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 CCT2 10576 broad.mit.edu 37 12 69993770 69993770 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:69993770C>T ENST00000543146.2 + 15 1904 c.1422C>T c.(1420-1422)atC>atT p.I474I CCT2_ENST00000299300.6_Silent_p.I521I|CCT2_ENST00000544368.2_Intron NM_001198842.1 NP_001185771.1 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 (beta) 521 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1) 24 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ACAACATCATCAAAGCGGCAC 0.398000 8 19 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50278720 50278720 + Silent SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:50278720C>A ENST00000442544.2 + 2 1004 c.388C>A c.(388-390)Cgg>Agg p.R130R DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 130 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AATTATTAGTCGGACAGCAAA 0.423000 11 36 0.00010058 0.000105258 1 1 0 PCLO 27445 broad.mit.edu 37 7 82581589 82581589 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:82581589C>G ENST00000423517.2 - 5 9017 c.8680G>C c.(8680-8682)Gat>Cat p.D2894H PCLO_ENST00000333891.8_Missense_Mutation_p.D2894H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2825 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACTTCCCCATCAGTGATTCCC 0.443000 18 44 0 0 1 0 0 PSMC3 5702 broad.mit.edu 37 11 47446705 47446705 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:47446705C>G ENST00000298852.3 - 3 409 c.252G>C c.(250-252)aaG>aaC p.K84N PSMC3_ENST00000602866.1_Missense_Mutation_p.K68N|PSMC3_ENST00000530912.1_Intron NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 84 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACGGCAGGGTCTTGTTCACTT 0.512000 10 48 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70961694 70961694 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:70961694C>G ENST00000322954.6 - 16 1514 c.1329G>C c.(1327-1329)aaG>aaC p.K443N UACA_ENST00000560441.1_Missense_Mutation_p.K428N|UACA_ENST00000379983.2_Missense_Mutation_p.K430N|UACA_ENST00000539319.1_Missense_Mutation_p.K334N NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 443 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 CTAACTCTTTCTTTAAAATTT 0.413000 14 41 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197390563 197390563 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:197390563G>A ENST00000367400.3 + 6 1740 c.1605G>A c.(1603-1605)ctG>ctA p.L535L CRB1_ENST00000538660.1_Silent_p.L535L|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.L423L|CRB1_ENST00000543483.1_Silent_p.L234L|CRB1_ENST00000535699.1_Silent_p.L466L|CRB1_ENST00000544212.1_Silent_p.L16L|CRB1_ENST00000476483.1_3'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 535 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TTGTGAAGCTGGAGCTGCTAA 0.458000 16 43 0 0 1 0 0 OR5M3 219482 broad.mit.edu 37 11 56237827 56237827 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:56237827G>C ENST00000312240.2 - 1 187 c.147C>G c.(145-147)gtC>gtG p.V49V NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GCTGAGGACTGACCTTGATTA 0.438000 13 51 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124998092 124998092 + Splice_Site SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:124998092C>A ENST00000360647.4 - 6 945 c.e6-1 ZNF148_ENST00000484491.1_Splice_Site|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Splice_Site|ZNF148_ENST00000497929.1_Splice_Site|ZNF148_ENST00000492394.1_Splice_Site|ZNF148_ENST00000468369.1_Intron NM_021964.2 NP_068799.2 Q9UQR1 ZN148_HUMAN zinc finger protein 148 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TTGTAAGGATCTAGTTCAAAA 0.308000 4 25 3.59834e-05 3.80503e-05 1 1 0 ZNF248 57209 broad.mit.edu 37 10 38121522 38121522 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:38121522C>T ENST00000395867.3 - 6 1311 c.761G>A c.(760-762)aGt>aAt p.S254N ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.S254N|ZNF248_ENST00000494133.1_Intron NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 254 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CAGCTTTAAACTTTCAATGAA 0.383000 6 25 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131925848 131925848 + Silent SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:131925848A>G ENST00000359827.3 - 5 2543 c.1581T>C c.(1579-1581)tgT>tgC p.C527C PLXNA4_ENST00000321063.4_Silent_p.C527C Q9HCM2 PLXA4_HUMAN plexin A4 527 PSI 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CACACCAGCCACAGTGGGGGT 0.592000 8 15 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75248853 75248853 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:75248853C>A ENST00000325680.7 + 4 2231 c.2107C>A c.(2107-2109)Cct>Act p.P703T YLPM1_ENST00000238571.3_Missense_Mutation_p.P508T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P703T NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 508 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TTCAAAAGCTCCTTTGAGCAA 0.488000 13 47 0.0931896 0.0943544 1 1 0 SOCS3 9021 broad.mit.edu 37 17 76354722 76354722 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:76354722G>A ENST00000330871.2 - 2 870 c.455C>T c.(454-456)tCt>tTt p.S152F NM_003955.3 NP_003946.3 O14543 SOCS3_HUMAN suppressor of cytokine signaling 3 152 anti-apoptosis|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) TGGCTGGGCAGACGGCTGCTC 0.662000 11 25 0 0 1 0 0 LRRC71 149499 broad.mit.edu 37 1 156901815 156901815 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:156901815C>T ENST00000337428.7 + 13 1591 c.1437C>T c.(1435-1437)ctC>ctT p.L479L LRRC71_ENST00000490146.1_3'UTR NM_144702.2 NP_653303.2 Q8N4P6 LRC71_HUMAN leucine rich repeat containing 71 479 endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1) 12 ACCTCAACCTCATCCGTATGT 0.577000 4 6 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89180146 89180146 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:89180146C>T ENST00000286614.6 - 4 742 c.461G>A c.(460-462)cGt>cAt p.R154H MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 154 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ATCAAAGGCACGGCGAATAGC 0.368000 4 18 0 0 1 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70523745 70523745 + Missense_Mutation SNP A A C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:70523745A>C ENST00000538820.1 + 7 909 c.569A>C c.(568-570)cAt>cCt p.H190P ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.H208P|ITGB1BP2_ENST00000465388.1_3'UTR Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 208 CHORD 2.|Cys-rich. muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) GTCGGTAGACATGACTGGGGG 0.502000 10 15 0 0 1 0 0 FAM175A 84142 broad.mit.edu 37 4 84391361 84391361 + Missense_Mutation SNP T T G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:84391361T>G ENST00000321945.7 - 5 579 c.471A>C c.(469-471)caA>caC p.Q157H FAM175A_ENST00000506553.1_Missense_Mutation_p.Q108H|FAM175A_ENST00000505489.1_5'UTR NM_139076.2 NP_620775.2 Q6UWZ7 F175A_HUMAN family with sequence similarity 175, member A 157 chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 13 TTTACCCTTTTTGAGGTTTAT 0.318000 7 29 0 0 1 0 0 CSAD 51380 broad.mit.edu 37 12 53554913 53554913 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:53554913C>G ENST00000267085.4 - 12 1196 c.963G>C c.(961-963)caG>caC p.Q321H CSAD_ENST00000379846.1_Missense_Mutation_p.Q147H|CSAD_ENST00000379843.3_Missense_Mutation_p.Q147H|CSAD_ENST00000444623.1_Missense_Mutation_p.Q294H|CSAD_ENST00000453446.2_Missense_Mutation_p.Q294H NM_001244706.1|NM_015989.4 NP_001231635.1|NP_057073.4 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 294 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4) 14 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GTATGCACCTCTGGATCCCAT 0.577000 5 15 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28250520 28250520 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:28250520G>A ENST00000305242.5 - 10 1455 c.1363C>T c.(1363-1365)Cag>Tag p.Q455* ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q312*|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000537576.1_Nonsense_Mutation_p.Q147*|ARMC4_ENST00000480504.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 455 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 ACCAGCTTCTGAATTTGCCAA 0.388000 7 18 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110507164 110507164 + Translation_Start_Site SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:110507164T>C ENST00000324068.1 - 2 168 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 1 microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 GGAGGACCCATAGTGTTGAAC 0.408000 41 52 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55360337 55360337 + Silent SNP C C T rs139857215 byFrequency TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:55360337C>T ENST00000290552.7 + 2 1467 c.135C>T c.(133-135)ccC>ccT p.P45P RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 45 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 CCCCAGCGCCCGCTCTCTGCT 0.637000 10 35 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121461593 121461593 + Missense_Mutation SNP G G C rs2282647 by1000genomes TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:121461593G>C ENST00000527934.1 + 1 466 c.45G>C c.(43-45)tgG>tgC p.W15C SORL1_ENST00000260197.7_Intron|SORL1_ENST00000532694.1_Intron|SORL1_ENST00000525532.1_Intron|SORL1_ENST00000534286.1_Intron Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1216 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCAGTCACTGGCCTCCCTCAG 0.463000 OREG0021431 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 69 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74957842 74957842 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:74957842G>C ENST00000262144.6 - 9 841 c.711C>G c.(709-711)gtC>gtG p.V237V NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 237 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 TGGCCTTCCAGACAGGCACCT 0.463000 4 9 0 0 1 0 0 MCF2L2 23101 broad.mit.edu 37 3 183059382 183059382 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:183059382G>A ENST00000328913.3 - 4 609 c.312C>T c.(310-312)atC>atT p.I104I MCF2L2_ENST00000447025.2_Silent_p.I104I|MCF2L2_ENST00000473233.1_Silent_p.I104I|MCF2L2_ENST00000414362.2_Silent_p.I104I NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 104 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TTCGTCTGTCGATAACAACAA 0.423000 8 23 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24737595 24737595 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:24737595C>T ENST00000399409.3 - 10 1521 c.1038G>A c.(1036-1038)acG>acA p.T346T RABGGTA_ENST00000216840.6_Silent_p.T346T|RABGGTA_ENST00000560777.1_Intron NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 346 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GCTCGTCTGTCGTGGAGTCCC 0.622000 13 53 0 0 1 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370343 118370343 + Missense_Mutation SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:118370343T>C ENST00000217971.7 + 1 128 c.17T>C c.(16-18)gTg>gCg p.V6A PGRMC1_ENST00000535419.1_Missense_Mutation_p.V6A NM_006667.3 NP_006658.1 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 6 cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 GCCGAGGATGTGGTGGCGACT 0.637000 18 29 0 0 1 0 0 XKR3 150165 broad.mit.edu 37 22 17264575 17264575 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:17264575C>A ENST00000331428.5 - 4 1416 c.1314G>T c.(1312-1314)agG>agT p.R438S NM_175878.3 NP_787074.2 Q5GH77 XKR3_HUMAN XK, Kell blood group complex subunit-related family, member 3 438 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GACAGTAATTCCTCAGCTGCT 0.348000 6 4 3.59834e-05 3.80503e-05 1 1 0 SPAG8 26206 broad.mit.edu 37 9 35810898 35810898 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:35810898C>T ENST00000340291.2 - 3 1145 c.1021G>A c.(1021-1023)Gtc>Atc p.V341I SPAG8_ENST00000484764.1_Missense_Mutation_p.V339I|SPAG8_ENST00000396638.2_Missense_Mutation_p.V341I|SPAG8_ENST00000479751.1_5'UTR NM_172312.1 NP_758516.1 Q99932 SPAG8_HUMAN sperm associated antigen 8 341 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) GGCCAATAGACGTTTCCTGGT 0.542000 13 63 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41276075 41276075 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:41276075G>A ENST00000361937.3 - 34 4546 c.4122C>T c.(4120-4122)gaC>gaT p.D1374D INO80_ENST00000401393.3_Silent_p.D1374D Q9ULG1 INO80_HUMAN INO80 complex subunit 1374 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGCTGCTCTCGTCCAGGGGAA 0.572000 8 39 0 0 1 0 0 LRRC73 221424 broad.mit.edu 37 6 43475269 43475269 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:43475269C>T ENST00000372441.1 - 5 1705 c.805G>A c.(805-807)Gac>Aac p.D269N NM_001012974.1 NP_001012992.1 Q5JTD7 CF154_HUMAN leucine rich repeat containing 73 269 TCCTGGGTGTCGCCAGCCCCT 0.617000 10 34 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851824 43851824 + Silent SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:43851824A>G ENST00000372769.3 + 2 1641 c.1551A>G c.(1549-1551)caA>caG p.Q517Q NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 517 Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) ATCAAGATCAATGGTCTGGCC 0.403000 11 24 0 0 1 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800238 32800238 + Missense_Mutation SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:32800238T>A ENST00000329421.7 - 2 893 c.548A>T c.(547-549)gAg>gTg p.E183V NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 183 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) AGGGCCACTCTCCGGCCCCGA 0.617000 17 42 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73042146 73042146 + RNA SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:73042146G>C ENST00000604411.1 + 0 30107 XIST_ENST00000429829.1_lincRNA NR_003255.2 GTAGTGGCCAGAGTGGTAGAA 0.413000 6 12 0 0 1 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31487352 31487352 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:31487352G>A ENST00000394863.3 + 8 864 c.734G>A c.(733-735)cGc>cAc p.R245H TGFB1I1_ENST00000567607.1_Missense_Mutation_p.R228H|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.R228H|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.R228H NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 245 LIM zinc-binding 1. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 GCTCTGGGCCGCGCCTGGCAC 0.652000 12 60 0 0 1 0 0 DNAJB5 25822 broad.mit.edu 37 9 34996641 34996641 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:34996641C>G ENST00000541010.1 + 2 3603 c.591C>G c.(589-591)ctC>ctG p.L197L DNAJB5_ENST00000545841.1_Silent_p.L197L|DNAJB5_ENST00000312316.5_Silent_p.L197L|DNAJB5_ENST00000335998.3_Silent_p.L231L|DNAJB5_ENST00000453597.3_Silent_p.L311L|DNAJB5_ENST00000454002.2_Silent_p.L269L O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 197 protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) GGCGTCGCCTCAACCCTGATG 0.592000 7 40 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79611333 79611333 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:79611333G>A ENST00000261205.4 + 4 691 c.34G>A c.(34-36)Gcc>Acc p.A12T SYT1_ENST00000457153.2_Missense_Mutation_p.A12T|SYT1_ENST00000393240.3_Missense_Mutation_p.A12T|SYT1_ENST00000552744.1_Missense_Mutation_p.A12T NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 12 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GGCCCTGGCAGCCCCGCCTGT 0.532000 6 20 0 0 1 0 0 TYMS 7298 broad.mit.edu 37 18 670729 670729 + Silent SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:670729C>A ENST00000323274.10 + 5 733 c.594C>A c.(592-594)ctC>ctA p.L198L TYMS_ENST00000323224.7_Silent_p.L164L|TYMS_ENST00000323250.5_Silent_p.L115L|TYMS_ENST00000581920.1_3'UTR NM_001071.2 NP_001062.1 P04818 TYSY_HUMAN thymidylate synthetase 198 DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus cytosol thymidylate synthase activity p.L198L(1) endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2) 8 Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432) GCCATGCCCTCTGCCAGTTCT 0.557000 21 64 2.89027e-11 3.18953e-11 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65270397 65270397 + RNA SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:65270397G>T ENST00000534336.1 + 0 5165 NR_002819.2 ATGAATTGATGAGAAATACAA 0.289000 2 1 0.0016 0.00166581 1 1 0 GLRA4 441509 broad.mit.edu 37 X 102978844 102978844 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:102978844G>A ENST00000372617.4 - 5 937 c.517C>T c.(517-519)Ctg>Ttg p.L173L NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 173 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 AGGTCCATCAGGCAGGACAAA 0.527000 36 29 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47225314 47225314 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:47225314G>C ENST00000391910.3 - 16 2492 c.2042C>G c.(2041-2043)tCc>tGc p.S681C STRN4_ENST00000539396.1_Missense_Mutation_p.S555C|STRN4_ENST00000263280.6_Missense_Mutation_p.S674C Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 674 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) TGCAACCATGGAGTGCACCGG 0.617000 11 36 0 0 1 0 0 HNRNPL 3191 broad.mit.edu 37 19 39329240 39329240 + Splice_Site SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:39329240T>C ENST00000221419.5 - 10 1722 c.e10-2 AC104534.3_ENST00000594769.1_Splice_Site|HNRNPL_ENST00000600873.1_Splice_Site NM_001533.2 NP_001524.2 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) TTGGAGACACTGCAGCAAGGA 0.542000 6 12 0 0 1 0 0 ANO9 338440 broad.mit.edu 37 11 433424 433424 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:433424G>C ENST00000332826.6 - 4 324 c.240C>G c.(238-240)atC>atG p.I80M NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 80 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 TGTCAGCACGGATCCCAAAGA 0.642000 23 53 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 76975852 76975852 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:76975852G>A ENST00000409911.1 - 3 1968 c.1745C>T c.(1744-1746)cCg>cTg p.P582L LRRTM4_ENST00000409093.1_Missense_Mutation_p.P581L|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P581L NM_001134745.1 NP_001128217.1 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 581 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GTAGATGGCCGGTGCTGCCGA 0.592000 31 70 0 0 1 0 0 ZPBP2 124626 broad.mit.edu 37 17 38027760 38027760 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:38027760G>C ENST00000377940.3 + 3 361 c.222G>C c.(220-222)gtG>gtC p.V74V ZPBP2_ENST00000348931.4_Silent_p.V96V|ZPBP2_ENST00000584588.1_Silent_p.V96V NM_198844.2 NP_942141.2 Q6X784 ZPBP2_HUMAN zona pellucida binding protein 2 96 binding of sperm to zona pellucida extracellular region kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Colorectal(19;0.000442) Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171) AGCTGATGGTGAAAGATTTTT 0.284000 9 26 0 0 1 0 0 MYNN 55892 broad.mit.edu 37 3 169496746 169496746 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:169496746C>G ENST00000349841.5 + 3 1120 c.457C>G c.(457-459)Cga>Gga p.R153G MYNN_ENST00000392733.1_Missense_Mutation_p.R153G|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.R153G|MYNN_ENST00000356716.4_Missense_Mutation_p.R153G NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin 153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) TTATAATAATCGAGAGAAATC 0.343000 7 16 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816280 82816280 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:82816280G>C ENST00000265077.3 + 7 2720 c.2155G>C c.(2155-2157)Gaa>Caa p.E719Q VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E671Q|VCAN_ENST00000342785.4_Missense_Mutation_p.E719Q|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 719 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AACAGAAGAAGAAGTCTTCTC 0.363000 8 14 0 0 1 0 0 DSPP 1834 broad.mit.edu 37 4 88534203 88534203 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:88534203G>C ENST00000399271.1 + 4 985 c.865G>C c.(865-867)Gat>Cat p.D289H RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.D289H NM_014208.3 NP_055023.2 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein 289 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent p.D289Y(2) breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TGGGAAAGAAGATGATCATGA 0.428000 14 23 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168107253 168107253 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:168107253C>T ENST00000409195.1 + 9 9440 c.9351C>T c.