>aaC p.K540N NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 540 cilium|flagellar axoneme|microtubule p.K540N(1) NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GATCAAAATTCTTTTGGTCCT 0.423000 27 60 0 0 0.034045 0 0 OR5B21 219968 broad.mit.edu 37 11 58275356 58275356 + Missense_Mutation SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr11:58275356C>T ENST00000360374.2 - 1 222 c.223G>A c.(223-225)Gta>Ata p.V75I NM_001005218.1 NP_001005218.1 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, member 21 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V75I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) TTGGGGGCTACAGCTGATGAG 0.512000 15 71 0 0 0.024245 0 0 KCNH1 3756 broad.mit.edu 37 1 211276926 211276926 + Silent SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:211276926C>G ENST00000367007.4 - 3 391 c.222G>C c.(220-222)ctG>ctC p.L74L KCNH1_ENST00000271751.4_Silent_p.L74L NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 74 PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity p.L74L(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CTTTATCAGTCAGCTCCCCAT 0.328000 17 72 0 0 0.033300 0 0 SLMAP 7871 broad.mit.edu 37 3 57827025 57827025 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr3:57827025G>A ENST00000383718.3 + 3 444 c.e3-1 SLMAP_ENST00000449503.2_Splice_Site|SLMAP_ENST00000416870.1_Splice_Site|SLMAP_ENST00000295952.3_Splice_Site|SLMAP_ENST00000295951.3_Splice_Site|SLMAP_ENST00000428312.1_Splice_Site Q14BN4 SLMAP_HUMAN sarcolemma associated protein muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding p.?(1) endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) GTTTCAACCAGTTACCCATGG 0.318000 51 20 0 0 0.048971 0 0 GTF3C3 9330 broad.mit.edu 37 2 197650253 197650253 + Nonsense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr2:197650253G>C ENST00000263956.3 - 7 1042 c.953C>G c.(952-954)tCa>tGa p.S318* GTF3C3_ENST00000470386.1_5'UTR|GTF3C3_ENST00000409364.3_Nonsense_Mutation_p.S318* NM_012086.4 NP_036218.1 Q9Y5Q9 TF3C3_HUMAN general transcription factor IIIC, polypeptide 3, 102kDa 318 transcription factor TFIIIC complex DNA binding|protein binding p.S318*(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 CTGGTGTTTTGAGAAAGCTTC 0.343000 11 48 0 0 0.080935 0 0 DACH1 1602 broad.mit.edu 37 13 72049858 72049858 + Missense_Mutation SNP T T A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr13:72049858T>A ENST00000305425.4 - 9 2422 c.2000A>T c.(1999-2001)gAt>gTt p.D667V DACH1_ENST00000354591.4_Missense_Mutation_p.D465V|DACH1_ENST00000359684.2_Missense_Mutation_p.D719V|DACH1_ENST00000313174.7_Missense_Mutation_p.D519V NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 717 DACHbox-C.|Interaction with SIN3A (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding p.D667V(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CCTGAGACTATCTGTTGAAGC 0.393000 106 80 0 0 0.048971 0 0 FAT4 79633 broad.mit.edu 37 4 126336800 126336800 + Missense_Mutation SNP A A C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr4:126336800A>C ENST00000394329.3 + 5 6695 c.6682A>C c.(6682-6684)Act>Cct p.T2228P FAT4_ENST00000335110.5_Missense_Mutation_p.T526P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2228 Cadherin 21. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.T2228P(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTACCATTTAACTGTTCAGGC 0.438000 25 121 0 0 0.099896 0 0 MCPH1 79648 broad.mit.edu 37 8 6357451 6357451 + Splice_Site SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr8:6357451G>A ENST00000344683.5 + 12 2290 c.e12+1 ANGPT2_ENST00000415216.1_3'UTR|ANGPT2_ENST00000325203.5_3'UTR NM_024596.3 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 1 microtubule organizing center p.?(1) AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) TGCAGCTCCCGTAAGTCAGAT 0.428000 15 50 0 0 0.020292 0 0 DYRK4 8798 broad.mit.edu 37 12 4708904 4708904 + Missense_Mutation SNP C C G TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr12:4708904C>G ENST00000540757.2 + 8 891 c.731C>G c.