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 NFKBIE 4794 broad.mit.edu 37 6 44228230 44228230 + Silent SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:44228230G>C ENST00000275015.5 - 4 1154 c.1155C>G c.(1153-1155)ctC>ctG p.L385L NM_004556.2 NP_004547.2 O00221 IKBE_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 385 cytoplasmic sequestering of transcription factor protein binding p.L385L(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1) 10 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCAATTCCATGAGTGGTTGGT 0.587000 4 78 0 0 0.009096 0 0 ABCC9 10060 broad.mit.edu 37 12 22068801 22068801 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:22068801T>A ENST00000261200.4 - 5 616 c.617A>T c.(616-618)gAa>gTa p.E206V ABCC9_ENST00000345162.2_Missense_Mutation_p.E206V|ABCC9_ENST00000261201.4_Missense_Mutation_p.E206V NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 206 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.E206V(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGGAGGTCTTCAGGAGGCTT 0.363000 13 66 0 0 0.016723 0 0 EEF1A2 1917 broad.mit.edu 37 20 62121989 62121989 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:62121989G>A ENST00000217182.3 - 6 1037 c.872C>T c.(871-873)tCa>tTa p.S291L EEF1A2_ENST00000298049.7_Missense_Mutation_p.S291L NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 291 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity p.S291L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) CATCTCCACTGACTTCACCTC 0.637000 16 69 0 0 0.024245 0 0 PCLO 27445 broad.mit.edu 37 7 82584974 82584974 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:82584974A>G ENST00000423517.2 - 5 5632 c.5295T>C c.(5293-5295)ccT>ccC p.P1765P PCLO_ENST00000333891.8_Silent_p.P1765P NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1696 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.P1765P(2)|p.P1696P(1) 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 TAGGCAAAAGAGGGCCATGTG 0.438000 16 183 0 0 0.028581 0 0 SELV 348303 broad.mit.edu 37 19 40009424 40009424 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:40009424C>T ENST00000423711.1 + 4 979 c.879C>T c.(877-879)caC>caT p.H293H SELV_ENST00000335426.4_Silent_p.H293H P59797 SELV_HUMAN 293 cell redox homeostasis selenium binding p.H293H(1) breast(1)|endometrium(1)|lung(3)|prostate(1) 6 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TTCCGAATCACCTACTCTTTG 0.577000 14 64 0 0 0.033300 0 0 PON1 5444 broad.mit.edu 37 7 94940832 94940832 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:94940832A>G ENST00000222381.3 - 5 659 c.428T>C c.(427-429)tTg>tCg p.L143S PON1_ENST00000542556.1_Missense_Mutation_p.L143S NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 143 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity p.L143S(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) AAATTTAAACAACTCCACTGT 0.358000 11 125 0 0 0.010729 0 0 GOSR2 9570 broad.mit.edu 37 17 45009463 45009463 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:45009463G>T ENST00000415811.2 + 4 289 c.234G>T c.(232-234)caG>caT p.Q78H GOSR2_ENST00000439730.2_Missense_Mutation_p.Q78H|GOSR2_ENST00000393456.2_Missense_Mutation_p.Q78H|GOSR2_ENST00000576910.2_Missense_Mutation_p.Q78H|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.Q78H|GOSR2_ENST00000225567.4_Missense_Mutation_p.Q78H|GOSR2_ENST00000575949.1_Missense_Mutation_p.Q78H NM_001012511.1 NP_001012529.1 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 78 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity p.Q78_H79>HY(3) kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) ATGATGTCCAGCACCTGCAGA 0.527000 11 121 1.5842e-08 1.97268e-08 0.016723 1 0 ZNF383 163087 broad.mit.edu 37 19 37734245 37734245 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:37734245G>A ENST00000589413.1 + 8 1690 c.1107G>A c.