(9349-9351)cgC>cgT p.R3117R XIRP2_ENST00000409273.1_Silent_p.R2895R|XIRP2_ENST00000295237.9_Silent_p.R3117R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2942 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAAAACACGCCCACCGTCAC 0.428000 15 45 0 0 1 0 0 SMAD3 4088 broad.mit.edu 37 15 67358682 67358682 + Missense_Mutation SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:67358682T>A ENST00000327367.4 + 1 500 c.190T>A c.(190-192)Tgc>Agc p.C64S NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 64 MH1. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CAACACCAAGTGCATCACCAT 0.682000 8 10 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23451169 23451169 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:23451169G>A ENST00000262713.2 - 1 682 c.307C>T c.(307-309)Cag>Tag p.Q103* AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q103*|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 103 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GGCAACGACTGAGGTAGAGGC 0.706000 4 14 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498655 118498655 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:118498655C>T ENST00000361417.2 + 7 1527 c.1116C>T c.(1114-1116)ctC>ctT p.L372L PHLDB1_ENST00000356063.5_Silent_p.L372L NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 372 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTGGTGCTCTCAGTCAACCCA 0.637000 20 50 0 0 1 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749559 22749559 + RNA SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:22749559C>T ENST00000390298.2 + 0 117 CAGGAGCCCTCACTGACTGTG 0.507000 6 29 0 0 1 0 0 PTBP2 58155 broad.mit.edu 37 1 97278423 97278423 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:97278423G>A ENST00000236228.6 + 12 1409 c.1327G>A c.(1327-1329)Gga>Aga p.G443R PTBP2_ENST00000370197.1_Missense_Mutation_p.G448R|PTBP2_ENST00000426398.2_Missense_Mutation_p.G443R|PTBP2_ENST00000370198.1_Missense_Mutation_p.G448R|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000394184.3_Missense_Mutation_p.G459R NM_021190.2 NP_067013.1 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 443 nucleotide binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1) 26 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TAAGAAACCTGGATCCAAAAA 0.378000 7 16 0 0 1 0 0 EPHX4 253152 broad.mit.edu 37 1 92515905 92515905 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:92515905G>A ENST00000370383.4 + 5 734 c.636G>A c.(634-636)ttG>ttA p.L212L NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 212 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 CTCAGCTGTTGAAATCCAGTT 0.318000 4 25 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93151411 93151411 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:93151411G>A ENST00000216487.7 + 9 2706 c.2547G>A c.(2545-2547)ctG>ctA p.L849L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 849 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCCGGCAGCTGAGTGTGGAGG 0.637000 19 61 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021630 58021630 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:58021630C>T ENST00000341156.4 - 10 1739 c.1155G>A c.(1153-1155)gcG>gcA p.A385A B4GALNT1_ENST00000418555.2_Silent_p.A330A NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 385 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.A385A(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCTCGCGCACCGCGCCCCCCA 0.711000 3 8 0 0 1 0 0 C11orf1 64776 broad.mit.edu 37 11 111754583 111754583 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:111754583G>A ENST00000260276.3 + 4 769 c.432G>A c.(430-432)atG>atA p.M144I C11orf1_ENST00000530214.1_Silent_p.*122*|C11orf1_ENST00000529270.1_Missense_Mutation_p.M184I|C11orf1_ENST00000528125.1_Missense_Mutation_p.M98I NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 144 nucleus kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) CAACTTACATGAATAGCTATT 0.398000 10 30 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64415949 64415949 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:64415949C>G ENST00000262043.3 + 12 3738 c.3398C>G c.(3397-3399)tCt>tGt p.S1133C PHF3_ENST00000393387.1_Missense_Mutation_p.S1133C Q92576 PHF3_HUMAN PHD finger protein 3 1133 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) GATGATCTTTCTCCAAAAAAA 0.353000 9 10 0 0 1 0 0 FANCD2OS 115795 broad.mit.edu 37 3 10146360 10146360 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:10146360G>C ENST00000450660.2 - 2 315 c.99C>G c.(97-99)ttC>ttG p.F33L FANCD2OS_ENST00000524279.1_Missense_Mutation_p.F33L NM_001164839.1 NP_001158311.1 FANCD2 opposite strand GGGAGGCCTTGAATGGGTGCT 0.562000 18 59 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350536 100350536 + RNA SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:100350536C>T ENST00000542585.1 + 0 2956 ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGACTACCATCTCCACAGAAA 0.507000 25 74 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301870 139301870 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:139301870G>A ENST00000298537.7 - 4 688 c.477C>T c.(475-477)acC>acT p.T159T SDCCAG3_ENST00000371725.3_Silent_p.T109T|SDCCAG3_ENST00000357365.3_Silent_p.T182T NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 182 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) CACTCCATCCGGTGTCCTCAT 0.622000 7 20 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12262600 12262600 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:12262600C>T ENST00000256194.4 + 18 2516 c.2228C>T c.(2227-2229)tCa>tTa p.S743L MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.S743L|MICAL2_ENST00000527546.1_Intron NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 743 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) CGCCGTGTCTCAGGGATAGGT 0.582000 19 69 0 0 1 0 0 CHD8 57680 broad.mit.edu 37 14 21867787 21867787 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:21867787G>A ENST00000399982.2 - 25 4959 c.4895C>T c.(4894-4896)tCg>tTg p.S1632L CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000557364.1_Missense_Mutation_p.S1632L|CHD8_ENST00000430710.3_Missense_Mutation_p.S1353L NM_001170629.1 NP_001164100.1 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 1632 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding p.S1632L(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 85 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) AATGAGCAGCGACTTGTCAGC 0.438000 12 37 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24790551 24790551 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:24790551C>T ENST00000003912.3 + 12 1431 c.716C>T c.(715-717)aCg>aTg p.T239M NIPAL3_ENST00000339255.2_Missense_Mutation_p.T321M|NIPAL3_ENST00000374399.4_Missense_Mutation_p.T321M Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 321 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 TTCTTAATCACGCGTAACAGG 0.488000 4 12 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52606036 52606036 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:52606036G>A ENST00000399231.3 - 41 5668 c.5425C>T c.(5425-5427)Cga>Tga p.R1809* MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1807*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1782*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1834*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1806* NM_000259.3 NP_000250.3 Q9Y4I1 MYO5A_HUMAN myosin VA (heavy chain 12, myoxin) 1809 Dilute. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) TTCCTGTCTCGTAAACGCATC 0.393000 15 30 0 0 1 0 0 RNASE4 6038 broad.mit.edu 37 14 21167607 21167607 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:21167607C>G ENST00000555835.1 + 2 753 c.77C>G c.(76-78)tCc>tGc p.S26C RNASE4_ENST00000397995.2_Missense_Mutation_p.S26C|RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000555597.1_Missense_Mutation_p.S26C|RNASE4_ENST00000304704.4_Missense_Mutation_p.S26C|AL163636.6_ENST00000553909.1_RNA NM_002937.3 NP_002928.1 P34096 RNAS4_HUMAN ribonuclease, RNase A family, 4 26 mRNA cleavage extracellular region nucleic acid binding|pancreatic ribonuclease activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_cancers(95;0.00304) Epithelial(56;5.13e-07)|all cancers(55;4.73e-06) GBM - Glioblastoma multiforme(265;0.0133) GTCCAGCCCTCCTATGGCCAG 0.557000 76 81 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58652626 58652626 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:58652626G>A ENST00000405755.2 - 1 175 c.47C>T c.(46-48)tCt>tTt p.S16F PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000360047.5_Intron|PDE4D_ENST00000546160.1_Intron NM_001197219.1 NP_001184148.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 0 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) GGCTCTTGTAGATGGTCCTGG 0.478000 3 12 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103260425 103260425 + Missense_Mutation SNP A A C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:103260425A>C ENST00000553106.1 - 5 930 c.458T>G c.(457-459)gTg>gGg p.V153G PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Missense_Mutation_p.V148G NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 153 catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) TGCACGGTACACAGGATCTTT 0.468000 6 37 0 0 1 0 0 F2R 2149 broad.mit.edu 37 5 76028613 76028613 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:76028613C>T ENST00000319211.4 + 2 828 c.563C>T c.(562-564)gCc>gTc p.A188V NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 188 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AACATGTACGCCTCTATCTTG 0.493000 48 90 0 0 1 0 0 DTNA 1837 broad.mit.edu 37 18 32386188 32386188 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:32386188G>T ENST00000283365.9 + 6 719 c.368G>T c.(367-369)gGc>gTc p.G123V DTNA_ENST00000444659.1_Missense_Mutation_p.G123V|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.G123V|DTNA_ENST00000598334.1_Missense_Mutation_p.G123V|DTNA_ENST00000269191.6_Missense_Mutation_p.G123V|DTNA_ENST00000399113.3_Missense_Mutation_p.G123V|DTNA_ENST00000595022.1_Missense_Mutation_p.G123V|DTNA_ENST00000269190.7_Missense_Mutation_p.G123V|DTNA_ENST00000596745.1_Missense_Mutation_p.G123V|DTNA_ENST00000598774.1_Missense_Mutation_p.G123V|DTNA_ENST00000598142.1_Missense_Mutation_p.G123V|DTNA_ENST00000315456.6_Missense_Mutation_p.G123V|DTNA_ENST00000399121.5_Missense_Mutation_p.G123V|DTNA_ENST00000597599.1_Missense_Mutation_p.G123V|DTNA_ENST00000348997.5_Missense_Mutation_p.G123V NM_032975.3 NP_116757.2 Q9Y4J8 DTNA_HUMAN dystrobrevin, alpha 123 Interaction with MAGEE1 (By similarity). neuromuscular synaptic transmission|signal transduction|striated muscle contraction cell junction|cytoplasm|synapse calcium ion binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 29 AACAGGGAAGGCCATGGTAAA 0.338000 4 15 0.150653 0.151401 1 1 0 TSHB 7252 broad.mit.edu 37 1 115576668 115576668 + Nonsense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:115576668C>A ENST00000256592.1 + 3 305 c.237C>A c.(235-237)taC>taA p.Y79* TSHB_ENST00000369517.1_Nonsense_Mutation_p.Y79* NM_000549.3|NM_001277991.1 NP_000540.2|NP_001264920.1 P01222 TSHB_HUMAN thyroid stimulating hormone, beta 79 anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|G-protein coupled receptor protein signaling pathway|hormone biosynthetic process|peptide hormone processing extracellular region hormone activity breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 Lung SC(450;0.211) all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) ACTTCATCTACAGGACTGTAG 0.423000 31 51 1.55811e-20 1.76267e-20 1 1 0 SSTR1 6751 broad.mit.edu 37 14 38679099 38679099 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:38679099C>T ENST00000267377.2 + 3 1122 c.505C>T c.(505-507)Cgc>Tgc p.R169C NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 169 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GGCCCGCTACCGCCGGCCCAC 0.637000 18 94 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58133998 58133998 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:58133998G>A ENST00000357272.4 + 35 5959 c.5794G>A c.(5794-5796)Gag>Aag p.E1932K FLNB_ENST00000348383.5_Missense_Mutation_p.E1932K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1752K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1932K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1739K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1963K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1921K|FLNB_ENST00000358537.3_Missense_Mutation_p.E1908K O75369 FLNB_HUMAN filamin B, beta 1932 Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGACATCAGTGAGACTGACCT 0.587000 9 16 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95484948 95484948 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:95484948C>G ENST00000356884.6 - 3 663 c.596G>C c.(595-597)aGa>aCa p.R199T BICD2_ENST00000375512.3_Missense_Mutation_p.R199T NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 199 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CTGGTTCTGTCTGAGCACAGA 0.577000 17 18 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10415996 10415996 + Splice_Site SNP A A T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:10415996A>T ENST00000226207.5 - 11 1103 c.e11+1 CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 TGTATAACTTACATCTGTAGC 0.393000 17 72 0 0 1 0 0 HPS6 79803 broad.mit.edu 37 10 103827017 103827017 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:103827017G>A ENST00000299238.5 + 1 1871 c.1786G>A c.(1786-1788)Ggg>Agg p.G596R NM_024747.5 NP_079023.2 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome 6 596 cytosol|early endosome membrane|endoplasmic reticulum|microsome endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1) 11 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GCCGGGCTGGGGGGCAGGGGG 0.677000 Hermansky-Pudlak syndrome 11 29 0 0 1 0 0 QSOX2 169714 broad.mit.edu 37 9 139108558 139108558 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:139108558C>T ENST00000358701.5 - 9 1134 c.1097G>A c.(1096-1098)gGa>gAa p.G366E NM_181701.3 NP_859052.3 Q6ZRP7 QSOX2_HUMAN quiescin Q6 sulfhydryl oxidase 2 366 cell redox homeostasis extracellular region|integral to membrane|nuclear membrane|plasma membrane thiol oxidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(178;0.0511) Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07) TGGCGGCCGTCCAGGGAACAG 0.647000 12 53 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102738058 102738058 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:102738058G>A ENST00000210633.3 + 5 520 c.442G>A c.(442-444)Gag>Aag p.E148K SEMA4G_ENST00000517724.1_Missense_Mutation_p.E148K|SEMA4G_ENST00000370250.4_Missense_Mutation_p.E148K|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 148 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CTAGGATGCTGAGGCCTTCAC 0.562000 6 15 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 30075261 30075261 + Missense_Mutation SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:30075261A>G ENST00000431530.3 + 13 3914 c.3856A>G c.(3856-3858)Aag>Gag p.K1286E MTUS2_ENST00000542829.1_Missense_Mutation_p.K165E|MTUS2_ENST00000400542.3_3'UTR|MTUS2_ENST00000380808.2_Missense_Mutation_p.K255E NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 1276 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CCTAGAAGAAAAGATCCAGGT 0.463000 5 27 0 0 1 0 0 EIF2S2 8894 broad.mit.edu 37 20 32677565 32677565 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:32677565G>A ENST00000374980.2 - 9 1194 c.973C>T c.(973-975)Cga>Tga p.R325* NM_003908.3 NP_003899.2 P20042 IF2B_HUMAN eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa 325 cytosol|eukaryotic translation initiation factor 2 complex metal ion binding|protein binding|translation initiation factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 11 AGCTGTGCTCGCTTGCCCGTG 0.478000 9 29 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28228044 28228044 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:28228044G>A ENST00000343684.3 + 1 947 c.895G>A c.(895-897)Gct>Act p.A299T NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 299 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 GTATGGCCATGCTTTGCTTCC 0.453000 13 44 0 0 1 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30695463 30695463 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:30695463C>T ENST00000215790.7 - 3 551 c.387G>A c.(385-387)gtG>gtA p.V129V RP1-130H16.18_ENST00000447976.1_Silent_p.V3V|TBC1D10A_ENST00000403362.1_Silent_p.V41V|TBC1D10A_ENST00000403477.3_Silent_p.V136V NM_031937.2 NP_114143.1 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 129 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GCTGTAACTTCACCTTGCCTC 0.562000 10 40 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66361138 66361138 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:66361138C>G ENST00000273854.3 - 4 1634 c.1034G>C c.(1033-1035)aGa>aCa p.R345T EPHA5_ENST00000511294.1_Missense_Mutation_p.R345T|EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.R345T NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 345 Cys-rich. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 ATCAGACTCTCTCCTGAAATA 0.473000 TSP Lung(17;0.13) 20 73 0 0 1 0 0 FBXO48 554251 broad.mit.edu 37 2 68691500 68691500 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:68691500C>T ENST00000377957.2 - 4 716 c.309G>A c.(307-309)gtG>gtA p.V103V NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 103 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 TCAGCAGTATCACCTGAAAGA 0.393000 8 30 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784622 32784622 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:32784622G>T ENST00000342743.5 + 2 806 c.441G>T c.(439-441)caG>caT p.Q147H NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 147 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 GAGAATGCCAGAGCCTCGTCC 0.632000 5 30 0.014758 0.0150934 1 1 0 MYCBP2 23077 broad.mit.edu 37 13 77629732 77629732 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:77629732C>G ENST00000407578.2 - 80 13874 c.13608G>C c.(13606-13608)atG>atC p.M4536I MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4498I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M4498I NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 4498 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CATATCTATTCATTGCATAGC 0.343000 3 15 0 0 1 0 0 GDPD4 220032 broad.mit.edu 37 11 76982353 76982353 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:76982353C>G ENST00000315938.4 - 5 543 c.293G>C c.(292-294)gGg>gCg p.G98A GDPD4_ENST00000376217.2_Missense_Mutation_p.G98A NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 98 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 CATTGACAGCCCAGCTACCAG 0.433000 9 40 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57973370 57973370 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:57973370C>T ENST00000564448.1 - 16 1378 c.1318G>A c.(1318-1320)Gag>Aag p.E440K CNGB1_ENST00000251102.8_Missense_Mutation_p.E446K|CNGB1_ENST00000564654.1_5'UTR Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 446 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GCCTCAGGctcctccttggtc 0.617000 5 31 0 0 1 0 0 PPP2R3C 55012 broad.mit.edu 37 14 35579122 35579122 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:35579122G>T ENST00000261475.5 - 4 660 c.307C>A c.(307-309)Ctg>Atg p.L103M PPP2R3C_ENST00000555644.1_Missense_Mutation_p.L103M NM_017917.2 NP_060387.2 Q969Q6 P2R3C_HUMAN protein phosphatase 2, regulatory subunit B'', gamma 103 centrosome|nucleus calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1) 15 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491) GBM - Glioblastoma multiforme(112;0.0803) TGTTTGTCCAGCAAAAACCAT 0.358000 11 63 1.08611e-07 1.17929e-07 1 1 0 MCF2L 23263 broad.mit.edu 37 13 113742891 113742891 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:113742891G>A ENST00000397030.1 + 25 2919 c.2882G>A c.