(730-732)gCc>gGc p.A244G DYRK4_ENST00000543431.1_Missense_Mutation_p.A244G|DYRK4_ENST00000010132.5_Missense_Mutation_p.A244G NM_001282285.1|NM_001282286.1|NM_003845.1 NP_001269214.1|NP_001269215.1|NP_003836.1 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 244 Protein kinase. Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A646G(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) AAGGGCCAAGCCTCTGTTAAA 0.428000 18 80 0 0 0.038395 0 0 ZNF644 84146 broad.mit.edu 37 1 91406112 91406112 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:91406112G>C ENST00000370440.1 - 3 1016 c.799C>G c.(799-801)Caa>Gaa p.Q267E ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.Q267E Q9H582 ZN644_HUMAN zinc finger protein 644 267 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q267E(1) breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) ATAAGAAATTGAATGAACTCT 0.348000 30 122 0 0 0.034045 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167231 140167231 + Silent SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr5:140167231G>A ENST00000504120.2 + 1 1356 c.1356G>A c.(1354-1356)gcG>gcA p.A452A PCDHA1_ENST00000394633.3_Silent_p.A452A|PCDHA1_ENST00000378133.3_Silent_p.A452A NM_018900.2 NP_061723.1 p.A452A(2) breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGACAACGCGCCTGCGTTCG 0.682000 40 147 0 0 0.104719 0 0 TYW1B 441250 broad.mit.edu 37 7 72093896 72093896 + RNA SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr7:72093896C>T ENST00000343721.5 - 0 776 TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity AGTCAGGATTCCCCAGGGACA 0.537000 3 26 0 0 0.004672 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 62 0 0 0.004672 0 0 TACC2 10579 broad.mit.edu 37 10 123843281 123843281 + Silent SNP C C T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr10:123843281C>T ENST00000369005.1 + 4 1606 c.1266C>T c.(1264-1266)ctC>ctT p.L422L TACC2_ENST00000453444.2_Silent_p.L422L|TACC2_ENST00000515603.1_Silent_p.L422L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Silent_p.L422L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.L422L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 422 microtubule organizing center|nucleus nuclear hormone receptor binding p.L422L(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTCAAGCCTCGCTTCATTCC 0.557000 42 109 0 0 0.048971 0 0 HIST2H2BF 440689 broad.mit.edu 37 1 149783666 149783666 + Missense_Mutation SNP G G C TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:149783666G>C ENST00000427880.2 - 1 259 c.213C>G c.(211-213)ttC>ttG p.F71L HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.F71L|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.F71L Q5QNW6 H2B2F_HUMAN histone cluster 2, H2bf 71 nucleosome assembly nucleosome|nucleus DNA binding p.F71L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Breast(34;0.0124)|all_hematologic(923;0.127) CGATGCGCTCGAAGATGTCGT 0.627000 41 262 0 0 0.048971 0 0 C2orf68 388969 broad.mit.edu 37 2 85838764 85838764 + Frame_Shift_Del DEL G G - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr2:85838764delG ENST00000409734.3 - 2 300 c.253delC c.(253-255)cagfs p.Q85fs C2orf68_ENST00000478626.1_Intron|USP39_ENST00000459775.1_Intron|C2orf68_ENST00000306336.5_Intron Q2NKX9 CB068_HUMAN chromosome 2 open reading frame 68 0 breast(1)|central_nervous_system(1)|endometrium(1) 3 CGCGCGGGCTGGAGGCAGGCG 0.662 2 4 --- --- --- --- SPATA31A1 647060 broad.mit.edu 37 9 39361282 39361283 + Frame_Shift_Ins INS - - T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr9:39361282_39361283insT ENST00000377647.3 + 4 3549_3550 c.3520_3521insT c.