(1105-1107)aaG>aaA p.K369K ZNF383_ENST00000590503.1_Silent_p.K369K|ZNF383_ENST00000352998.3_Silent_p.K369K Q8NA42 ZN383_HUMAN zinc finger protein 383 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.K369K(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGATTGTAAGGAATGTGGAA 0.443000 12 69 0 0 0.013537 0 0 ARVCF 421 broad.mit.edu 37 22 19965107 19965107 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr22:19965107C>A ENST00000263207.3 - 9 1992 c.1701G>T c.(1699-1701)tcG>tcT p.S567S ARVCF_ENST00000406522.1_Silent_p.S504S|ARVCF_ENST00000406259.1_Silent_p.S567S|ARVCF_ENST00000401994.1_Silent_p.S504S|ARVCF_ENST00000344269.3_Silent_p.S504S NM_001670.2 NP_001661.1 O00192 ARVC_HUMAN armadillo repeat gene deleted in velocardiofacial syndrome 567 cell adhesion|multicellular organismal development protein binding p.S567S(1) NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2) 13 Colorectal(54;0.0993) AGTTCTCCACCGACTGCAGGG 0.677000 10 38 2.17888e-05 2.55072e-05 0.006214 1 0 SBDS 51119 broad.mit.edu 37 7 66459324 66459324 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:66459324T>C ENST00000246868.2 - 2 316 c.133A>G c.(133-135)Aaa>Gaa p.K45E NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 45 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 p.K45E(1) cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 TCGAGGTCTTTTTCCCTTGTG 0.413000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 22 116 0 0 0.027356 0 0 POLE 5426 broad.mit.edu 37 12 133219533 133219533 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:133219533T>G ENST00000320574.5 - 36 4644 c.4601A>C c.(4600-4602)cAc>cCc p.H1534P POLE_ENST00000535270.1_Missense_Mutation_p.H1507P NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1534 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding p.H1534P(2) NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GAGGAGGCCGTGCTCTGCTGA 0.642000 DNA polymerases (catalytic subunits) 10 35 0 0 0.006214 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435376 7435376 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:7435376C>T ENST00000319098.4 - 1 1324 c.1231G>A c.(1231-1233)Gag>Aag p.E411K SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000507866.2_Intron NM_001085382.1 NP_001078851.1 Q6NUJ1 SAPL1_HUMAN prosaposin-like 1 (gene/pseudogene) 411 Saposin B-type 4. sphingolipid metabolic process extracellular region|lysosome p.E411K(1)|p.E143K(1) lung(4) 4 CTCTTGCTCTCCAAGTTGTGG 0.602000 5 15 0 0 0.014758 0 0 FARSB 10056 broad.mit.edu 37 2 223513485 223513485 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:223513485C>G ENST00000281828.6 - 2 351 c.88G>C c.(88-90)Gaa>Caa p.E30Q FARSB_ENST00000536361.1_5'UTR NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 30 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding p.E30Q(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) AGACCAAATTCAAAACATAGT 0.308000 17 104 0 0 0.038395 0 0 RBL1 5933 broad.mit.edu 37 20 35627292 35627292 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:35627292T>G ENST00000373664.3 - 22 3143 c.3077A>C c.(3076-3078)cAg>cCg p.Q1026P NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) 1026 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding p.Q1026P(1) NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) CTTGGTTCTCTGCTCACCTTG 0.438000 13 127 0 0 0.016723 0 0 PRDM11 56981 broad.mit.edu 37 11 45241290 45241290 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:45241290C>G ENST00000263765.4 + 7 1075 c.826C>G c.(826-828)Cac>Gac p.H276D PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000424263.2_Missense_Mutation_p.H242D|PRDM11_ENST00000530656.1_Missense_Mutation_p.H276D|CTD-2560E9.3_ENST00000527450.1_RNA Q9NQV5 PRD11_HUMAN PR domain containing 11 276 p.H276D(1) endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GGAAACCATTCACCGCAACCT 0.627000 3 15 0 0 0.004672 0 0 C2CD5 9847 broad.mit.edu 37 12 22623828 22623828 + Silent SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:22623828G>C ENST00000333957.4 - 21 2631 c.2376C>G c.