(2881-2883)cGg>cAg p.R961Q MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q|MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 958 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) AGCCAGCACCGGGCGCTGGAG 0.657000 4 14 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6718272 6718272 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:6718272G>C ENST00000245907.6 - 3 511 c.419C>G c.(418-420)aCc>aGc p.T140S NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 140 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) GGAGCCAGGGGTGTAGATGGT 0.652000 8 24 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101605686 101605686 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:101605686G>C ENST00000284395.5 + 33 5435 c.5035G>C c.(5035-5037)Gcg>Ccg p.A1679P RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.A1682P|LRRK1_ENST00000532145.1_3'UTR Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1682 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.A1682T(1)|p.A1694T(1) breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTTCAGCATCGCGGATGAAGA 0.612000 19 73 0 0 1 0 0 TRAV40 28641 broad.mit.edu 37 14 22783229 22783229 + RNA SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:22783229G>A ENST00000390467.3 + 0 195 AGCTTCTTCAGAGAGAGACAA 0.463000 39 40 0 0 1 0 0 GPR156 165829 broad.mit.edu 37 3 119886327 119886327 + Nonsense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:119886327G>C ENST00000464295.1 - 10 2442 c.1997C>G c.(1996-1998)tCa>tGa p.S666* GPR156_ENST00000315843.3_Nonsense_Mutation_p.S666*|GPR156_ENST00000461057.1_Nonsense_Mutation_p.S662* Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 666 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) TTGAGGATCTGAAGGTAGTGA 0.567000 6 40 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110086442 110086442 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:110086442C>T ENST00000527748.1 + 2 1481 c.798C>T c.(796-798)gtC>gtT p.V266V RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 266 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CCACGATGGTCACCAGCTCGG 0.677000 19 59 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75248748 75248748 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:75248748C>G ENST00000325680.7 + 4 2126 c.2002C>G c.(2002-2004)Cca>Gca p.P668A YLPM1_ENST00000238571.3_Missense_Mutation_p.P473A|YLPM1_ENST00000552421.1_Missense_Mutation_p.P668A NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GAAACCTAGACCAGCACTGCT 0.522000 11 47 0 0 1 0 0 TBKBP1 9755 broad.mit.edu 37 17 45776755 45776755 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:45776755C>A ENST00000361722.3 + 5 1553 c.704C>A c.(703-705)gCc>gAc p.A235D NM_014726.2 NP_055541.1 A7MCY6 TBKB1_HUMAN TBK1 binding protein 1 235 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GCTTTGGAGGCCGCGCAGGGA 0.711000 OREG0024498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 10 1 1 1 1 0 SORBS2 8470 broad.mit.edu 37 4 186544294 186544294 + Silent SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:186544294G>T ENST00000431808.1 - 14 2840 c.2277C>A c.(2275-2277)cgC>cgA p.R759R SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.R859R|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.R759R|SORBS2_ENST00000418609.1_Silent_p.R663R|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 759 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CACTGATGAGGCGGTGCAGGA 0.572000 46 132 1.86277e-20 2.10145e-20 1 1 0 KIF16B 55614 broad.mit.edu 37 20 16493547 16493547 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:16493547G>A ENST00000354981.2 - 5 527 c.370C>T c.(370-372)Cgg>Tgg p.R124W KIF16B_ENST00000408042.1_Missense_Mutation_p.R124W|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R124W NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 124 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 TCACAGATCCGAGGTATTAAG 0.458000 4 20 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242283205 242283205 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:242283205G>T ENST00000391973.2 + 9 1263 c.735G>T c.(733-735)ttG>ttT p.L245F SEPT2_ENST00000407971.1_Missense_Mutation_p.L205F|SEPT2_ENST00000401990.1_Missense_Mutation_p.L255F|SEPT2_ENST00000391971.2_Missense_Mutation_p.L245F|SEPT2_ENST00000402092.2_Missense_Mutation_p.L245F|SEPT2_ENST00000360051.3_Missense_Mutation_p.L245F NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 245 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CCAATCAGTTGATTGAAGCCA 0.517000 56 144 3.85841e-42 4.38949e-42 1 1 0 SEMA3G 56920 broad.mit.edu 37 3 52474988 52474988 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:52474988G>A ENST00000231721.2 - 8 889 c.890C>T c.(889-891)cCc>cTc p.P297L NM_020163.1 NP_064548.1 Q9NS98 SEM3G_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G 297 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) ACCAGGGCCGGGCACCGAGCA 0.642000 13 25 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 475148 475148 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:475148G>A ENST00000264938.3 - 16 2360 c.2351C>T c.(2350-2352)tCg>tTg p.S784L SLC9A3_ENST00000514375.1_Missense_Mutation_p.S775L|CTD-2228K2.7_ENST00000607286.1_RNA NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 784 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGCCCTCTGCGAGGGGACCAC 0.672000 6 19 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103359282 103359282 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:103359282C>T ENST00000520539.1 - 6 1031 c.425G>A c.(424-426)gGa>gAa p.G142E UBR5_ENST00000521922.1_Missense_Mutation_p.G142E|UBR5_ENST00000220959.4_Missense_Mutation_p.G142E NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 142 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) ACCAGAGGATCCTCCACCACT 0.488000 36 99 0 0 1 0 0 SPIN4 139886 broad.mit.edu 37 X 62570773 62570773 + Translation_Start_Site SNP A A C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:62570773A>C ENST00000374884.2 - 0 450 SPIN4_ENST00000335144.3_De_novo_Start_OutOfFrame|SPIN4-AS1_ENST00000451979.1_RNA Q56A73 SPIN4_HUMAN spindlin family, member 4 gamete generation endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 11 AACACTATGCAATATGATATA 0.473000 10 10 0 0 1 0 0 SLC5A9 200010 broad.mit.edu 37 1 48705107 48705107 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:48705107G>A ENST00000236495.5 + 13 1700 c.1650G>A c.(1648-1650)ctG>ctA p.L550L SLC5A9_ENST00000438567.2_Silent_p.L525L|SLC5A9_ENST00000533824.1_Silent_p.L546L NM_001135181.1 NP_001128653.1 Q2M3M2 SC5A9_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 9 525 integral to membrane|plasma membrane low-affinity glucose:sodium symporter activity breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1) 26 CAGCAGTGCTGAAGGACTTCC 0.582000 24 96 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110917743 110917743 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:110917743G>A ENST00000316534.4 - 11 1285 c.1212C>T c.(1210-1212)ctC>ctT p.L404L NPHP1_ENST00000393272.3_Silent_p.L403L|NPHP1_ENST00000417665.1_Silent_p.L347L|NPHP1_ENST00000355301.4_Silent_p.L285L|NPHP1_ENST00000445609.2_Silent_p.L348L O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 403 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CATGTCTGCTGAGAACCTGTA 0.373000 16 28 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 22 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196661404 196661404 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:196661404C>T ENST00000312428.6 - 56 10511 c.10411G>A c.(10411-10413)Gct>Act p.A3471T NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3471 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.A3471P(1) NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCTTCATAGCAATGGGCCCT 0.413000 6 12 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2192726 2192726 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:2192726C>T ENST00000382203.1 + 34 4969 c.4760C>T c.(4759-4761)aCg>aTg p.T1587M SMARCA2_ENST00000302401.3_Missense_Mutation_p.T275M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.T1569M|SMARCA2_ENST00000324954.5_Missense_Mutation_p.T233M|SMARCA2_ENST00000382186.1_Missense_Mutation_p.T251M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.T1569M|SMARCA2_ENST00000382185.1_Missense_Mutation_p.T233M|SMARCA2_ENST00000349721.2_Missense_Mutation_p.T1587M P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1587 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GGAAGTGGGACGGATGATGAG 0.373000 8 31 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77425448 77425448 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:77425448C>G ENST00000560626.2 - 6 4451 c.3976G>C c.(3976-3978)Gac>Cac p.D1326H PEAK1_ENST00000312493.4_Missense_Mutation_p.D1326H Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1326 Protein kinase. cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding AGCCTGAAGTCTGACCAGCTG 0.453000 7 45 0 0 1 0 0 ICAM3 3385 broad.mit.edu 37 19 10444650 10444650 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:10444650G>A ENST00000589261.1 - 7 1828 c.1296C>T c.(1294-1296)gtC>gtT p.V432V ICAM3_ENST00000160262.5_Silent_p.V509V P32942 ICAM3_HUMAN intercellular adhesion molecule 3 509 Ig-like C2-type 5. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) GCTCCCTGAAGACGTACATTA 0.572000 18 58 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016760 1016760 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:1016760G>T ENST00000421673.2 - 31 6091 c.6041C>A c.(6040-6042)aCc>aAc p.T2014N NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2014 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACCAAGGAGGTGGAGAAAGG 0.537000 30 633 3.1745e-13 3.55158e-13 1 1 0 CDC42BPG 55561 broad.mit.edu 37 11 64602360 64602360 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:64602360C>T ENST00000342711.5 - 18 2135 c.2136G>A c.(2134-2136)ttG>ttA p.L712L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 712 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CTACGTTCCTCAAGGACTCCA 0.627000 14 35 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306243 2306243 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:2306243C>T ENST00000290974.2 - 8 2163 c.1824G>A c.(1822-1824)gaG>gaA p.E608E RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.E578E|ZFYVE28_ENST00000515312.1_Silent_p.E538E NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 608 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCTCCTGTCTCTCAGGGGCCC 0.672000 7 41 0 0 1 0 0 ABLIM3 22885 broad.mit.edu 37 5 148577791 148577791 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:148577791G>A ENST00000506113.1 + 3 643 c.161G>A c.(160-162)tGt>tAt p.C54Y ABLIM3_ENST00000508983.1_Missense_Mutation_p.C54Y|ABLIM3_ENST00000326685.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000309868.7_Missense_Mutation_p.C54Y|ABLIM3_ENST00000504238.1_Missense_Mutation_p.C54Y|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Missense_Mutation_p.C54Y O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 54 LIM zinc-binding 1. axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATGTGGCTGTGGCCTGGCC 0.577000 28 52 0 0 1 0 0 SENP5 205564 broad.mit.edu 37 3 196650417 196650417 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:196650417G>A ENST00000323460.5 + 7 2266 c.2017G>A c.(2017-2019)Gta>Ata p.V673I SENP5_ENST00000445299.2_Intron|SENP5_ENST00000419026.1_Missense_Mutation_p.V163I NM_152699.4 NP_689912.2 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 673 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1) 32 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) TAAGTTTTGTGTAGAGGTAAG 0.343000 8 25 0 0 1 0 0 C5orf54 63920 broad.mit.edu 37 5 159821580 159821580 + Silent SNP T T G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:159821580T>G ENST00000408953.3 - 2 1425 c.918A>C c.(916-918)ccA>ccC p.P306P C5orf54_ENST00000523213.1_Silent_p.P306P NM_022090.3 NP_071373.2 Q8IZ13 CE054_HUMAN chromosome 5 open reading frame 54 306 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 12 ggcgatgatttggagctctcc 0.413000 11 43 0 0 1 0 0 TTC27 55622 broad.mit.edu 37 2 32865416 32865416 + Missense_Mutation SNP T T G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:32865416T>G ENST00000317907.4 + 4 707 c.476T>G c.(475-477)aTa>aGa p.I159R NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 159 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TCGAAGCCTATACTACTGTTA 0.403000 10 25 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1214006 1214006 + Splice_Site SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:1214006A>G ENST00000358378.6 + 2 991 c.e2-1 mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) TTCCTCTTACAGGATCCACCA 0.532000 9 15 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49299706 49299706 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:49299706C>A ENST00000402551.1 - 11 1619 c.999G>T c.(997-999)caG>caT p.Q333H BCAT2_ENST00000598162.1_Missense_Mutation_p.Q373H|BCAT2_ENST00000545387.2_Missense_Mutation_p.Q281H|BCAT2_ENST00000599246.1_Missense_Mutation_p.Q281H|BCAT2_ENST00000316273.6_Missense_Mutation_p.Q373H|BCAT2_ENST00000597011.1_Missense_Mutation_p.Q333H O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 373 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) TCAGCTCCTTCTGGAAGCGGA 0.597000 24 62 7.92952e-12 8.77447e-12 1 1 0 DUOX1 53905 broad.mit.edu 37 15 45439714 45439714 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:45439714G>A ENST00000321429.4 + 20 2813 c.2406G>A c.(2404-2406)ctG>ctA p.L802L DUOX1_ENST00000561166.1_Silent_p.L448L|DUOX1_ENST00000389037.3_Silent_p.L802L NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 802 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CCTGTGAGCTGAGCAGGGCCG 0.622000 7 10 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78897295 78897295 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:78897295C>T ENST00000306801.3 + 23 2992 c.2630C>T c.(2629-2631)tCc>tTc p.S877F RPTOR_ENST00000544334.2_Missense_Mutation_p.S719F|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 877 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GGCAGGGGCTCCCCTCCGGCG 0.632000 8 24 0 0 1 0 0 LPP 4026 broad.mit.edu 37 3 188590551 188590551 + Splice_Site SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:188590551G>A ENST00000312675.4 + 10 1956 c.1710_splice c.e10+1 p.E570_splice LPP_ENST00000543006.1_Splice_Site_p.E570_splice NM_001167672.1|NM_005578.3 NP_001161144.1|NP_005569.1 Q93052 LPP_HUMAN LIM domain containing preferred translocation partner in lipoma 570 LIM zinc-binding 3. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) ACCGATGCGAGGTCTGGTTGA 0.532000 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" 11 24 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3186340 3186340 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:3186340G>T ENST00000251607.6 + 5 656 c.554G>T c.(553-555)gGa>gTa p.G185V TRNT1_ENST00000280591.6_Missense_Mutation_p.G185V NM_182916.2 NP_886552.2 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 185 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) AGATTTGTTGGACATGCTAAA 0.254000 13 23 7.03913e-09 7.70499e-09 1 1 0 AZIN1 51582 broad.mit.edu 37 8 103851015 103851015 + Nonsense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:103851015C>A ENST00000337198.5 - 5 1569 c.406G>T c.(406-408)Gaa>Taa p.E136* AZIN1_ENST00000347770.4_Nonsense_Mutation_p.E136*|AZIN1_ENST00000522311.1_5'UTR NM_148174.2 NP_680479.1 O14977 AZIN1_HUMAN antizyme inhibitor 1 136 polyamine biosynthetic process|regulation of cellular amino acid metabolic process cytosol catalytic activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1) 9 Lung NSC(17;0.000143)|all_lung(17;0.000294) OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414) AATTCAATTTCATTGTCACAT 0.338000 3 8 0.004672 0.00481466 1 1 0 PIK3R5 23533 broad.mit.edu 37 17 8784301 8784301 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:8784301G>T ENST00000447110.1 - 18 2540 c.2416C>A c.(2416-2418)Cag>Aag p.Q806K PIK3R5_ENST00000584803.1_Missense_Mutation_p.Q805K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.Q806K NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 806 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCGATGATCTGCACCTTGTCC 0.572000 12 42 0.00010058 0.000105258 1 1 0 DEDD2 162989 broad.mit.edu 37 19 42713954 42713954 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:42713954G>A ENST00000595337.1 - 4 574 c.487C>T c.(487-489)Cgg>Tgg p.R163W DEDD2_ENST00000598727.1_Missense_Mutation_p.R163W|DEDD2_ENST00000596251.1_Missense_Mutation_p.R163W|DEDD2_ENST00000593804.1_5'UTR|DEDD2_ENST00000336034.4_Missense_Mutation_p.R158W NM_001270614.1 NP_001257543.1 Q8WXF8 DEDD2_HUMAN death effector domain containing 2 163 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity p.R163W(1) endometrium(1)|large_intestine(1)|ovary(1)|prostate(2) 5 Prostate(69;0.0704) CCACTGGGCCGGCCCCGACTC 0.662000 8 65 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324706 31324706 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:31324706G>C ENST00000269197.5 + 12 4894 c.4894G>C c.(4894-4896)Gaa>Caa p.E1632Q NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TAAACAAAAAGAATATCTAGA 0.428000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 15 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694810 60694810 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:60694810G>C ENST00000005286.4 + 2 388 c.235G>C c.(235-237)Gag>Cag p.E79Q TMEM132A_ENST00000453848.2_Missense_Mutation_p.E79Q NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 79 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTCCCGATCTGAGACCTTTCT 0.657000 19 50 0 0 1 0 0 MYO1A 4640 broad.mit.edu 37 12 57437747 57437747 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:57437747C>T ENST00000442789.2 - 11 1072 c.785G>A c.(784-786)cGa>cAa p.R262Q MYO1A_ENST00000544473.1_Missense_Mutation_p.R100Q|MYO1A_ENST00000300119.3_Missense_Mutation_p.R262Q NM_001256041.1 NP_001242970.1 Q9UBC5 MYO1A_HUMAN myosin IA 262 Myosin head-like. sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3) 50 TAGCACTTGTCGAATCTCCTC 0.512000 17 45 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187628110 187628110 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:187628110G>A ENST00000441802.2 - 2 3081 c.2872C>T c.(2872-2874)Cag>Tag p.Q958* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 958 Cadherin 8. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGACCAGACTGACCTAAATCA 0.473000 HNSCC(5;0.00058) 26 67 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41033196 41033196 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:41033196C>T ENST00000399564.4 - 23 2758 c.2308G>A c.(2308-2310)Gag>Aag p.E770K MROH2B_ENST00000506092.2_Missense_Mutation_p.E325K NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CCCTGATCCTCAGCATCTTGG 0.443000 10 23 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101347192 101347192 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:101347192C>T ENST00000344327.3 - 6 2008 c.1584G>A c.(1582-1584)atG>atA p.M528I TRPC6_ENST00000348423.4_Missense_Mutation_p.M412I|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000360497.4_Missense_Mutation_p.M473I NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 528 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAAAATCAAGCATGTTCCACA 0.418000 11 42 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59203765 59203765 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:59203765C>G ENST00000262717.4 + 8 1709 c.1311C>G c.(1309-1311)ttC>ttG p.F437L CDH20_ENST00000536675.2_Missense_Mutation_p.F437L|CDH20_ENST00000538374.1_Missense_Mutation_p.F437L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 437 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAAGATTTTTCTATGTTGACA 0.413000 25 54 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51961614 51961614 + Missense_Mutation SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:51961614T>A ENST00000311234.4 - 7 1274 c.802A>T c.