(3520-3522)attfs p.I1174fs NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 TTTTCAGTGGATTTTTTCAAAG 0.446 32 19 --- --- --- --- RP11-24M17.5 0 broad.mit.edu 37 15 76072941 76072941 + RNA DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr15:76072941delC ENST00000395215.3 + 0 365 ATCTCGGCCTCCCCCTAGTAA 0.537 72 71 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67911712 67911712 + Frame_Shift_Del DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr16:67911712delC ENST00000358933.5 + 7 1097 c.858delC c.(856-858)atcfs p.I286fs EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 286 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) TTAGCCAGATCAAGCAGGGCT 0.582 55 86 --- --- --- --- ROCK1P1 727758 broad.mit.edu 37 18 112402 112405 + RNA DEL AACC AACC - rs113232824 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:112402_112405delAACC ENST00000608049.1 + 0 389 NR_033770.1 CCCTGCCCCGAACCACCCGACCCC 0.711 5 10 --- --- --- --- PHLPP1 23239 broad.mit.edu 37 18 60562283 60562283 + Frame_Shift_Del DEL T T - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd e34479b8-834f-4747-984b-e77272f1379d g.chr18:60562283delT ENST00000400316.4 + 5 2351 c.570delT c.(568-570)catfs p.H190fs PHLPP1_ENST00000262719.5_Frame_Shift_Del_p.H702fs NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 702 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CCAATAATCATTTAGGGGACT 0.438 18 28 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187272852 187272859 + RNA DEL CTTCCTTC CTTCCTTC - rs71695338 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr1:187272852_187272859delCTTCCTTC ENST00000458683.1 + 0 179 tctttcctttcttccttccttccttcct 0.346 7 12 --- --- --- --- SPATA31A1 647060 broad.mit.edu 37 9 39361282 39361283 + Frame_Shift_Ins INS - - T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr9:39361282_39361283insT ENST00000377647.3 + 4 3549_3550 c.3520_3521insT c.(3520-3522)attfs p.I1174fs NM_001085452.1 NP_001078921.1 SPATA31 subfamily A, member 1 TTTTCAGTGGATTTTTTCAAAG 0.446 32 19 --- --- --- --- SPATA31A2 642265 broad.mit.edu 37 9 39890533 39890534 + Frame_Shift_Ins INS - - T TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr9:39890533_39890534insT ENST00000456183.2 + 4 3549_3550 c.3520_3521insT c.(3520-3522)attfs p.I1174fs NM_001040065.1 NP_001035154.1 SPATA31 subfamily A, member 2 TTTTCAGTGGATTTTTTCAAAG 0.446 6 3 --- --- --- --- RP11-24M17.5 0 broad.mit.edu 37 15 76072941 76072941 + RNA DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr15:76072941delC ENST00000395215.3 + 0 365 ATCTCGGCCTCCCCCTAGTAA 0.537 72 71 --- --- --- --- EDC4 23644 broad.mit.edu 37 16 67911712 67911712 + Frame_Shift_Del DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr16:67911712delC ENST00000358933.5 + 7 1097 c.858delC c.(856-858)atcfs p.I286fs EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 286 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) TTAGCCAGATCAAGCAGGGCT 0.582 55 86 --- --- --- --- PHLPP1 23239 broad.mit.edu 37 18 60562283 60562283 + Frame_Shift_Del DEL T T - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr18:60562283delT ENST00000400316.4 + 5 2351 c.570delT c.(568-570)catfs p.H190fs PHLPP1_ENST00000262719.5_Frame_Shift_Del_p.H702fs NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 702 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 CCAATAATCATTTAGGGGACT 0.438 18 28 --- --- --- --- CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chr19:1037646delC ENST00000263097.4 + 7 1040 c.677delC c.(676-678)accfs p.T226fs CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs NM_004368.2 NP_004359.1 Q99439 CNN2_HUMAN calponin 2 226 actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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) GCTCCCGGGACCCGGCGGCAC 0.632 7 412 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-11A-13D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0c7aca3f-e006-4de3-afc2-20b4f727d4fd 7f26857a-3586-4bce-aa3b-97cc3a407c14 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 3 6 --- --- --- ---