(2374-2376)gtC>gtG p.V792V C2CD5_ENST00000544930.1_Silent_p.V607V|C2CD5_ENST00000536386.1_Silent_p.V794V|C2CD5_ENST00000545552.1_Silent_p.V805V|C2CD5_ENST00000542676.1_Silent_p.V792V|C2CD5_ENST00000396028.2_Silent_p.V783V|C2CD5_ENST00000446597.1_Silent_p.V792V NM_014802.1 NP_055617.1 C2 calcium-dependent domain containing 5 p.V607V(1)|p.V792V(1) AAGTGATTGCGACTGCCGTGA 0.338000 23 63 0 0 0.014323 0 0 ANKRD7 56311 broad.mit.edu 37 7 117876904 117876904 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:117876904G>T ENST00000357099.4 + 6 869 c.696G>T c.(694-696)caG>caT p.Q232H ANKRD7_ENST00000265224.4_Missense_Mutation_p.Q212H|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Missense_Mutation_p.Q159H|ANKRD7_ENST00000433239.1_Missense_Mutation_p.Q159H Q92527 ANKR7_HUMAN ankyrin repeat domain 7 212 male gonad development p.Q232H(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1) 29 TTCTTCTTCAGCAAGGTGTGG 0.393000 58 192 5.47352e-35 7.86819e-35 0.014410 1 0 DSCAML1 57453 broad.mit.edu 37 11 117308126 117308126 + Splice_Site SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:117308126C>T ENST00000321322.6 - 26 4614 c.e26-1 DSCAML1_ENST00000527706.1_Splice_Site NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity p.?(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AAGGAGGGCTCTGGCAGGCCG 0.597000 11 50 0 0 0.008291 0 0 SOGA2 23255 broad.mit.edu 37 18 8824821 8824821 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:8824821G>C ENST00000359865.3 + 15 3455 c.3313G>C c.(3313-3315)Gac>Cac p.D1105H SOGA2_ENST00000518815.1_Missense_Mutation_p.D430H|SOGA2_ENST00000306285.7_Missense_Mutation_p.D430H|SOGA2_ENST00000306329.11_Missense_Mutation_p.D1424H|SOGA2_ENST00000517570.1_Missense_Mutation_p.D1064H|SOGA2_ENST00000400050.3_Missense_Mutation_p.D1064H NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1415 p.D1105H(1) GTCTCCAGACGACCTCAAGTA 0.607000 13 42 0 0 0.013537 0 0 AKR1C3 8644 broad.mit.edu 37 10 5141579 5141579 + Missense_Mutation SNP C C T rs35575889 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:5141579C>T ENST00000380554.3 + 5 1160 c.508C>T c.(508-510)Cgc>Tgc p.R170C AKR1C3_ENST00000439082.2_Missense_Mutation_p.R51C|AKR1C3_ENST00000605149.1_Missense_Mutation_p.R147C NM_001253908.1|NM_003739.5 NP_001240837.1|NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1, member C3 170 R -> C (in dbSNP:rs35575889). prostaglandin metabolic process cytoplasm aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity p.R170C(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1) 14 Dimethyl sulfoxide(DB01093)|NADH(DB00157) AAACTTCAACCGCAGGCAGCT 0.512000 33 65 0 0 0.012213 0 0 CELSR1 9620 broad.mit.edu 37 22 46795764 46795764 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr22:46795764G>A ENST00000262738.3 - 10 5261 c.5262C>T c.(5260-5262)caC>caT p.H1754H NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1754 Laminin G-like 2. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.H1754H(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CGGAGGGGCCGTGGGACACCT 0.547000 14 31 0 0 0.028581 0 0 TMEM39B 55116 broad.mit.edu 37 1 32557333 32557333 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:32557333C>G ENST00000456834.2 + 5 575 c.493C>G c.(493-495)Ctt>Gtt p.L165V TMEM39B_ENST00000427288.1_Silent_p.L101L|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000336294.5_Silent_p.L216L|TMEM39B_ENST00000373634.4_Silent_p.L17L Q9GZU3 TM39B_HUMAN transmembrane protein 39B 0 integral to membrane p.L216L(1)|p.L89L(1) endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) AGACAAGCCTCTTCAACCACA 0.627000 9 26 0 0 0.006214 0 0 PIP4K2A 5305 broad.mit.edu 37 10 22828995 22828995 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:22828995T>C ENST00000376573.4 - 9 1273 c.1045A>G c.