(802-804)Ata>Tta p.I268L INTS6_ENST00000398119.2_Missense_Mutation_p.I255L|INTS6_ENST00000463928.1_Missense_Mutation_p.I268L|INTS6_ENST00000497989.1_Missense_Mutation_p.I90L|INTS6_ENST00000420668.2_3'UTR|INTS6_ENST00000425000.1_5'UTR NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 268 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) CTGACATATATGAGTTTGTGA 0.408000 8 22 0 0 1 0 0 SUZ12P1 440423 broad.mit.edu 37 17 29061819 29061819 + RNA SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:29061819G>T ENST00000582557.1 + 0 739 TTCCATAGCAGATGACAAGTT 0.313000 3 6 0.115264 0.116124 1 1 0 MYOCD 93649 broad.mit.edu 37 17 12647665 12647665 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:12647665C>A ENST00000425538.1 + 8 1083 c.883C>A c.(883-885)Ctg>Atg p.L295M MYOCD_ENST00000343344.4_Missense_Mutation_p.L295M|MYOCD_ENST00000395988.1_Missense_Mutation_p.L199M NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 295 Gln-rich. cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) GCAACAGCAGCTGTTCCTGCA 0.552000 14 26 4.3838e-07 4.72191e-07 1 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91360786 91360786 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:91360786C>T ENST00000261991.3 - 13 1788 c.1615G>A c.(1615-1617)Gga>Aga p.G539R RPS6KA5_ENST00000536315.2_Missense_Mutation_p.G460R|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.G539R NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 539 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TGCACCACTCCAACATCATGC 0.438000 12 70 0 0 1 0 0 RPL12P38 645688 broad.mit.edu 37 17 58511373 58511373 + RNA SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:58511373C>G ENST00000588627.1 - 0 1984 CCACCTCAATCTGGGCCTGTC 0.483000 6 15 0 0 1 0 0 MARCKSL1 65108 broad.mit.edu 37 1 32800239 32800239 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:32800239C>G ENST00000329421.7 - 2 892 c.547G>C c.(547-549)Gag>Cag p.E183Q NM_023009.6 NP_075385.1 P49006 MRP_HUMAN MARCKS-like 1 183 plasma membrane calmodulin binding breast(1)|large_intestine(3)|lung(1)|ovary(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGGCCACTCTCCGGCCCCGAG 0.612000 17 40 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169408 138169408 + Silent SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:138169408A>G ENST00000409968.1 + 14 3103 c.2925A>G c.(2923-2925)ggA>ggG p.G975G THSD7B_ENST00000272643.3_Silent_p.G975G|THSD7B_ENST00000413152.2_Silent_p.G944G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATAAAAATGGAAGACCTGTTG 0.532000 10 31 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7830209 7830209 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:7830209G>C ENST00000356708.7 + 1 118 c.39G>C c.(37-39)tgG>tgC p.W13C ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000541227.1_5'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.W13C NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 13 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 TGTCGGCCTGGACCTTGCAGC 0.672000 5 26 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55218240 55218240 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:55218240G>C ENST00000251091.5 + 4 1202 c.897G>C c.(895-897)ctG>ctC p.L299L SAMD4A_ENST00000392067.3_Silent_p.L387L|SAMD4A_ENST00000554335.1_Silent_p.L387L|SAMD4A_ENST00000357634.3_Silent_p.L386L NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 387 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 AAAATCTCCTGAAGTCTTTGG 0.358000 35 32 0 0 1 0 0 ABCG4 64137 broad.mit.edu 37 11 119025031 119025031 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:119025031C>T ENST00000307417.3 + 4 782 c.418C>T c.(418-420)Cgc>Tgc p.R140C ABCG4_ENST00000449422.2_Missense_Mutation_p.R140C|ABCG4_ENST00000531739.1_Missense_Mutation_p.R140C NM_022169.4 NP_071452.2 Q9H172 ABCG4_HUMAN ATP-binding cassette, sub-family G (WHITE), member 4 140 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GAGGACCTTCCGCAAGATGTC 0.577000 20 46 0 0 1 0 0 TAPBPL 55080 broad.mit.edu 37 12 6566632 6566632 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:6566632C>T ENST00000266556.7 + 4 791 c.626C>T c.(625-627)tCc>tTc p.S209F TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_Missense_Mutation_p.S132F NM_018009.4 NP_060479.3 Q9BX59 TPSNR_HUMAN TAP binding protein-like 209 Ig-like V-type. antigen processing and presentation of endogenous peptide antigen via MHC class I endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 6 TCCTCAGCCTCCTTGGACTGT 0.582000 15 50 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 73016982 73016982 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:73016982G>A ENST00000264839.7 + 23 3419 c.3419G>A c.(3418-3420)cGa>cAa p.R1140Q RIMS1_ENST00000401910.3_Missense_Mutation_p.R611Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R97Q|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1291Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1114Q|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1083Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1083Q|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1291 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTGGAGGAGCGAACAAGACAG 0.383000 3 7 0 0 1 0 0 ZNF573 126231 broad.mit.edu 37 19 38230496 38230496 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:38230496C>T ENST00000339503.4 - 8 1222 c.721G>A c.(721-723)Gag>Aag p.E241K ZNF573_ENST00000392138.1_Missense_Mutation_p.E212K|ZNF573_ENST00000536220.1_Missense_Mutation_p.E211K|ZNF573_ENST00000590414.2_Missense_Mutation_p.E299K|ZNF573_ENST00000357309.3_Missense_Mutation_p.E211K NM_152360.3 NP_689573.3 Q86YE8 ZN573_HUMAN zinc finger protein 573 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TATGGCTTCTCATCAGTATGA 0.408000 16 63 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39224390 39224390 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:39224390G>C ENST00000328867.4 - 18 2218 c.1910C>G c.(1909-1911)tCt>tGt p.S637C CAPN12_ENST00000601953.1_Missense_Mutation_p.S488C NM_144691.3 NP_653292.2 Q6ZSI9 CAN12_HUMAN calpain 12 637 Domain IV.|EF-hand. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) CATGGTTCCAGAGGTGTCCTC 0.597000 8 35 0 0 1 0 0 PHF1 5252 broad.mit.edu 37 6 33380521 33380521 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:33380521G>C ENST00000374516.3 + 4 559 c.288G>C c.(286-288)gaG>gaC p.E96D PHF1_ENST00000374512.3_Missense_Mutation_p.E96D|PHF1_ENST00000459809.1_3'UTR NM_024165.2 NP_077084.1 O43189 PHF1_HUMAN PHD finger protein 1 96 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(999;0.0443) GTCGCTCTGAGACTGTGGTCC 0.582000 13 60 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159092224 159092224 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:159092224G>C ENST00000296530.8 - 2 925 c.304C>G c.(304-306)Ctg>Gtg p.L102V FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L102V|FAM198B_ENST00000585682.1_Missense_Mutation_p.L102V|FAM198B_ENST00000592057.1_Missense_Mutation_p.L102V NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 102 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TTGGGCTGCAGAGTGGACCCA 0.622000 17 70 0 0 1 0 0 SEMA6D 80031 broad.mit.edu 37 15 48058088 48058088 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:48058088G>C ENST00000316364.5 + 14 1889 c.1450G>C c.(1450-1452)Gac>Cac p.D484H SEMA6D_ENST00000558014.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D484H|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D484H|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D484H|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D484H|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D484H NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 484 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GAATGAGGAAGACAAAAAGGT 0.443000 15 25 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862606 14862606 + Silent SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:14862606T>C ENST00000285046.5 + 1 2138 c.2028T>C c.(2026-2028)tcT>tcC p.S676S FGD5_ENST00000543601.1_Silent_p.S435S NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 676 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TGAACGTGTCTTCCTCTAGGT 0.502000 9 32 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31828126 31828126 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:31828126G>T ENST00000354297.4 + 5 587 c.516G>T c.(514-516)agG>agT p.R172S BPIFA1_ENST00000375413.4_Missense_Mutation_p.R172S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.R172S NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 172 innate immune response extracellular region lipid binding AGCAGGAGAGGATCCACCTGG 0.552000 32 118 2.08457e-15 2.34514e-15 1 1 0 PHLDB1 23187 broad.mit.edu 37 11 118498622 118498622 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:118498622C>T ENST00000361417.2 + 7 1494 c.1083C>T c.(1081-1083)atC>atT p.I361I PHLDB1_ENST00000356063.5_Silent_p.I361I NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 361 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTGGCCATCAGCCTGAGTG 0.632000 14 34 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204058534 204058534 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:204058534G>C ENST00000449802.1 + 46 7184 c.6851G>C c.(6850-6852)aGa>aCa p.R2284T NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 2284 BEACH. binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 CACCCTCCAAGATTATCAGCA 0.363000 6 28 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55237392 55237392 + Missense_Mutation SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:55237392A>G ENST00000381298.2 - 17 2587 c.2275T>C c.(2275-2277)Tat>Cat p.Y759H IL6ST_ENST00000381294.3_Missense_Mutation_p.Y698H|IL6ST_ENST00000502326.3_Missense_Mutation_p.Y759H|IL6ST_ENST00000381287.4_3'UTR|CTD-2031P19.5_ENST00000576302.1_RNA|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.Y759H NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 759 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ACGGTAGAATACTGGACAGTG 0.478000 O hepatocellular ca 19 53 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37526544 37526544 + Missense_Mutation SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:37526544A>G ENST00000378621.3 + 4 1207 c.905A>G c.(904-906)tAt>tGt p.Y302C LANCL3_ENST00000378619.3_Missense_Mutation_p.Y302C|TM4SF2_ENST00000465127.1_Intron NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 302 catalytic activity lung(4)|pancreas(1) 5 GGAATTGCCTATCTGTTTGCC 0.423000 12 12 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150730891 150730891 + Nonsense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:150730891G>T ENST00000358849.4 + 2 388 c.295G>T c.(295-297)Gaa>Taa p.E99* ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000356058.4_Nonsense_Mutation_p.E136*|ABCB8_ENST00000477719.1_Nonsense_Mutation_p.E99*|ABCB8_ENST00000297504.6_Nonsense_Mutation_p.E116*|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000477092.1_Nonsense_Mutation_p.E99* NM_007188.3 NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 116 ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTGTGAGGCAGAAGAGGCCCC 0.632000 13 49 2.31682e-05 2.47576e-05 1 1 0 KCNK9 51305 broad.mit.edu 37 8 140631260 140631260 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:140631260C>T ENST00000520439.1 - 2 429 c.366G>A c.(364-366)ctG>ctA p.L122L KCNK9_ENST00000303015.1_Silent_p.L122L Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 122 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) GGAACATGACCAGTGTCAGCG 0.597000 5 33 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 156241659 156241659 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:156241659G>A ENST00000302490.8 + 12 1821 c.950G>A c.(949-951)aGa>aAa p.R317K KCNAB1_ENST00000389634.5_Missense_Mutation_p.R288K|KCNAB1_ENST00000389636.5_Missense_Mutation_p.R306K|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000471742.1_Missense_Mutation_p.R324K|KCNAB1_ENST00000490337.1_Missense_Mutation_p.R335K NM_172159.3 NP_751891.1 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 335 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) GAAGAAGGGAGAAAACAGCAA 0.408000 13 38 0 0 1 0 0 N6AMT2 221143 broad.mit.edu 37 13 21306231 21306231 + Missense_Mutation SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:21306231T>C ENST00000382758.1 - 4 304 c.257A>G c.(256-258)tAc>tGc p.Y86C N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y86C Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 86 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) GAGTTTCTGGTAAACACTAGG 0.378000 9 41 0 0 1 0 0 BTNL9 153579 broad.mit.edu 37 5 180486626 180486626 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:180486626G>A ENST00000327705.9 + 11 1603 c.1372G>A c.(1372-1374)Gga>Aga p.G458R BTNL9_ENST00000376842.3_Missense_Mutation_p.G459R NM_152547.4 NP_689760.2 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 458 B30.2/SPRY. integral to membrane breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1) 19 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTACGAGGCCGGAGAGCTGTC 0.682000 10 37 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88963635 88963635 + Splice_Site SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:88963635C>T ENST00000556564.1 - 9 1049 c.e9-1 PTPN21_ENST00000328736.3_Splice_Site|PTPN21_ENST00000554628.1_Splice_Site NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GTCATGCCACCTAAAGAACAG 0.418000 17 24 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40312144 40312144 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:40312144C>G ENST00000264661.3 - 16 3300 c.2968G>C c.(2968-2970)Gga>Cga p.G990R KCNH4_ENST00000607371.1_Missense_Mutation_p.G990R NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 990 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGAGAGGGTCCCAGAGGGTCA 0.632000 18 39 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2111962 2111962 + Nonsense_Mutation SNP C C T rs45457701 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:2111962C>T ENST00000219476.3 + 12 1840 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q404*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q404*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.Q355*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q415*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q367* NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 404 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) CCACGGGTCTCAGGAGAGATA 0.617000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 13 44 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179566974 179566974 + Splice_Site SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:179566974T>A ENST00000589042.1 - 108 30658 c.e108-2 TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGTAGACACCTAGGGTGAAAA 0.418000 6 19 0 0 1 0 0 DHX32 55760 broad.mit.edu 37 10 127569387 127569387 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:127569387C>T ENST00000284690.3 - 1 497 c.7G>A c.(7-9)Gaa>Aaa p.E3K DHX32_ENST00000284688.6_Missense_Mutation_p.E3K NM_018180.2 NP_060650.2 Q7L7V1 DHX32_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 32 3 mitochondrion|nucleus ATP binding|helicase activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1) 29 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGCCCTTCTTCTTCCATCTTG 0.463000 17 44 0 0 1 0 0 TMEM8B 51754 broad.mit.edu 37 9 35842634 35842634 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:35842634C>T ENST00000377988.2 + 6 1487 c.199C>T c.(199-201)Cgc>Tgc p.R67C TMEM8B_ENST00000377996.1_Missense_Mutation_p.R67C|TMEM8B_ENST00000473947.1_Intron|TMEM8B_ENST00000439587.2_Missense_Mutation_p.R67C|TMEM8B_ENST00000377991.4_Missense_Mutation_p.R67C NM_001042590.2 NP_001036055.1 A6NDV4 TMM8B_HUMAN transmembrane protein 8B 67 cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 7 TCCCCCTGAGCGCCCAGCCGT 0.612000 12 27 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87180046 87180046 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:87180046C>G ENST00000265724.3 - 11 1525 c.1108G>C c.(1108-1110)Gat>Cat p.D370H ABCB1_ENST00000543898.1_Missense_Mutation_p.D306H NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 370 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTACATTATCAATTATCTTG 0.373000 4 10 0 0 1 0 0 ERMP1 79956 broad.mit.edu 37 9 5823980 5823980 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:5823980G>A ENST00000339450.5 - 4 879 c.790C>T c.(790-792)Cag>Tag p.Q264* ERMP1_ENST00000381506.3_Nonsense_Mutation_p.Q40*|ERMP1_ENST00000214893.5_5'UTR NM_024896.2 NP_079172.2 Q7Z2K6 ERMP1_HUMAN endoplasmic reticulum metallopeptidase 1 264 proteolysis endoplasmic reticulum membrane|integral to membrane metal ion binding|metallopeptidase activity endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1) 20 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111) CAGGGGTGCTGAGTAATGAAA 0.393000 5 33 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146818173 146818173 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:146818173G>A ENST00000361727.3 + 6 1373 c.857G>A c.(856-858)cGg>cAg p.R286Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 286 Laminin G-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGCCAGGGGCGGAGCATTAAC 0.527000 HNSCC(39;0.1) 10 31 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008411 184008411 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:184008411C>T ENST00000402825.3 + 15 2076 c.2076C>T c.(2074-2076)ccC>ccT p.P692P ECE2_ENST00000404464.3_Silent_p.P574P|ECE2_ENST00000357474.5_Silent_p.P620P|ECE2_ENST00000359140.4_Silent_p.P545P|EIF2B5_ENST00000444495.1_Intron NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 692 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCGTCTTCCCCGCTGGCATCC 0.627000 20 87 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30748845 30748845 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:30748845C>G ENST00000262518.4 + 34 7869 c.7484C>G c.(7483-7485)tCt>tGt p.S2495C SRCAP_ENST00000344771.4_Missense_Mutation_p.S2337C|SRCAP_ENST00000395059.2_Missense_Mutation_p.S2433C NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2495 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) cctccttgttcttctcctgcc 0.547000 10 20 0 0 1 0 0 C9orf117 286207 broad.mit.edu 37 9 130474932 130474932 + Missense_Mutation SNP C C G rs73600054 by1000genomes TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:130474932C>G ENST00000373293.5 + 1 764 c.29C>G c.(28-30)aCg>aGg p.T10R C9orf117_ENST00000464092.1_3'UTR|C9orf117_ENST00000373295.2_Intron Q5JU67 CI117_HUMAN chromosome 9 open reading frame 117 0 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 ATTTCCTGGACGAGGGTGGGT 0.572000 3 28 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863279 23863279 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:23863279C>T ENST00000405093.3 - 21 2753 c.2683G>A c.(2683-2685)Gcg>Acg p.A895T MYH6_ENST00000356287.3_Missense_Mutation_p.A895T NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 895 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGCCTCACCGCCTGCACTTGG 0.582000 57 39 0 0 1 0 0 CIRBP 1153 broad.mit.edu 37 19 1271989 1271989 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:1271989G>C ENST00000444172.2 + 5 416 c.282G>C c.(280-282)caG>caC p.Q94H CIRBP_ENST00000588230.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586472.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000320936.5_Missense_Mutation_p.Q147H|CIRBP_ENST00000589235.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588030.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000588090.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000591935.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000587896.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000585630.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000586773.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589660.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589686.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000589710.1_Missense_Mutation_p.Q147H|CIRBP_ENST00000413636.2_Missense_Mutation_p.Q113H|CIRBP_ENST00000587323.1_Missense_Mutation_p.Q147H Q14011 CIRBP_HUMAN cold inducible RNA binding protein 147 Gly-rich. mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly nucleoplasm|stress granule mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity endometrium(1)|large_intestine(1)|lung(3) 5 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) GCCGGAGTCAGAGTGGTGGCT 0.612000 19 69 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178506330 178506330 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:178506330G>A ENST00000315475.6 + 5 1203 c.897G>A c.(895-897)ccG>ccA p.P299P NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 299 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) GAGAGAAACCGTATCGATGTA 0.413000 19 58 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527527 16527527 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:16527527G>C ENST00000311331.7 - 6 764 c.673C>G c.(673-675)Caa>Gaa p.Q225E NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCTTGTGTTTGGCATCTGCTG 0.398000 11 33 0 0 1 0 0 PAH 5053 broad.mit.edu 37 12 103260442 103260442 + Splice_Site SNP C C A rs62514907 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:103260442C>A ENST00000553106.1 - 5 914 c.e5-1 PAH_ENST00000551988.1_Intron|PAH_ENST00000307000.2_Splice_Site NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) CTTTAAAACCCTAGGAGAAAA 0.468000 7 37 0.0381472 0.0387209 1 1 0 ZNF202 7753 broad.mit.edu 37 11 123598959 123598959 + Silent SNP C C T rs144471098 byFrequency TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:123598959C>T ENST00000336139.4 - 6 1076 c.714G>A c.(712-714)acG>acA p.T238T ZNF202_ENST00000529691.1_Silent_p.T238T|ZNF202_ENST00000530393.1_Silent_p.T238T O95125 ZN202_HUMAN zinc finger protein 202 238 KRAB. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CATCCTTGAACGTTACCAGTC 0.463000 4 50 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170096157 170096157 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:170096157C>G ENST00000263816.3 - 26 4459 c.4174G>C c.(4174-4176)Gat>Cat p.D1392H NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 1392 EGF-like 6; calcium-binding (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TCACATTCATCTATGTCTTCA 0.438000 16 40 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395530 154395530 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:154395530C>T ENST00000435029.4 + 1 2271 c.2111C>T c.(2110-2112)aCg>aTg p.T704M NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 704 Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGACGTAAAACGGAAGAGGCA 0.463000 13 50 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125592865 125592865 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:125592865C>G ENST00000504087.1 - 4 2604 c.1567G>C c.(1567-1569)Gaa>Caa p.E523Q ANKRD50_ENST00000515641.1_Missense_Mutation_p.E344Q NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 523 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TCCTCTCTTTCTAAGGCTTGT 0.423000 14 53 0 0 1 0 0 LMF2 91289 broad.mit.edu 37 22 50942864 50942864 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:50942864C>G ENST00000216080.5 - 12 1716 c.1548G>C c.(1546-1548)caG>caC p.Q516H LMF2_ENST00000380796.3_Missense_Mutation_p.Q428H|LMF2_ENST00000474879.2_Missense_Mutation_p.Q541H Q9BU23 LMF2_HUMAN lipase maturation factor 2 541 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCACTTGGCTCTGGACAAGGC 0.672000 14 27 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82815925 82815925 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:82815925C>G ENST00000265077.3 + 7 2365 c.1800C>G c.(1798-1800)gtC>gtG p.V600V VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V552V|VCAN_ENST00000342785.4_Silent_p.V600V|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 600 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TGGAGTCAGTCTCAGCATCCA 0.423000 22 48 0 0 1 0 0 EXT2 2132 broad.mit.edu 37 11 44135751 44135751 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:44135751G>A ENST00000395673.3 + 4 798 c.742G>A c.(742-744)Ggc>Agc p.G248S EXT2_ENST00000358681.4_Missense_Mutation_p.G215S|EXT2_ENST00000533608.1_Missense_Mutation_p.G215S|EXT2_ENST00000529186.1_3'UTR|EXT2_ENST00000343631.3_Missense_Mutation_p.G215S NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 215 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 GTTGGCTGGTGGCGGCTTTTC 0.473000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 16 50 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47786901 47786901 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:47786901C>T ENST00000263773.5 - 2 246 c.234G>A c.(232-234)gcG>gcA p.A78A FNBP4_ENST00000534003.1_5'UTR NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 78 p.A78A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 CCTCCTGCACCGCTTCCTGTT 0.378000 39 89 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200969536 200969536 + Missense_Mutation SNP A A T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:200969536A>T ENST00000332129.2 - 11 1983 c.1667T>A c.(1666-1668)gTc>gAc p.V556D KIF21B_ENST00000461742.2_Missense_Mutation_p.V556D|KIF21B_ENST00000422435.2_Missense_Mutation_p.V556D|KIF21B_ENST00000360529.5_Missense_Mutation_p.V556D NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 556 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCGCTGCCTGACCTCCTTCTT 0.687000 63 69 0 0 1 0 0 SDC3 9672 broad.mit.edu 37 1 31349455 31349455 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:31349455C>T ENST00000336798.7 - 1 2132 c.640G>A c.(640-642)Gag>Aag p.E214K SDC3_ENST00000339394.6_Missense_Mutation_p.E272K O75056 SDC3_HUMAN syndecan 3 272 Ser/Thr-rich (mucin-like). integral to membrane cytoskeletal protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649) GTGCTCCTCTCAGGGATGTCA 0.682000 10 19 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66618577 66618577 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:66618577C>T ENST00000319194.5 + 12 2088 c.1827C>T c.(1825-1827)gtC>gtT p.V609V RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.V692V NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 692 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 ACCACTGGGTCGCCAAAAAGA 0.542000 15 42 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40251521 40251521 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:40251521G>C ENST00000302541.6 + 11 2184 c.1842G>C c.(1840-1842)gaG>gaC p.E614D MYRIP_ENST00000539167.1_Missense_Mutation_p.E427D|MYRIP_ENST00000396217.3_Missense_Mutation_p.E525D|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.E614D|MYRIP_ENST00000444716.1_Missense_Mutation_p.E614D NM_015460.2 NP_056275.2 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 614 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CAGAATCTGAGAACCAGAAGG 0.493000 8 19 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170139444 170139444 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:170139444C>G ENST00000263816.3 - 10 1395 c.1110G>C c.(1108-1110)ctG>ctC p.L370L LRP2_ENST00000443831.1_Silent_p.L370L NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 370 EGF-like 2. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACAGTGGCACAGGTGACGGC 0.443000 18 81 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120568 193120568 + Missense_Mutation SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:193120568T>A ENST00000342695.4 - 30 3786 c.3464A>T c.(3463-3465)cAg>cTg p.Q1155L ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Q1136L|ATP13A4_ENST00000400270.2_Missense_Mutation_p.Q171L NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1155 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CAAGTCCCTCTGCCATATCCG 0.468000 5 38 0 0 1 0 0 BCAT2 587 broad.mit.edu 37 19 49299738 49299738 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:49299738C>T ENST00000402551.1 - 11 1587 c.967G>A c.(967-969)Gaa>Aaa p.E323K BCAT2_ENST00000598162.1_Missense_Mutation_p.E363K|BCAT2_ENST00000545387.2_Missense_Mutation_p.E271K|BCAT2_ENST00000599246.1_Missense_Mutation_p.E271K|BCAT2_ENST00000316273.6_Missense_Mutation_p.E363K|BCAT2_ENST00000597011.1_Missense_Mutation_p.E323K O15382 BCAT2_HUMAN branched chain amino-acid transaminase 2, mitochondrial 363 mitochondrial matrix L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 12 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224) L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114) GGCCCATTTTCCATGGTGGGA 0.622000 22 59 0 0 1 0 0 MTHFD2 10797 broad.mit.edu 37 2 74425844 74425844 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:74425844C>T ENST00000394053.2 + 1 156 c.76C>T c.(76-78)Cgc>Tgc p.R26C MTHFD2_ENST00000394050.3_5'UTR|MTHFD2_ENST00000409601.1_Missense_Mutation_p.R26C|MTHFD2_ENST00000264090.4_5'UTR|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.R26C NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 26 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) CCTTCGCCTTCGCCCTTTCCA 0.687000 12 8 0 0 1 0 0 FAM133A 286499 broad.mit.edu 37 X 92964763 92964763 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:92964763C>G ENST00000538690.1 + 5 906 c.345C>G c.(343-345)agC>agG p.S115R FAM133A_ENST00000332647.4_Missense_Mutation_p.S115R|FAM133A_ENST00000322139.4_Missense_Mutation_p.S115R|FAM133A_ENST00000355813.5_Missense_Mutation_p.S115R NM_001171110.1 NP_001164581.1 Q8N9E0 F133A_HUMAN family with sequence similarity 133, member A 115 Lys-rich.|Ser-rich. breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1) 20 ATTCTTCAAGCAGTTCTTCAG 0.363000 4 7 0 0 1 0 0 FHL2 2274 broad.mit.edu 37 2 106015388 106015388 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:106015388C>T ENST00000344213.4 - 1 293 c.166G>A c.(166-168)Gag>Aag p.E56K FHL2_ENST00000322142.8_Intron|FHL2_ENST00000393353.3_5'UTR|FHL2_ENST00000336660.5_Intron|FHL2_ENST00000358129.4_5'UTR|FHL2_ENST00000607522.1_Intron|FHL2_ENST00000408995.1_Intron|FHL2_ENST00000393352.3_Intron|FHL2_ENST00000409177.1_Intron Q14192 FHL2_HUMAN four and a half LIM domains 2 0 LIM zinc-binding 1. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent actin cytoskeleton|focal adhesion|nucleus androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 CTAAGCCCCTCGGCCTCCCTC 0.731000 5 8 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44910975 44910975 + Nonsense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:44910975G>T ENST00000377967.4 + 9 717 c.676G>T c.(676-678)Gaa>Taa p.E226* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E226*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E226*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E226* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 226 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(4) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTCTGCAAAAGAAGCTTATGA 0.284000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 3 7 0.115264 0.116124 1 1 0 SYNRG 11276 broad.mit.edu 37 17 35932001 35932001 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:35932001C>T ENST00000339208.6 - 9 1127 c.987G>A c.(985-987)ggG>ggA p.G329G SYNRG_ENST00000345615.4_Silent_p.G251G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000585472.1_Silent_p.G250G|SYNRG_ENST00000502449.2_Silent_p.G251G|SYNRG_ENST00000346661.4_Silent_p.G329G|SYNRG_ENST00000591288.1_Silent_p.G251G|SYNRG_ENST00000394378.2_Silent_p.G251G NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 329 EH. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CCCTGGGAAGCCCAGATGACA 0.403000 15 42 0 0 1 0 0 KRTAP19-3 337970 broad.mit.edu 37 21 31864135 31864135 + Silent SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr21:31864135G>T ENST00000334063.4 - 1 140 c.141C>A c.(139-141)ggC>ggA p.G47G NM_181609.3 NP_853640.1 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 47 intermediate filament large_intestine(1)|lung(7)|upper_aerodigestive_tract(1) 9 CAAAGCCAGAGCCATATCCGT 0.557000 47 176 8.72198e-27 9.89468e-27 1 1 0 PEG3 5178 broad.mit.edu 37 19 57334959 57334959 + Splice_Site SNP A A C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:57334959A>C ENST00000326441.9 - 5 845 c.e5+1 ZIM2_ENST00000601070.1_Splice_Site_p.S35_splice|PEG3_ENST00000598410.1_Splice_Site_p.S35_splice|ZIM2_ENST00000599935.1_Splice_Site_p.S35_splice|ZIM2_ENST00000221722.5_Splice_Site_p.S35_splice|ZIM2_ENST00000593931.1_Splice_Site_p.S35_splice|PEG3_ENST00000593695.1_Splice_Site|ZIM2_ENST00000593711.1_Splice_Site_p.S35_splice|PEG3_ENST00000423103.2_Splice_Site|ZIM2_ENST00000391708.3_Splice_Site_p.S35_splice NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GGTACTCACCACTGAAAGAAT 0.572000 12 32 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104161543 104161543 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:104161543G>C ENST00000369966.3 + 21 2585 c.2335G>C c.(2335-2337)Gag>Cag p.E779Q NFKB2_ENST00000189444.6_Missense_Mutation_p.E779Q|NFKB2_ENST00000428099.1_Missense_Mutation_p.E779Q NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 779 Death. Missing (in truncated form EB308).|Missing (in truncated form LB40).|Missing (in truncated form p80HT). innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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 Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GCAGAACCTGGAGCAGCTGCT 0.602000 T IGH@ B-NHL 3 18 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158178271 158178271 + Missense_Mutation SNP T T C rs140855571 by1000genomes TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:158178271T>C ENST00000410096.1 - 3 658 c.367A>G c.(367-369)Agt>Ggt p.S123G ERMN_ENST00000535935.1_Missense_Mutation_p.S17G|ERMN_ENST00000397283.2_Missense_Mutation_p.S136G|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.S103G|ERMN_ENST00000409216.1_3'UTR NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 123 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TCCTGGTTACTGCCACTCAGA 0.448000 3 26 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52622709 52622709 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:52622709G>A ENST00000493422.1 - 2 192 c.37C>T c.(37-39)Cgg>Tgg p.R13W NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 13 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) ATTCTGCCCCGTATATTGGAG 0.468000 17 31 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53837488 53837488 + Missense_Mutation SNP G G A rs139829141 byFrequency TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:53837488G>A ENST00000288139.3 + 45 5652 c.5534G>A c.(5533-5535)cGg>cAg p.R1845Q CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1801Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R1825Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.R204Q NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1825 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACTATTTGCCGGGAAGACCCA 0.557000 34 91 0 0 1 0 0 ZACN 353174 broad.mit.edu 37 17 74076447 74076447 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:74076447C>G ENST00000334586.5 + 5 569 c.486C>G c.(484-486)ctC>ctG p.L162L ZACN_ENST00000392503.2_Intron NM_180990.3 NP_851321.2 Q401N2 ZACN_HUMAN zinc activated ligand-gated ion channel 162 response to zinc ion integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity p.L161L(1) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 11 TTGAGCTCCTCCACTTCCCCC 0.642000 17 53 0 0 1 0 0 RNLS 55328 broad.mit.edu 37 10 90342943 90342943 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:90342943G>A ENST00000371947.3 - 1 1344 c.5C>T c.(4-6)gCg>gTg p.A2V RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000437752.1_Missense_Mutation_p.A2V|RNLS_ENST00000331772.4_Missense_Mutation_p.A2V NM_018363.3 NP_060833.1 Q5VYX0 RNLS_HUMAN renalase, FAD-dependent amine oxidase 2 extracellular region oxidoreductase activity breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 7 CAGCACCTGCGCCATGGCGAG 0.672000 OREG0020353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 27 0 0 1 0 0 DIS3 22894 broad.mit.edu 37 13 73345252 73345252 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:73345252G>A ENST00000377767.4 - 12 1737 c.1637C>T c.(1636-1638)tCt>tTt p.S546F DIS3_ENST00000545453.1_Missense_Mutation_p.S384F|DIS3_ENST00000377780.4_Missense_Mutation_p.S516F NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 546 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) ACACAAGTTAGAGCTAAGCAA 0.353000 Multiple Myeloma(4;0.011) 4 10 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62744824 62744824 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:62744824C>G ENST00000377871.3 - 9 1663 c.1397G>C c.(1396-1398)cGa>cCa p.R466P SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R466P|SLC22A6_ENST00000421062.2_Intron NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 466 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GCTGCCCACTCGGGCCATGGT 0.622000 5 23 0 0 1 0 0 UBQLN4 56893 broad.mit.edu 37 1 156021499 156021499 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:156021499C>T ENST00000368309.3 - 2 350 c.258G>A c.(256-258)caG>caA p.Q86Q UBQLN4_ENST00000368307.1_Silent_p.Q86Q|UBQLN4_ENST00000472638.1_5'UTR NM_020131.3 NP_064516.2 Q9NRR5 UBQL4_HUMAN ubiquilin 4 86 Ubiquitin-like. cytosol|endoplasmic reticulum membrane|nucleus identical protein binding NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2) 16 Hepatocellular(266;0.133)|all_neural(408;0.195) GAACTTACTTCTGAGGGGTCT 0.522000 12 26 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112437 57112437 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:57112437C>T ENST00000454682.1 - 3 3158 c.2877G>A c.(2875-2877)ccG>ccA p.P959P NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding p.P959P(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGCCCATTTCGGGGATGGGG 0.657000 T BCL6 NHL 11 31 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103029457 103029457 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:103029457C>G ENST00000306312.3 - 14 1773 c.1512G>C c.(1510-1512)caG>caC p.Q504H SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q504H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q504H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q467H|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q472H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q504H NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 504 regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 GCACTCACCTCTGTGTTCTGT 0.468000 8 27 0 0 1 0 0 IGLV7-43 28776 broad.mit.edu 37 22 22749593 22749593 + RNA SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:22749593C>T ENST00000390298.2 + 0 151 CAGTCACTCTCACCTGTGCTT 0.498000 4 26 0 0 1 0 0 MRPS22 56945 broad.mit.edu 37 3 139067062 139067062 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:139067062G>C ENST00000495075.1 + 5 832 c.400G>C c.(400-402)Gag>Cag p.E134Q MRPS22_ENST00000465056.1_Missense_Mutation_p.E133Q|MRPS22_ENST00000478464.1_Missense_Mutation_p.E93Q|MRPS22_ENST00000310776.4_Missense_Mutation_p.E134Q P82650 RT22_HUMAN mitochondrial ribosomal protein S22 134 mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 12 AGTTCTGGAAGAGCGAGTACC 0.358000 7 20 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57133835 57133835 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:57133835C>T ENST00000328070.6 + 3 1414 c.1180C>T c.(1180-1182)Cgc>Tgc p.R394C NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 394 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R394S(1) endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTTCACGGGGCGCTCGTCCCT 0.627000 15 52 0 0 1 0 0 RASD1 51655 broad.mit.edu 37 17 17399376 17399376 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:17399376G>A ENST00000225688.3 - 1 331 c.120C>T c.(118-120)atC>atT p.I40I RASD1_ENST00000579152.1_Silent_p.I40I NM_001199989.1|NM_016084.4 NP_001186918.1|NP_057168.1 Q9Y272 RASD1_HUMAN RAS, dexamethasone-induced 1 40 G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction nucleus|perinuclear region of cytoplasm|plasma membrane GTP binding|GTPase activity endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 AGCGCGACACGATGGCCGTCT 0.617000 24 48 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17008587 17008587 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:17008587G>A ENST00000443236.1 - 39 5152 c.5121C>T c.(5119-5121)aaC>aaT p.N1707N NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1660 Kazal-like. extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGGTGCTGACGTTGTAGAAGC 0.746000 3 4 0 0 1 0 0 ZBTB5 9925 broad.mit.edu 37 9 37441150 37441150 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:37441150C>G ENST00000307750.4 - 2 1587 c.1399G>C c.