(1045-1047)Agg>Ggg p.R349G PIP4K2A_ENST00000545335.1_Missense_Mutation_p.R290G|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.R209G NM_005028.4 NP_005019.2 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, alpha 349 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding p.R349G(1) endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 ACCTCCTTCCTAGGCGAGTCT 0.493000 12 113 0 0 0.013537 0 0 RYR3 6263 broad.mit.edu 37 15 34030761 34030761 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:34030761C>T ENST00000389232.4 + 50 7696 c.7626C>T c.(7624-7626)ttC>ttT p.F2542F RYR3_ENST00000415757.3_Silent_p.F2542F NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2542 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.F2542F(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AGAAGCTTTTCTGGGGGATTT 0.473000 OREG0023032 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 60 0 0 0.012319 0 0 WDR36 134430 broad.mit.edu 37 5 110462460 110462460 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:110462460C>T ENST00000506538.2 + 23 3308 c.2735C>T c.(2734-2736)cCa>cTa p.P912L WDR36_ENST00000513710.2_Missense_Mutation_p.P912L NM_139281.2 NP_644810.1 Q8NI36 WDR36_HUMAN WD repeat domain 36 912 response to stimulus|rRNA processing|visual perception small-subunit processome p.P912L(1) cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CCTTCAGAGCCAGTACTCCTA 0.308000 13 66 0 0 0.020292 0 0 MYH4 4622 broad.mit.edu 37 17 10360813 10360813 + Silent SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:10360813A>T ENST00000255381.2 - 16 1931 c.1821T>A c.(1819-1821)acT>acA p.T607T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 607 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.T607T(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCCCCACCACAGTCTCATTCA 0.527000 16 59 0 0 0.024245 0 0 QPCTL 54814 broad.mit.edu 37 19 46198725 46198725 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:46198725G>T ENST00000012049.5 + 3 603 c.382G>T c.(382-384)Gca>Tca p.A128S QPCTL_ENST00000366382.4_Intron NM_017659.3 NP_060129.2 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like 128 Missing (in Ref. 4; AAH11553). peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding p.A128S(1) breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1) 11 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) GTCCCTGACAGCAGGTTGGCA 0.662000 24 76 3.28513e-13 4.39892e-13 0.021523 1 0 OR4K1 79544 broad.mit.edu 37 14 20404200 20404200 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:20404200C>T ENST00000285600.4 + 1 434 c.375C>T c.(373-375)gcC>gcT p.A125A NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A125D(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GATTTATAGCCATATGTAAGC 0.448000 27 191 0 0 0.030593 0 0 KCND3 3752 broad.mit.edu 37 1 112319865 112319865 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:112319865C>G ENST00000369697.1 - 5 1561 c.1492G>C c.(1492-1494)Gag>Cag p.E498Q KCND3_ENST00000315987.2_Missense_Mutation_p.E517Q|KCND3_ENST00000302127.4_Missense_Mutation_p.E498Q Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 517 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding p.E498Q(1) NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CAGTTCTGCTCAAACATCTGC 0.532000 21 150 0 0 0.010504 0 0 CCDC178 374864 broad.mit.edu 37 18 30803079 30803079 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:30803079T>C ENST00000383096.3 - 18 2105 c.1923A>G c.(1921-1923)atA>atG p.I641M CCDC178_ENST00000300227.8_Intron|CCDC178_ENST00000583930.1_Missense_Mutation_p.I641M|CCDC178_ENST00000406524.2_Missense_Mutation_p.I641M|CCDC178_ENST00000579947.1_Missense_Mutation_p.I641M|CCDC178_ENST00000402325.1_Missense_Mutation_p.I641M|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.I641M coiled-coil domain containing 178 p.I641M(1) CCTCAGTTTCTATTAATGCAT 0.259000 5 41 0 0 0.014758 0 0 ABCC9 10060 broad.mit.edu 37 12 22048235 22048235 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:22048235C>A ENST00000261200.4 - 11 1632 c.1633G>T c.