(1399-1401)Gag>Cag p.E467Q NM_014872.2 NP_055687.1 O15062 ZBTB5_HUMAN zinc finger and BTB domain containing 5 467 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226) AATGGGTTCTCTACATGGGAG 0.597000 15 14 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211308 38211308 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:38211308C>G ENST00000379705.3 - 11 3523 c.2666G>C c.(2665-2667)cGa>cCa p.R889P TRPC4_ENST00000338947.5_Missense_Mutation_p.R716P|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000447043.1_Missense_Mutation_p.R748P|TRPC4_ENST00000379679.1_Missense_Mutation_p.R716P|TRPC4_ENST00000355779.2_Missense_Mutation_p.R748P|TRPC4_ENST00000379673.2_Missense_Mutation_p.R740P|TRPC4_ENST00000358477.2_Missense_Mutation_p.R805P|TRPC4_ENST00000379681.3_Missense_Mutation_p.R894P Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 889 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGCTAATCCTCGAGATTCCAG 0.468000 12 30 0 0 1 0 0 SDS 10993 broad.mit.edu 37 12 113836333 113836333 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:113836333C>A ENST00000257549.4 - 5 534 c.412G>T c.(412-414)Gac>Tac p.D138Y NM_006843.2 NP_006834.2 P20132 SDHL_HUMAN serine dehydratase 138 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1) 11 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ATGAGGGGGTCATCAAAGGGG 0.547000 14 36 4.7546e-09 5.23265e-09 1 1 0 MYH9 4627 broad.mit.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:36708234C>T ENST00000216181.5 - 14 1818 c.1588G>A c.(1588-1590)Gag>Aag p.E530K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 530 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity p.E530K(1) NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGCACTCCTCGTCCAGCAGG 0.637000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 15 44 0 0 1 0 0 SMG6 23293 broad.mit.edu 37 17 2202460 2202460 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:2202460C>T ENST00000544865.1 - 2 2004 c.1494G>A c.(1492-1494)caG>caA p.Q498Q SMG6_ENST00000263073.5_Silent_p.Q529Q Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 529 Interaction with telomeric DNA. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCACTGGGTACTGTAGAGGGT 0.532000 41 103 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118514626 118514626 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:118514626G>A ENST00000361417.2 + 15 3397 c.2986G>A c.(2986-2988)Gtg>Atg p.V996M PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.V949M|PHLDB1_ENST00000524713.1_Missense_Mutation_p.V139M|PHLDB1_ENST00000527898.1_Missense_Mutation_p.V32M NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 996 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) cCAGCTCAGCGTGGCTACCCT 0.687000 9 26 0 0 1 0 0 BABAM1 29086 broad.mit.edu 37 19 17382437 17382437 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:17382437C>T ENST00000359435.4 + 3 510 c.317C>T c.(316-318)tCa>tTa p.S106L CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000595632.1_Missense_Mutation_p.S106L|BABAM1_ENST00000447614.2_Missense_Mutation_p.S106L|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000598188.1_Missense_Mutation_p.S106L|BABAM1_ENST00000601043.1_Missense_Mutation_p.S106L NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 106 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 GAGGAAATGTCACTGCCAAAG 0.557000 8 12 0 0 1 0 0 SUPT20H 55578 broad.mit.edu 37 13 37602362 37602362 + Silent SNP A A T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:37602362A>T ENST00000360252.4 - 14 1324 c.1077T>A c.(1075-1077)ctT>ctA p.L359L SUPT20H_ENST00000356185.3_Silent_p.L359L|SUPT20H_ENST00000464744.1_Silent_p.L359L|SUPT20H_ENST00000542180.1_Silent_p.L322L|SUPT20H_ENST00000350612.6_Silent_p.L358L|SUPT20H_ENST00000475892.1_Silent_p.L358L NM_001278481.1|NM_001278482.1|NM_017569.3 NP_001265410.1|NP_001265411.1|NP_060039.1 suppressor of Ty 20 homolog (S. cerevisiae) GTGGATCTCCAAGCGACTGCA 0.383000 3 20 0 0 1 0 0 KCNG2 26251 broad.mit.edu 37 18 77623925 77623925 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:77623925C>T ENST00000316249.3 + 1 258 c.258C>T c.(256-258)cgC>cgT p.R86R NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 86 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CGCTTTTGCGCGCAGGGAAGC 0.706000 7 10 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579722 7579722 + Splice_Site SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:7579722C>G ENST00000420246.2 - 3 207 c.e3-1 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L26fs*18(1)|p.P13fs*18(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) TTCAGGAAGTCTGAAAGACAA 0.622000 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) 18 32 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166905425 166905425 + Silent SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:166905425T>C ENST00000423058.2 - 7 1016 c.999A>G c.(997-999)gcA>gcG p.A333A AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A333A|SCN1A_ENST00000303395.4_Silent_p.A333A|SCN1A_ENST00000375405.3_Silent_p.A333A NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 333 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CACATAGTAGTGCATCTAAAA 0.328000 3 11 0 0 1 0 0 CUL7 9820 broad.mit.edu 37 6 43014265 43014265 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:43014265G>C ENST00000535468.1 - 11 2810 c.2724C>G c.(2722-2724)ctC>ctG p.L908L CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Silent_p.L824L NM_001168370.1|NM_014780.4 NP_001161842.1|NP_055595.2 Q14999 CUL7_HUMAN cullin 7 824 DOC. interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) ACAGGTATCTGAGGAACACAT 0.557000 7 26 0 0 1 0 0 TMEM110 375346 broad.mit.edu 37 3 52877740 52877740 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:52877740G>C ENST00000355083.5 - 6 760 c.615C>G c.(613-615)gtC>gtG p.V205V TMEM110-MUSTN1_ENST00000504329.1_Silent_p.V205V NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) CACTGACGTTGACAAAGAAGG 0.502000 19 42 0 0 1 0 0 SMARCA5 8467 broad.mit.edu 37 4 144460010 144460010 + Silent SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:144460010T>C ENST00000283131.3 + 13 2151 c.1689T>C c.(1687-1689)ggT>ggC p.G563G NM_003601.3 NP_003592.3 O60264 SMCA5_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 563 Helicase C-terminal. CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding EWSR1/SMARCA5(2) endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(180;0.158) GTGCTGGTGGTCTTGGCATCA 0.383000 25 51 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118198822 118198822 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:118198822G>A ENST00000425217.1 - 4 947 c.893C>T c.(892-894)aCg>aTg p.T298M KSR2_ENST00000339824.5_Missense_Mutation_p.T327M NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 327 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCACTTGGGCGTGTGGGCCTC 0.652000 21 37 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166180 71166180 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:71166180G>C ENST00000357585.2 + 2 1091 c.722G>C c.(721-723)cGa>cCa p.R241P SSTR2_ENST00000315332.2_Missense_Mutation_p.R241P|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 241 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TCTGGAATCCGAGTGGGCTCC 0.483000 17 82 0 0 1 0 0 ESR1 2099 broad.mit.edu 37 6 152265497 152265497 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:152265497G>T ENST00000440973.1 + 6 1320 c.950G>T c.(949-951)aGt>aTt p.S317I ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000206249.3_Missense_Mutation_p.S317I|ESR1_ENST00000544394.1_Missense_Mutation_p.S144I|ESR1_ENST00000456483.2_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.S317I|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000443427.1_Missense_Mutation_p.S317I NM_001122742.1 NP_001116214.1 P03372 ESR1_HUMAN estrogen receptor 1 317 Interaction with AKAP13.|Steroid-binding. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1) 49 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) CAGATGGTCAGTGCCTTGTTG 0.547000 16 51 4.14922e-12 4.60393e-12 1 1 0 ERC2 26059 broad.mit.edu 37 3 55984528 55984528 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:55984528C>G ENST00000288221.6 - 13 2583 c.2328G>C c.(2326-2328)aaG>aaC p.K776N NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 776 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CATTTTTCTTCTTTTCCAACT 0.433000 13 31 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283469 152283469 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:152283469G>A ENST00000368799.1 - 3 3928 c.3893C>T c.(3892-3894)tCt>tTt p.S1298F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1298 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity 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) ctgctcccgagaagatccatg 0.552000 Ichthyosis 51 166 0 0 1 0 0 SERPINB10 5273 broad.mit.edu 37 18 61585204 61585204 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:61585204C>G ENST00000238508.3 + 4 299 c.240C>G c.(238-240)ttC>ttG p.F80L NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) TAAAGGAATTCAACTTGAGCA 0.348000 6 19 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11032100 11032100 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:11032100G>A ENST00000327064.4 + 15 1855 c.1665G>A c.(1663-1665)atG>atA p.M555I CARM1_ENST00000344150.4_Intron NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 555 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.M555I(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 GCTCCATAATGAGCACGGGGA 0.672000 44 107 0 0 1 0 0 FBXO48 554251 broad.mit.edu 37 2 68691491 68691491 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:68691491C>T ENST00000377957.2 - 4 725 c.318G>A c.(316-318)ctG>ctA p.L106L NM_001024680.1 NP_001019851.1 Q5FWF7 FBX48_HUMAN F-box protein 48 106 endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 4 GGTAATTCCTCAGCAGTATCA 0.408000 9 31 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281756 71281756 + Nonsense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:71281756G>C ENST00000335793.3 - 2 1278 c.884C>G c.(883-885)tCa>tGa p.S295* CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Nonsense_Mutation_p.S225* Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 295 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) GCTGCGGGCTGAGCCGGGGCT 0.711000 9 23 0 0 1 0 0 CNIH4 29097 broad.mit.edu 37 1 224544695 224544695 + Splice_Site SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:224544695C>G ENST00000465271.1 + 1 144 c.69_splice c.e1+1 p.F23_splice CNIH4_ENST00000366856.3_Splice_Site_p.F23_splice|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Splice_Site_p.F23_splice|CNIH4_ENST00000366857.5_Splice_Site_p.F23_splice NM_014184.3 NP_054903.1 Q9P003 CNIH4_HUMAN cornichon family AMPA receptor auxiliary protein 4 23 intracellular signal transduction endoplasmic reticulum|integral to membrane protein binding kidney(3)|lung(2)|ovary(2) 7 GBM - Glioblastoma multiforme(131;0.00341) CGGTCTACTTCGTATCCTTGC 0.662000 7 2 0 0 1 0 0 KIAA0907 22889 broad.mit.edu 37 1 155884061 155884061 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:155884061C>T ENST00000368321.3 - 14 1719 c.1696G>A c.(1696-1698)Gct>Act p.A566T KIAA0907_ENST00000368320.3_3'UTR NM_014949.2 NP_055764.2 Q7Z7F0 K0907_HUMAN KIAA0907 566 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GCAGCATAAGCCACCAAGCCA 0.438000 6 24 0 0 1 0 0 P2RX5-TAX1BP3 100533970 broad.mit.edu 37 17 3592908 3592908 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:3592908C>G ENST00000550383.1 - 7 819 c.631G>C c.(631-633)Gtc>Ctc p.V211L P2RX5_ENST00000345901.3_Missense_Mutation_p.V187L|P2RX5_ENST00000435558.1_Missense_Mutation_p.V211L|P2RX5_ENST00000552276.1_Missense_Mutation_p.V210L|P2RX5_ENST00000552050.1_Missense_Mutation_p.V151L|P2RX5_ENST00000225328.5_Missense_Mutation_p.V211L|P2RX5_ENST00000551178.1_Missense_Mutation_p.V186L|P2RX5_ENST00000550772.1_Intron|P2RX5_ENST00000547178.1_Missense_Mutation_p.V210L CTGTCCTTGACGTCCATCACA 0.577000 27 74 0 0 1 0 0 DNAJC14 85406 broad.mit.edu 37 12 56216472 56216472 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:56216472G>A ENST00000357606.3 - 6 1968 c.1679C>T c.(1678-1680)gCt>gTt p.A560V RP11-762I7.5_ENST00000552719.1_5'UTR|DNAJC14_ENST00000317269.3_Missense_Mutation_p.A560V|DNAJC14_ENST00000317287.5_Missense_Mutation_p.A560V|RP11-762I7.5_ENST00000546837.1_Silent_p.C189C Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 560 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 ATTACACTCAGCACAGTATCT 0.473000 26 64 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195452896 195452896 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:195452896C>G ENST00000320736.6 + 3 1035 c.909C>G c.(907-909)gtC>gtG p.V303V MUC20_ENST00000445522.2_Silent_p.V439V|MUC20_ENST00000436408.1_Silent_p.V474V|MUC20_ENST00000447234.2_Silent_p.V474V NM_001098516.1|NM_152673.2 NP_001091986.1|NP_689886.2 Q8N307 MUC20_HUMAN mucin 20, cell surface associated 474 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. Missing. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TCACTGAGGTCACAGCCTCTG 0.602000 8 49 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187542861 187542861 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:187542861G>A ENST00000441802.2 - 10 5088 c.4879C>T c.(4879-4881)Cga>Tga p.R1627* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1627 Cadherin 14. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGGTTACTTCGATCTAATTCT 0.368000 HNSCC(5;0.00058) 3 11 0 0 1 0 0 IGIP 492311 broad.mit.edu 37 5 139508127 139508127 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:139508127C>T ENST00000333305.3 + 1 2607 c.66C>T c.(64-66)gtC>gtT p.V22V NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA-inducing protein 22 extracellular region TATTTGCTGTCATGTTCTCCC 0.383000 11 36 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116060094 116060094 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:116060094G>C ENST00000369271.3 - 15 2116 c.1816C>G c.(1816-1818)Cct>Gct p.P606A AFAP1L2_ENST00000304129.4_Missense_Mutation_p.P606A|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.P659A NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 606 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CTCAGGGAAGGATCCTCTGGC 0.607000 35 93 0 0 1 0 0 FAM179B 23116 broad.mit.edu 37 14 45433482 45433482 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:45433482C>G ENST00000361462.2 + 1 2041 c.1858C>G c.(1858-1860)Cag>Gag p.Q620E FAM179B_ENST00000382233.2_Missense_Mutation_p.Q620E|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q620E|KLHL28_ENST00000553817.1_Intron Q9Y4F4 F179B_HUMAN family with sequence similarity 179, member B 620 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 TAACAGAACTCAGAGTGCACA 0.498000 44 40 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8999176 8999176 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:8999176C>G ENST00000344836.4 - 14 1639 c.1441G>C c.(1441-1443)Gat>Cat p.D481H USP7_ENST00000535863.1_Missense_Mutation_p.D382H|USP7_ENST00000381886.4_Missense_Mutation_p.D465H NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 481 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ACGTCGTCATCAAATTTACAC 0.458000 OREG0023595 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 40 0 0 1 0 0 ZNF444 55311 broad.mit.edu 37 19 56669875 56669875 + Missense_Mutation SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:56669875T>C ENST00000337080.3 + 4 677 c.310T>C c.(310-312)Tcc>Ccc p.S104P ZNF444_ENST00000592949.1_Missense_Mutation_p.S104P|ZNF444_ENST00000592171.1_3'UTR NM_001253792.1|NM_018337.3 NP_001240721.1|NP_060807.2 Q8N0Y2 ZN444_HUMAN zinc finger protein 444 104 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|lung(5) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0531) GCCAGCAGCCTCCCCCGATGG 0.587000 6 21 0 0 1 0 0 STRIP1 85369 broad.mit.edu 37 1 110585752 110585752 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:110585752G>A ENST00000369795.3 + 9 950 c.928G>A c.(928-930)Gag>Aag p.E310K STRIP1_ENST00000369796.1_Missense_Mutation_p.E215K NM_033088.2 NP_149079.2 striatin interacting protein 1 CATGAAGGCTGAGAAGCGCAG 0.587000 8 16 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172414284 172414284 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:172414284C>T ENST00000367727.4 + 2 291 c.93C>T c.(91-93)ctC>ctT p.L31L NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 31 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 CATTAGTGCTCAGCCTTCCCA 0.433000 5 20 0 0 1 0 0 PARM1 25849 broad.mit.edu 37 4 75937986 75937986 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:75937986C>T ENST00000307428.7 + 2 607 c.395C>T c.(394-396)gCa>gTa p.A132V RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron NM_015393.3 NP_056208.2 Q6UWI2 PARM1_HUMAN prostate androgen-regulated mucin-like protein 1 132 positive regulation of telomerase activity early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 ACTCCTGAAGCAGGCGTGGCA 0.582000 24 101 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148496405 148496405 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:148496405G>A ENST00000325222.4 + 21 2454 c.2175G>A c.(2173-2175)ctG>ctA p.L725L CUL1_ENST00000409469.1_Silent_p.L725L|CUL1_ENST00000602748.1_Silent_p.L725L NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 725 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GGAAGGTTCTGAAACACCAGC 0.458000 10 20 0 0 1 0 0 LENG9 94059 broad.mit.edu 37 19 54973654 54973654 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:54973654C>T ENST00000333834.4 - 1 1240 c.1122G>A c.(1120-1122)ggG>ggA p.G374G NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 374 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) CGGCCTCCTCCCCAGCGCCTG 0.652000 20 54 0 0 1 0 0 MIDN 90007 broad.mit.edu 37 19 1255542 1255542 + Silent SNP G G A rs45524034 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:1255542G>A ENST00000300952.2 + 7 1493 c.978G>A c.(976-978)tcG>tcA p.S326S MIDN_ENST00000591446.2_Silent_p.S326S NM_177401.4 NP_796375.3 Q504T8 MIDN_HUMAN midnolin 326 nucleolus NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) TGCCCCCTTCGCTGGCCCAGC 0.711000 6 22 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235933543 235933543 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:235933543G>C ENST00000389794.3 - 20 6013 c.5839C>G c.(5839-5841)Cac>Gac p.H1947D LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.H1947D Q99698 LYST_HUMAN lysosomal trafficking regulator 1947 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TGCTGGTGGTGATCTGCTCTG 0.388000 10 28 0 0 1 0 0 CCDC85B 11007 broad.mit.edu 37 11 65658862 65658862 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:65658862G>A ENST00000312579.2 + 1 988 c.608G>A c.(607-609)tGa>tAa p.*203* NM_006848.2 NP_006839.2 Q15834 CC85B_HUMAN coiled-coil domain containing 85B 0 cell differentiation|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus protein binding READ - Rectum adenocarcinoma(159;0.166) CCCGATGATTGAAGGCACTGC 0.711000 3 21 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126916103 126916103 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:126916103C>T ENST00000398112.1 + 2 815 c.575C>T c.(574-576)tCc>tTc p.S192F NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) GAATGGGCCTCCAGGTTCGGT 0.627000 11 43 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12976805 12976805 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:12976805G>C ENST00000251472.4 + 17 1957 c.1918G>C c.(1918-1920)Gag>Cag p.E640Q NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 640 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CGGCGCTTTTGAGGTGAAGCA 0.632000 10 43 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13659771 13659771 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:13659771G>T ENST00000404922.3 + 6 2044 c.1925G>T c.(1924-1926)cGc>cTc p.R642L FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L|FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 642 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GACGATGGCCGCACTTGCCGC 0.617000 17 41 1.99824e-07 2.16387e-07 1 1 0 OR1A2 26189 broad.mit.edu 37 17 3101367 3101367 + Silent SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:3101367G>C ENST00000381951.1 + 1 555 c.555G>C c.(553-555)ctG>ctC p.L185L NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 185 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 TGCCTTTGCTGAAGTTGTCCT 0.463000 18 73 0 0 1 0 0 DNAJC10 54431 broad.mit.edu 37 2 183623957 183623957 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:183623957C>T ENST00000264065.6 + 21 2483 c.2068C>T c.(2068-2070)Cat>Tat p.H690Y NM_018981.1 NP_061854.1 Q8IXB1 DJC10_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 10 690 Thioredoxin 4. apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGGGAAAAATCATTGGGTGAT 0.378000 8 24 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152461273 152461273 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:152461273G>A ENST00000367255.5 - 140 25871 c.25270C>T c.(25270-25272)Ctc>Ttc p.L8424F SYNE1_ENST00000539504.1_Missense_Mutation_p.L579F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L8036F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000354674.4_Missense_Mutation_p.L602F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L8424F|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.L8376F|SYNE1_ENST00000356820.4_Missense_Mutation_p.L2948F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8424 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGGCCTGGAGAAGCTCCCAT 0.478000 HNSCC(10;0.0054) 18 49 0 0 1 0 0 ZXDB 158586 broad.mit.edu 37 X 57618621 57618621 + Missense_Mutation SNP T T C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:57618621T>C ENST00000374888.1 + 1 353 c.140T>C c.(139-141)cTc>cCc p.L47P NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 47 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.L47P(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CTCCTGCTGCTCCGGGGCCCC 0.786000 3 5 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24409086 24409086 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:24409086G>A ENST00000330966.7 - 17 2254 c.2092C>T c.(2092-2094)Ctg>Ttg p.L698L RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Silent_p.L697L|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Silent_p.L697L Q5VTT5 MYOM3_HUMAN myomesin 3 697 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GACTCACCCAGAGCCTGCTTG 0.642000 12 23 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39978896 39978896 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:39978896C>T ENST00000373257.3 + 7 1052 c.961C>T c.(961-963)Ctc>Ttc p.L321F NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 321 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) GGGTCCCCCTCTCCACACCCC 0.622000 6 20 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55133465 55133465 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:55133465G>A ENST00000257290.5 + 6 1100 c.769G>A c.(769-771)Ggc>Agc p.G257S FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 257 Ig-like C2-type 3. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GAAAGGCAAAGGCATCACAAT 0.443000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 15 29 0 0 1 0 0 C12orf5 57103 broad.mit.edu 37 12 4430449 4430449 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:4430449C>T ENST00000179259.4 + 1 79 c.12C>T c.(10-12)ttC>ttT p.F4F NM_020375.2 NP_065108.1 Q9NQ88 TIGAR_HUMAN chromosome 12 open reading frame 5 4 intracellular fructose-2,6-bisphosphate 2-phosphatase activity endometrium(1)|large_intestine(1)|lung(5)|skin(3) 10 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) TGGCTCGCTTCGCTCTGACTG 0.647000 27 66 0 0 1 0 0 SLC38A5 92745 broad.mit.edu 37 X 48325429 48325429 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:48325429G>A ENST00000376876.3 - 4 1008 c.165C>T c.(163-165)ttC>ttT p.F55F SLC38A5_ENST00000317669.5_Silent_p.F55F|SLC38A5_ENST00000376875.1_Silent_p.F4F Q8WUX1 S38A5_HUMAN solute carrier family 38, member 5 55 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1) 19 TGCTGAGGTTGAACACTGACA 0.587000 OREG0019763 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 11 0 0 1 0 0 HMX3 340784 broad.mit.edu 37 10 124896593 124896593 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:124896593G>A ENST00000357878.5 + 2 509 c.420G>A c.(418-420)ctG>ctA p.L140L NM_001105574.1 NP_001099044.1 A6NHT5 HMX3_HUMAN H6 family homeobox 3 140 cell differentiation nucleus sequence-specific DNA binding transcription factor activity lung(4) 4 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141) AGGCCTTGCTGAGAGACTCCT 0.682000 8 15 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74683082 74683082 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:74683082G>A ENST00000361070.4 - 4 837 c.740C>T c.(739-741)tCa>tTa p.S247L RFWD3_ENST00000571750.1_Missense_Mutation_p.S247L NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 247 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 TTGCTCTGCTGAGACACCTGC 0.368000 8 22 0 0 1 0 0 HLA-F 3134 broad.mit.edu 37 6 29691994 29691994 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:29691994G>C ENST00000440587.2 + 3 384 c.25G>C c.(25-27)Gac>Cac p.D9H HLA-F_ENST00000376861.1_Missense_Mutation_p.D127H|HLA-F_ENST00000259951.7_Missense_Mutation_p.D127H|HLA-F_ENST00000334668.4_Missense_Mutation_p.D127H|HLA-F_ENST00000434407.2_Missense_Mutation_p.D127H P30511 HLAF_HUMAN major histocompatibility complex, class I, F 127 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 CATGGGGCCCGACGGACGCCT 0.692000 11 65 0 0 1 0 0 STX17 55014 broad.mit.edu 37 9 102677524 102677524 + Translation_Start_Site SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:102677524G>A ENST00000259400.6 + 2 139 c.3G>A c.(1-3)atG>atA p.M1I STX17_ENST00000534052.1_Start_Codon_SNP_p.M1I|STX17_ENST00000525640.1_Start_Codon_SNP_p.M1I|RP11-60I3.4_ENST00000524512.1_RNA NM_017919.2 NP_060389.2 P56962 STX17_HUMAN syntaxin 17 1 intracellular protein transport|vesicle-mediated transport endoplasmic reticulum|integral to membrane|nucleolus SNAP receptor activity endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TTTTTAGGATGTCTGAAGATG 0.343000 8 35 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90103732 90103732 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:90103732C>G ENST00000268699.4 + 7 971 c.849C>G c.(847-849)ctC>ctG p.L283L GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Silent_p.L258L NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 283 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) CAGACCCTCTCCAGAAGGCTC 0.587000 7 12 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101766734 101766734 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:101766734C>G ENST00000261637.4 + 52 7045 c.6871C>G c.(6871-6873)Caa>Gaa p.Q2291E NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 2291 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CATGCTCGCTCAACTGAAGTA 0.413000 9 16 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 30724513 30724513 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:30724513C>G ENST00000361762.2 + 1 2477 c.1469C>G c.(1468-1470)tCg>tGg p.S490W PCDH7_ENST00000543491.1_Missense_Mutation_p.S490W NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 490 Cadherin 4. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 TTGCACACCTCGACCCCTCTG 0.612000 11 34 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 152873564 152873564 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:152873564G>A ENST00000285900.5 + 2 502 c.159G>A c.(157-159)ccG>ccA p.P53P GRIA1_ENST00000518783.1_Silent_p.P63P|GRIA1_ENST00000518142.1_Silent_p.P53P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P63P|GRIA1_ENST00000521843.2_5'UTR|GRIA1_ENST00000340592.5_Silent_p.P53P NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 53 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGAGCCCCCGAAGCTGCTCC 0.433000 12 48 0 0 1 0 0 IDE 3416 broad.mit.edu 37 10 94225476 94225476 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:94225476G>C ENST00000265986.6 - 20 2501 c.2445C>G c.(2443-2445)atC>atG p.I815M IDE_ENST00000371581.5_Missense_Mutation_p.I260M|IDE_ENST00000496903.1_5'UTR NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme 815 beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AAGGTTCCGAGATAATCTGAC 0.443000 8 28 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 80271515 80271515 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:80271515G>C ENST00000281127.7 + 5 1849 c.970G>C c.(970-972)Gaa>Caa p.E324Q NRXN3_ENST00000335750.5_Missense_Mutation_p.E956Q|NRXN3_ENST00000554719.1_Missense_Mutation_p.E956Q|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.E324Q|NRXN3_ENST00000428277.2_Missense_Mutation_p.E354Q NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 324 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) AGACTTTGTTGAATGTGAGCC 0.358000 36 39 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151095916 151095916 + Nonsense_Mutation SNP T T A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:151095916T>A ENST00000474524.1 + 29 4366 c.4328T>A c.(4327-4329)tTg>tAg p.L1443* P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Nonsense_Mutation_p.L1303* NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1443 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGACAGCACTTGGGTTCTTCT 0.507000 8 21 0 0 1 0 0 MMP15 4324 broad.mit.edu 37 16 58076194 58076194 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:58076194C>T ENST00000219271.3 + 7 2009 c.1224C>T c.(1222-1224)atC>atT p.I408I NM_002428.2 NP_002419.1 P51511 MMP15_HUMAN matrix metallopeptidase 15 (membrane-inserted) 408 Hemopexin-like 1. protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CCATGCCCATCGGGCACTTCT 0.612000 12 36 0 0 1 0 0 PNMA2 10687 broad.mit.edu 37 8 26366052 26366052 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:26366052C>T ENST00000522362.2 - 3 1114 c.220G>A c.(220-222)Gat>Aat p.D74N NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 74 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) gccgagacatcagtatcttcc 0.478000 9 52 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6134769 6134769 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:6134769C>T ENST00000261405.5 - 24 3453 c.3199G>A c.(3199-3201)Gtc>Atc p.V1067I NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1067 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCCTGGAAGACGTCACTGGTA 0.552000 3 11 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27686843 27686843 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:27686843G>C ENST00000374040.3 - 15 2307 c.2047C>G c.(2047-2049)Cat>Gat p.H683D MAP3K6_ENST00000493901.1_Missense_Mutation_p.H691D|MAP3K6_ENST00000357582.2_Missense_Mutation_p.H691D O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 691 Protein kinase. activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) ATCTCTTCATGCAGGGGCTGA 0.617000 6 32 0 0 1 0 0 TRIP10 9322 broad.mit.edu 37 19 6744700 6744700 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:6744700G>A ENST00000600428.1 + 8 1100 c.454G>A c.(454-456)Gat>Aat p.D152N TRIP10_ENST00000313244.9_Missense_Mutation_p.D260N|TRIP10_ENST00000313285.8_Missense_Mutation_p.D260N|TRIP10_ENST00000596758.1_Missense_Mutation_p.D260N Q15642 CIP4_HUMAN thyroid hormone receptor interactor 10 260 Induction of membrane tubulation. actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup GTPase activator activity|identical protein binding|lipid binding p.D260N(1) NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 16 AAATGCTGTGGATCCCAAGAA 0.622000 21 57 0 0 1 0 0 NKX3-2 579 broad.mit.edu 37 4 13543912 13543912 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:13543912C>T ENST00000382438.5 - 2 1342 c.707G>A c.(706-708)cGc>cAc p.R236H NM_001189.3 NP_001180.1 P78367 NKX32_HUMAN NK3 homeobox 2 236 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 CAGGTCTGCGCGCTCGGGCCC 0.652000 4 7 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114499369 114499369 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:114499369C>T ENST00000369558.1 + 6 1760 c.1528C>T c.(1528-1530)Cta>Tta p.L510L HIPK1_ENST00000369561.4_Silent_p.L510L|HIPK1_ENST00000426820.2_Silent_p.L510L|HIPK1_ENST00000369554.2_Silent_p.L510L|HIPK1_ENST00000369553.1_Silent_p.L116L|HIPK1_ENST00000369559.4_Silent_p.L510L|HIPK1_ENST00000340480.4_Silent_p.L136L|HIPK1_ENST00000406344.1_Silent_p.L116L|HIPK1_ENST00000369555.2_Silent_p.L510L Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 510 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AATTACCCCTCTAAAAACTCT 0.408000 9 34 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128782077 128782077 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:128782077C>T ENST00000529694.1 + 2 1285 c.909C>T c.(907-909)gtC>gtT p.V303V KCNJ5_ENST00000533599.1_Silent_p.V303V|KCNJ5_ENST00000338350.4_Silent_p.V303V NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 303 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AAGTTGTGGTCATTCTAGAAG 0.517000 23 59 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137654985 137654985 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:137654985G>A ENST00000323760.6 - 7 816 c.538C>T c.(538-540)Cca>Tca p.P180S CDC25C_ENST00000415130.2_Missense_Mutation_p.P107S|CDC25C_ENST00000357274.3_Missense_Mutation_p.P137S|CDC25C_ENST00000356505.3_Missense_Mutation_p.P150S|CDC25C_ENST00000348983.3_Missense_Mutation_p.P107S|CDC25C_ENST00000514555.1_Missense_Mutation_p.P150S|CDC25C_ENST00000513970.1_Missense_Mutation_p.P180S NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 180 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CCTAGGTTTGGATTTTTATCC 0.378000 6 17 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43986078 43986078 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr13:43986078C>A ENST00000261488.6 - 5 759 c.182G>T c.(181-183)gGg>gTg p.G61V ENOX1_ENST00000412891.1_Missense_Mutation_p.G61V NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 61 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TCCAGGCAACCCTACGGGAAC 0.552000 19 26 8.34094e-07 8.93672e-07 1 1 0 IL21 59067 broad.mit.edu 37 4 123541999 123541999 + Splice_Site SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:123541999C>A ENST00000264497.3 - 1 225 c.168_splice c.e1+1 p.L56_splice IL21-AS1_ENST00000417927.1_RNA NM_001207006.2|NM_021803.3 NP_001193935.1|NP_068575.1 Q9HBE4 IL21_HUMAN interleukin 21 49 cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction extracellular space cytokine activity|interleukin-2 receptor binding NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3) 8 ATAGTCTTACCAAGTCATTCA 0.313000 13 20 1.5842e-08 1.72938e-08 1 1 0 NEURL1 9148 broad.mit.edu 37 10 105331513 105331513 + Missense_Mutation SNP C C T rs144450414 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:105331513C>T ENST00000369780.4 + 3 992 c.583C>T c.(583-585)Cgc>Tgc p.R195C NEURL_ENST00000465048.1_3'UTR|NEURL_ENST00000369777.2_Missense_Mutation_p.R178C NM_004210.4 NP_004201.3 O76050 NEU1A_HUMAN 195 NHR 1. nervous system development perinuclear region of cytoplasm zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 17 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) CAGCGGGGTCCGCACGGCCGA 0.652000 17 48 0 0 1 0 0 OR51B5 282763 broad.mit.edu 37 11 5364075 5364075 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:5364075G>T ENST00000300773.2 - 1 734 c.680C>A c.(679-681)gCc>gAc p.A227D HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTCTCTGGAGGCAATGCTCAG 0.443000 12 39 0.00010058 0.000105258 1 1 0 ZNF492 57615 broad.mit.edu 37 19 22836775 22836775 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:22836775C>A ENST00000456783.2 + 3 332 c.88C>A c.(88-90)Cct>Act p.P30T NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 30 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P30S(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) AGGAAAAGAACCTTGGAATGT 0.423000 11 40 2.27111e-07 2.4528e-07 1 1 0 LRP4 4038 broad.mit.edu 37 11 46920136 46920136 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:46920136C>G ENST00000378623.1 - 7 1011 c.769G>C c.(769-771)Gat>Cat p.D257H NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 257 LDL-receptor class A 6. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GACTGGTCATCACAGTCCGCG 0.577000 36 98 0 0 1 0 0 SMCHD1 23347 broad.mit.edu 37 18 2700874 2700874 + Missense_Mutation SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:2700874G>T ENST00000320876.6 + 12 1943 c.1605G>T c.(1603-1605)ttG>ttT p.L535F SMCHD1_ENST00000261598.8_Missense_Mutation_p.L535F|RP11-703M24.5_ENST00000583546.1_RNA NM_015295.2 NP_056110.2 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible hinge domain containing 1 535 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 AGCTAAAATTGAAAGATAAGA 0.279000 6 19 0.0215528 0.0219871 1 1 0 KMT2B 9757 broad.mit.edu 37 19 36210688 36210688 + Nonsense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:36210688C>T ENST00000222270.7 + 3 439 c.439C>T c.(439-441)Cga>Tga p.R147* WBP7_ENST00000341701.1_Nonsense_Mutation_p.R147*|KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Nonsense_Mutation_p.R147* NM_014727.1 NP_055542.1 p.R147*(1) CCTTTTAGGTCGAGCGCCCCG 0.597000 25 96 0 0 1 0 0 TCEAL5 340543 broad.mit.edu 37 X 102528878 102528878 + Missense_Mutation SNP T T G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:102528878T>G ENST00000372680.1 - 3 908 c.614A>C c.(613-615)tAt>tCt p.Y205S NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 205 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 acattaaacatATGGGACATC 0.502000 21 38 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42343842 42343842 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr20:42343842C>G ENST00000217026.4 + 13 2020 c.1893C>G c.(1891-1893)ctC>ctG p.L631L MYBL2_ENST00000396863.4_Silent_p.L607L NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 631 nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACAGCTTGCTCAACCAGGGCT 0.562000 58 156 0 0 1 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257470 41257470 + Missense_Mutation SNP C C G rs145804206 by1000genomes TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr22:41257470C>G ENST00000307221.4 - 1 660 c.529G>C c.(529-531)Gat>Cat p.D177H XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron NM_145174.1 NP_660157.1 Q7Z6W7 DNJB7_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 7 177 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 CCACTATTATCAAAAGCCAGG 0.333000 12 36 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413639 72413639 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:72413639C>G ENST00000395270.1 + 14 3353 c.2312C>G c.(2311-2313)tCg>tGg p.S771W POM121_ENST00000358357.3_Missense_Mutation_p.S771W|POM121_ENST00000434423.2_Missense_Mutation_p.S1036W|POM121_ENST00000257622.4_Missense_Mutation_p.S771W|POM121_ENST00000446813.1_Missense_Mutation_p.S771W NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1036 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCCACGCACTCGGCGTTTGGG 0.652000 21 62 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 21592355 21592355 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:21592355C>G ENST00000298925.5 + 19 2263 c.2110C>G c.(2110-2112)Cca>Gca p.P704A NELL1_ENST00000325319.5_Missense_Mutation_p.P619A|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000357134.5_Missense_Mutation_p.P676A|NELL1_ENST00000532434.1_Missense_Mutation_p.P629A Q92832 NELL1_HUMAN NEL-like 1 (chicken) 676 VWFC 4. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TTGCCAGAATCCAAGTGCTGA 0.433000 15 43 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41725483 41725483 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr21:41725483C>G ENST00000400454.1 - 5 1320 c.843G>C c.(841-843)gaG>gaC p.E281D NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 281 Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GGCGAATGTTCTCAATGAGCA 0.557000 14 52 0 0 1 0 0 TARS2 80222 broad.mit.edu 37 1 150463905 150463905 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:150463905G>A ENST00000369064.3 + 5 582 c.548G>A c.(547-549)cGg>cAg p.R183Q TARS2_ENST00000369054.2_Missense_Mutation_p.R183Q|TARS2_ENST00000438568.2_Silent_p.A141A|TARS2_ENST00000606933.1_Missense_Mutation_p.R183Q NM_025150.3 NP_079426.2 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial (putative) 183 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) GTTTTGGAGCGGATTTGCCAG 0.562000 16 59 0 0 1 0 0 RFWD3 55159 broad.mit.edu 37 16 74678518 74678518 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:74678518G>A ENST00000361070.4 - 5 1005 c.908C>T c.