(1633-1635)Gca>Tca p.A545S ABCC9_ENST00000345162.2_Missense_Mutation_p.A545S|ABCC9_ENST00000261201.4_Missense_Mutation_p.A545S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 545 ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.A545S(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATGGGAATTGCTGCATTCATG 0.308000 30 86 0.00209593 0.0022514 0.045705 1 0 LRP4 4038 broad.mit.edu 37 11 46914542 46914542 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:46914542G>A ENST00000378623.1 - 13 1921 c.1679C>T c.(1678-1680)gCc>gTc p.A560V NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 560 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity p.A560V(1) 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) GGGATGCAAGGCAATGGCCCG 0.587000 3 9 0 0 0.009096 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255003 9255003 + Missense_Mutation SNP C C G rs148294667 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:9255003C>G ENST00000383440.2 + 8 1926 c.1669C>G c.(1669-1671)Ctt>Gtt p.L557V ANKRD12_ENST00000400020.3_Missense_Mutation_p.L557V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.L580V NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 580 nucleus p.L580V(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 ACAGCCTGATCTTGTTCGGTA 0.333000 22 100 0 0 0.010504 0 0 TEX15 56154 broad.mit.edu 37 8 30694993 30694993 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:30694993G>A ENST00000256246.2 - 3 7732 c.7658C>T c.(7657-7659)tCt>tTt p.S2553F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2553 p.S2553F(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) GGGTTCTGGAGAAGTCATGCA 0.353000 30 78 0 0 0.037714 0 0 OR10G8 219869 broad.mit.edu 37 11 123901236 123901236 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:123901236G>T ENST00000431524.1 + 1 940 c.907G>T c.(907-909)Gac>Tac p.D303Y NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D303Y(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GAAGCTGAAAGACAAAGTAGC 0.448000 11 62 6.40141e-05 7.40518e-05 0.010729 1 0 HHIPL2 79802 broad.mit.edu 37 1 222716993 222716993 + Missense_Mutation SNP C C A rs148477475 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:222716993C>A ENST00000343410.6 - 2 918 c.860G>T c.(859-861)cGc>cTc p.R287L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 287 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding p.R287L(1) NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) ATAGAACTTGCGATTGTGGCG 0.478000 47 188 1.89013e-27 2.68742e-27 0.014410 1 0 TTC5 91875 broad.mit.edu 37 14 20757805 20757805 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:20757805G>T ENST00000258821.3 - 10 1360 c.1304C>A c.(1303-1305)tCg>tAg p.S435* NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 435 DNA repair cytoplasm|nucleus binding p.S435*(1)|p.S435W(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) CTGTGGTCGCGATGCCACTGT 0.567000 6 23 0.00116845 0.00128332 0.021553 1 0 CSF3R 1441 broad.mit.edu 37 1 36939048 36939048 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:36939048G>A ENST00000373103.1 - 6 1208 c.661C>T c.(661-663)Ccc>Tcc p.P221S CSF3R_ENST00000331941.5_Missense_Mutation_p.P221S|CSF3R_ENST00000338937.5_Missense_Mutation_p.P221S|CSF3R_ENST00000373106.1_Missense_Mutation_p.P221S|CSF3R_ENST00000361632.4_Missense_Mutation_p.P221S|CSF3R_ENST00000440588.2_Missense_Mutation_p.P221S|CSF3R_ENST00000373104.1_Missense_Mutation_p.P221S|CSF3R_ENST00000418048.2_Missense_Mutation_p.P221S NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 221 Fibronectin type-III 1. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity p.P221S(2) central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) ACATCCATGGGATCAAGACAC 0.552000 4 35 0 0 0.009096 0 0 CPZ 8532 broad.mit.edu 37 4 8607764 8607764 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:8607764C>A ENST00000382480.2 + 5 1147 c.347C>A c.