(907-909)tCa>tTa p.S303L RFWD3_ENST00000571750.1_Missense_Mutation_p.S303L NM_018124.3 NP_060594.3 Q6PCD5 RFWD3_HUMAN ring finger and WD repeat domain 3 303 DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation nucleus MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 26 GCGTAATGCTGAGAGCCGGTG 0.502000 7 37 0 0 1 0 0 LAMB1 3912 broad.mit.edu 37 7 107626633 107626633 + Nonsense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:107626633G>C ENST00000393561.1 - 4 855 c.671C>G c.(670-672)tCa>tGa p.S224* LAMB1_ENST00000222399.6_Nonsense_Mutation_p.S200*|LAMB1_ENST00000393560.1_Nonsense_Mutation_p.S200* P07942 LAMB1_HUMAN laminin, beta 1 200 Laminin N-terminal. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTTCAGTTGAGGGTTCAAT 0.383000 11 32 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196837116 196837116 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:196837116G>A ENST00000312428.6 - 16 2008 c.1908C>T c.(1906-1908)ctC>ctT p.L636L NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 636 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TGAGGAAGGCGAGGCAGTTTT 0.398000 11 40 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40900809 40900809 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:40900809G>A ENST00000324001.7 - 7 3720 c.3450C>T c.(3448-3450)atC>atT p.I1150I PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1150 Glu-rich (acidic). axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTGGCAGGGAGATGCCCAGCG 0.652000 26 56 0 0 1 0 0 CBLN2 147381 broad.mit.edu 37 18 70209304 70209304 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr18:70209304C>T ENST00000269503.4 - 3 865 c.92G>A c.(91-93)tGc>tAc p.C31Y CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.C31Y|CBLN2_ENST00000583651.1_Intron NM_182511.3 NP_872317.1 Q8IUK8 CBLN2_HUMAN cerebellin 2 precursor 31 integral to membrane endometrium(2)|lung(15) 17 Esophageal squamous(42;0.131) CACCCCCAGGCAGGATCCGCA 0.766000 6 20 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63073370 63073370 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:63073370G>C ENST00000561311.1 + 43 5776 c.5546G>C c.(5545-5547)gGa>gCa p.G1849A TLN2_ENST00000472902.1_Missense_Mutation_p.G242A|TLN2_ENST00000306829.6_Missense_Mutation_p.G1849A Q9Y4G6 TLN2_HUMAN talin 2 1849 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GAACCAAAGGGAACATTTGTC 0.478000 8 29 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41000406 41000406 + Missense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:41000406C>A ENST00000399564.4 - 39 4848 c.4398G>T c.(4396-4398)caG>caT p.Q1466H MROH2B_ENST00000506092.2_Missense_Mutation_p.Q1021H NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B CATAGAGCTCCTGGAGGCCCA 0.488000 10 17 7.48243e-07 8.03815e-07 1 1 0 KIAA2026 158358 broad.mit.edu 37 9 5924783 5924783 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:5924783C>T ENST00000399933.3 - 7 2560 c.2561G>A c.(2560-2562)aGa>aAa p.R854K KIAA2026_ENST00000381461.2_Missense_Mutation_p.R824K NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 854 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CCATAGTTCTCTATTAAATGT 0.373000 6 26 0 0 1 0 0 PGK1 5230 broad.mit.edu 37 X 77378330 77378330 + Splice_Site SNP A A C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:77378330A>C ENST00000373316.4 + 7 808 c.e7-1 PGK1_ENST00000442431.1_Splice_Site|PGK1_ENST00000537456.1_Splice_Site NM_000291.3 NP_000282.1 P00558 PGK1_HUMAN phosphoglycerate kinase 1 gluconeogenesis|glycolysis cytosol ATP binding|phosphoglycerate kinase activity breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 24 TTTCTCTTGTAGAGCTAAAGT 0.378000 14 23 0 0 1 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94343367 94343367 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:94343367C>G ENST00000436063.2 - 2 181 c.124G>C c.(124-126)Gat>Cat p.D42H DNTTIP2_ENST00000460191.1_5'UTR NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) GTTCGGGCATCAGATCCAGTA 0.453000 7 11 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98392664 98392664 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr10:98392664C>T ENST00000371109.3 - 1 334 c.153G>A c.(151-153)aaG>aaA p.K51K PIK3AP1_ENST00000339364.5_Intron|PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000468783.1_Intron Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 449 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) ctgggacatgcttggcaccag 0.478000 10 28 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235599721 235599721 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:235599721C>G ENST00000543662.1 + 11 1113 c.1007C>G c.(1006-1008)tCt>tGt p.S336C TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.S285C|TBCE_ENST00000366601.3_Missense_Mutation_p.S285C Q15813 TBCE_HUMAN tubulin folding cofactor E 285 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) TTAATCCTCTCTGACACTGGA 0.373000 6 19 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66459213 66459213 + Missense_Mutation SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:66459213C>G ENST00000246868.2 - 2 427 c.244G>C c.(244-246)Gaa>Caa p.E82Q NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 82 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 TTACAGATTTCAGTTTGGTCA 0.383000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 12 39 0 0 1 0 0 KIF5C 3800 broad.mit.edu 37 2 149818561 149818561 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:149818561G>C ENST00000435030.1 + 11 1413 c.1045G>C c.(1045-1047)Gag>Cag p.E349Q KIF5C_ENST00000414838.2_Missense_Mutation_p.E254Q|KIF5C_ENST00000397413.1_Missense_Mutation_p.E117Q|KIF5C_ENST00000464066.1_3'UTR O60282 KIF5C_HUMAN kinesin family member 5C 349 Kinesin-motor. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) ATATGAAAAAGAGAAAGAGAA 0.398000 4 16 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62207862 62207862 + Missense_Mutation SNP G G C TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:62207862G>C ENST00000261517.5 - 61 8488 c.8415C>G c.(8413-8415)ttC>ttG p.F2805L VPS13C_ENST00000249837.3_Missense_Mutation_p.F2762L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2805L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2762L NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 2805 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TCTTCTTCTTGAAAGAAAATA 0.323000 4 14 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990433 63990433 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr6:63990433C>T ENST00000370658.5 - 5 635 c.602G>A c.(601-603)gGa>gAa p.G201E LGSN_ENST00000370657.4_Silent_p.G341G NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 0 glutamine biosynthetic process glutamate-ammonia ligase activity p.G341G(1) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) ACCATTTTTTCCCAGTGATCG 0.488000 13 53 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187842 121187842 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:121187842G>A ENST00000321339.1 + 1 193 c.184G>A c.(184-186)Gcc>Acc p.A62T NM_177478.1 NP_803431.1 Q8N4E7 FTMT_HUMAN ferritin mitochondrial 62 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) TACCGGGCCCGCCGCCGGCCC 0.736000 8 19 0 0 1 0 0 ZMYM1 79830 broad.mit.edu 37 1 35563106 35563106 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:35563106G>A ENST00000373330.1 + 5 532 c.358G>A c.(358-360)Gaa>Aaa p.E120K ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.E120K Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 120 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ATGCATCACTGAATACATTTC 0.398000 12 47 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118509672 118509672 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:118509672G>A ENST00000361417.2 + 12 3010 c.2599G>A c.(2599-2601)Gaa>Aaa p.E867K PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E867K|PHLDB1_ENST00000527898.1_5'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 867 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GCAGGAATCAGAACGCCTGGC 0.622000 7 22 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67292604 67292604 + Silent SNP A A T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:67292604A>T ENST00000371026.3 - 15 2293 c.2238T>A c.(2236-2238)gcT>gcA p.A746A WDR78_ENST00000431318.1_Silent_p.A459A NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 746 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CAACAGAAGTAGCTGGATAAA 0.398000 18 39 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164741468 164741468 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:164741468C>T ENST00000264382.3 - 26 3051 c.2989G>A c.(2989-2991)Gct>Act p.A997T NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 997 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGGAGGTCAGCTGTTATACCC 0.403000 HNSCC(35;0.089) 8 29 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38886310 38886310 + Missense_Mutation SNP A A G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr5:38886310A>G ENST00000502536.1 + 7 1291 c.1009A>G c.(1009-1011)Aca>Gca p.T337A OSMR_ENST00000274276.3_Intron NM_001168355.1 NP_001161827.1 Q99650 OSMR_HUMAN oncostatin M receptor 0 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TAGAGTTGTCACAGCCCACCG 0.423000 11 38 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91461609 91461609 + Silent SNP C C G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr15:91461609C>G ENST00000360468.3 + 20 3198 c.3180C>G c.(3178-3180)ctC>ctG p.L1060L MAN2A2_ENST00000430376.2_Silent_p.L250L|MAN2A2_ENST00000558538.1_3'UTR|MAN2A2_ENST00000559717.1_Silent_p.L1060L|MAN2A2_ENST00000431652.2_Silent_p.L568L NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 1060 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TACGTACGCTCCAGGCTGAGG 0.592000 19 43 0 0 1 0 0 C1QL1 10882 broad.mit.edu 37 17 43037675 43037675 + Missense_Mutation SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:43037675C>T ENST00000253407.3 - 2 680 c.658G>A c.(658-660)Gtg>Atg p.V220M NM_006688.3 NP_006679.1 O75973 C1QRF_HUMAN complement component 1, q subcomponent-like 1 220 C1q. locomotory behavior collagen lung(1)|prostate(1) 2 Prostate(33;0.155) TGCAGGATCACGCTGTTGCTG 0.622000 22 43 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128480908 128480908 + Nonsense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:128480908G>A ENST00000322313.4 - 12 1368 c.1210C>T c.(1210-1212)Cga>Tga p.R404* NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 404 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) GGTCGGTTTCGAGTCCAGAAT 0.388000 13 23 0 0 1 0 0 UBB 7314 broad.mit.edu 37 17 16285800 16285800 + Silent SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:16285800G>A ENST00000302182.3 + 2 971 c.579G>A c.(577-579)caG>caA p.Q193Q RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.Q193Q|UBB_ENST00000395839.1_Silent_p.Q193Q|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.Q117Q NM_018955.2 NP_061828.1 P0CG47 UBB_HUMAN ubiquitin B 193 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) CCGACCAGCAGAGGCTCATCT 0.562000 15 47 0 0 1 0 0 ATN1 1822 broad.mit.edu 37 12 7046408 7046408 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr12:7046408G>A ENST00000356654.4 + 5 2215 c.1978G>A c.(1978-1980)Ggg>Agg p.G660R ATN1_ENST00000396684.2_Missense_Mutation_p.G660R NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 660 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 ATACAAACCCGGGTCGCCTCC 0.697000 9 16 0 0 1 0 0 ADC 113451 broad.mit.edu 37 1 33549576 33549576 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:33549576G>A ENST00000294517.6 + 5 714 c.127G>A c.(127-129)Gtg>Atg p.V43M ADC_ENST00000373443.3_Missense_Mutation_p.V43M|ADC_ENST00000398167.1_Missense_Mutation_p.V43M|ADC_ENST00000358680.3_Missense_Mutation_p.V43M|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373440.1_Missense_Mutation_p.V43M|ADC_ENST00000373441.1_Missense_Mutation_p.V43M NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 43 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TGCCTTCTTCGTGGCTGACCT 0.547000 17 30 0 0 1 0 0 ZNRF4 148066 broad.mit.edu 37 19 5456148 5456148 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:5456148G>A ENST00000222033.4 + 1 723 c.646G>A c.(646-648)Gag>Aag p.E216K NM_181710.3 NP_859061.3 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 216 PA. integral to membrane zinc ion binding NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GTTCGTGAGCGAGGCCGCCTC 0.667000 21 83 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136561591 136561591 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:136561591C>T ENST00000264162.2 - 11 4582 c.4572G>A c.(4570-4572)caG>caA p.Q1524Q NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1524 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) CTCCCAGCCTCTGGAAGAGCA 0.527000 12 40 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167138190 167138190 + Splice_Site SNP T T G TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr2:167138190T>G ENST00000303354.6 - 13 2446 c.2107_splice c.e13+1 p.E702_splice SCN9A_ENST00000375387.4_Splice_Site_p.E702_splice|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site_p.E690_splice|SCN9A_ENST00000409435.1_Splice_Site_p.E701_splice Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 701 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) ATTACATACCTTCCACAGTGT 0.353000 10 25 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775313 24775313 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:24775313G>A ENST00000221166.5 + 3 2727 c.1945G>A c.(1945-1947)Gaa>Aaa p.E649K NEFM_ENST00000521540.1_Intron|NEFM_ENST00000437366.2_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E273K|NEFM_ENST00000518131.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 649 6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GTCACCAGTGGAAGAGAAAGG 0.502000 18 76 0 0 1 0 0 PLA2G5 5322 broad.mit.edu 37 1 20417104 20417104 + Silent SNP G G T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:20417104G>T ENST00000375108.3 + 5 604 c.336G>T c.(334-336)cgG>cgT p.R112R PLA2G5_ENST00000486277.1_3'UTR NM_000929.2 NP_000920.1 P39877 PA2G5_HUMAN phospholipase A2, group V 112 lipid catabolic process extracellular region calcium ion binding|calcium-dependent phospholipase A2 activity NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652) CCTGTGACCGGAAGCTCGTCT 0.567000 24 59 1.10513e-12 1.233e-12 1 1 0 LRP8 7804 broad.mit.edu 37 1 53736707 53736707 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr1:53736707C>T ENST00000306052.6 - 8 1346 c.1245G>A c.(1243-1245)aaG>aaA p.K415K LRP8_ENST00000465675.1_Intron|LRP8_ENST00000347547.2_Silent_p.K245K|LRP8_ENST00000354412.3_Silent_p.K286K|LRP8_ENST00000371454.2_Silent_p.K415K NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 415 EGF-like 2; calcium-binding (Potential). cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TACCAGCAGCCTTGCAGTTCT 0.542000 16 52 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768178 31768178 + Nonsense_Mutation SNP C C A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr19:31768178C>A ENST00000240587.4 - 2 2848 c.2521G>T c.(2521-2523)Gag>Tag p.E841* NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 841 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AAGGCATTCTCGCGTAGCGGC 0.522000 19 65 1.55795e-14 1.74783e-14 1 1 0 SI 6476 broad.mit.edu 37 3 164733747 164733753 + Frame_Shift_Del DEL ATAATGT ATAATGT - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr3:164733747_164733753delATAATGT ENST00000264382.3 - 32 3937_3943 c.3875_3881delACATTAT c.(3874-3882)ttfs p.YII1292fs NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1292 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GACCAGGATAATAATGTATCTCATTCC 0.386 HNSCC(35;0.089) 9 31 --- --- --- --- TAPT1-AS1 202020 broad.mit.edu 37 4 16257859 16257860 + RNA INS - - T rs146274448 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr4:16257859_16257860insT ENST00000570786.1 + 0 234 TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA NR_027696.1 GAGGGTTTGTCTTTTTTTTTTT 0.381 2 4 --- --- --- --- RBAK 57786 broad.mit.edu 37 7 5105180 5105180 + Frame_Shift_Del DEL A A - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:5105180delA ENST00000396912.1 + 5 2612 c.2093delA c.(2092-2094)cgfs p.Q698fs RBAK_ENST00000407184.1_Intron|RBAK_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Frame_Shift_Del_p.Q698fs NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 698 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) AATAGCCATCAGAGAATTCAT 0.368 13 31 --- --- --- --- OCM2 4951 broad.mit.edu 37 7 97619416 97619416 + Translation_Start_Site DEL T T - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr7:97619416delT ENST00000257627.4 - 0 92 OCM2_ENST00000473987.2_5'UTR NM_006188.3 NP_006179.2 P0CE71 OCM2_HUMAN oncomodulin 2 calcium ion binding lung(4) 4 GTGATGCTCATTTTCTACCTA 0.542 9 29 --- --- --- --- WRN 7486 broad.mit.edu 37 8 30924631 30924631 + Frame_Shift_Del DEL G G - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr8:30924631delG ENST00000298139.5 + 6 836 c.587delG c.(586-588)ccfs p.R196fs NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 196 3'-5' exonuclease.|Interaction with WRNIP1 (By similarity). base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAGTCTATCCGCTGTAGCAAT 0.413 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 13 --- --- --- --- GPSM1 26086 broad.mit.edu 37 9 139235482 139235482 + Frame_Shift_Del DEL C C - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr9:139235482delC ENST00000392945.3 + 9 1459 c.1239delC c.(1237-1239)ctfs p.L413fs GPSM1_ENST00000440944.1_Intron NM_015597.4 NP_056412.4 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 0 Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity). cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) GGGTCTTGCTCCCCACAGGCA 0.687 3 6 --- --- --- --- TRIM51HP 440041 broad.mit.edu 37 11 55063079 55063079 + RNA DEL C C - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr11:55063079delC ENST00000526016.1 - 0 558 NR_038174.2 CACAGCCTCTCCAAATGTTGT 0.413 7 22 --- --- --- --- AJUBA 84962 broad.mit.edu 37 14 23450571 23450571 + Frame_Shift_Del DEL G G - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr14:23450571delG ENST00000262713.2 - 1 1280 c.905delC c.(904-906)tgfs p.S302fs AJUBA_ENST00000361265.4_Frame_Shift_Del_p.S302fs|RP11-298I3.5_ENST00000555074.1_Intron NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 302 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding CTCAATCCCCGAGGGTTCTCC 0.701 38 22 --- --- --- --- NLRC3 197358 broad.mit.edu 37 16 3594162 3594163 + RNA INS - - A rs60164526 TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr16:3594162_3594163insA ENST00000301749.7 - 0 3261 NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ttgtctcgaggaaaaaaaaaaa 0.490 2 4 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248524 44248525 + Frame_Shift_Del DEL AA AA - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chr17:44248524_44248525delAA ENST00000262419.6 - 2 1455_1456 c.985_986delTT c.(985-987)gfs p.L329fs KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.L329fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.L329fs NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 329 MLL1 complex protein binding CAGTTTGCTCAAAGTCTTCTCC 0.510 19 105 --- --- --- --- ARAF 369 broad.mit.edu 37 X 47422420 47422420 + Frame_Shift_Del DEL G G - TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:47422420delG ENST00000377045.4 + 2 248 c.54delG c.(52-54)gtfs p.V18fs ARAF_ENST00000377039.2_Frame_Shift_Del_p.V18fs|ARAF_ENST00000290277.6_Frame_Shift_Del_p.V18fs NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 18 intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) CCCGGGCAGTGGGCACCGTCA 0.612 OREG0019758 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- CXXC1P1 392459 broad.mit.edu 37 X 47578328 47578329 + RNA INS - - T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b93391c-53df-4695-9ebc-569f0f052ed4 2f5f3260-13e1-4982-839d-19527ab3948d g.chrX:47578328_47578329insT ENST00000483225.1 + 0 195 NR_033924.1 CAAAGCTGCCGTTTTTTTGTGT 0.495 2 4 --- --- --- ---