(346-348)gCg>gAg p.A116E CPZ_ENST00000360986.4_Missense_Mutation_p.A253E|CPZ_ENST00000315782.6_Missense_Mutation_p.A242E|CPZ_ENST00000429646.2_5'UTR NM_001014448.2 NP_001014448.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 253 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.A253V(1)|p.A253E(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AACGAGGTGGCGGGCCGGGAG 0.607000 6 45 8.12818e-05 9.37499e-05 0.029380 1 0 PARD3B 117583 broad.mit.edu 37 2 205829890 205829890 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:205829890G>A ENST00000406610.2 + 3 445 c.238G>A c.(238-240)Gaa>Aaa p.E80K PARD3B_ENST00000351153.1_Missense_Mutation_p.E80K|PARD3B_ENST00000349953.3_Missense_Mutation_p.E80K|PARD3B_ENST00000462231.1_Missense_Mutation_p.E80K|PARD3B_ENST00000358768.2_Missense_Mutation_p.E80K NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 80 cell cycle|cell division endomembrane system|tight junction p.E80K(2)|p.E81K(1) breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGCTGTGTTTGAAGAACAAGA 0.468000 4 24 0 0 0.014758 0 0 HTR1E 3354 broad.mit.edu 37 6 87725133 87725133 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:87725133G>C ENST00000305344.4 + 2 784 c.81G>C c.(79-81)atG>atC p.M27I HTR1E_ENST00000369584.1_Missense_Mutation_p.M27I NM_000865.2 NP_000856.1 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled 27 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity p.M27I(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCATTTGCATGACTCTGGTGG 0.493000 5 34 0 0 0.014758 0 0 CSMD3 114788 broad.mit.edu 37 8 113812417 113812417 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:113812417G>T ENST00000297405.5 - 13 2190 c.1946C>A c.(1945-1947)tCt>tAt p.S649Y CSMD3_ENST00000352409.3_Missense_Mutation_p.S649Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.S545Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.S609Y NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 649 CUB 3. integral to membrane|plasma membrane p.S609Y(1)|p.S649Y(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GAAACCAACAGATCCAACACT 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 17 141 1.37522e-17 1.89335e-17 0.043863 1 0 HELB 92797 broad.mit.edu 37 12 66725408 66725408 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:66725408C>G ENST00000247815.4 + 12 3204 c.3145C>G c.(3145-3147)Cca>Gca p.P1049A NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 1049 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity p.P1049A(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TGATGAAAGTCCAAGCAAAAT 0.363000 11 115 0 0 0.010729 0 0 HIGD2B 123346 broad.mit.edu 37 15 72968456 72968456 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:72968456C>A ENST00000311755.3 - 3 783 c.260G>T c.(259-261)gGc>gTc p.G87V HIG1 hypoxia inducible domain family, member 2B p.G87V(1) AATGGTGAAGCCCTGGGCGGC 0.572000 4 8 0.00909568 0.00956024 0.009096 1 0 NECAB2 54550 broad.mit.edu 37 16 84035950 84035950 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:84035950G>A ENST00000565691.1 + 11 1633 c.911G>A c.(910-912)tGa>tAa p.*304* NECAB2_ENST00000305202.4_Silent_p.*387* Q7Z6G3 NECA2_HUMAN N-terminal EF-hand calcium binding protein 2 0 ABM. antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity|protein binding p.*387*(1) endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 GGACGGGACTGACAGCCTCCC 0.557000 31 86 0 0 0.045705 0 0 GOSR2 9570 broad.mit.edu 37 17 45009464 45009464 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:45009464C>T ENST00000415811.2 + 4 290 c.235C>T c.(235-237)Cac>Tac p.H79Y GOSR2_ENST00000439730.2_Missense_Mutation_p.H79Y|GOSR2_ENST00000393456.2_Missense_Mutation_p.H79Y|GOSR2_ENST00000576910.2_Missense_Mutation_p.H79Y|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.H79Y|GOSR2_ENST00000225567.4_Missense_Mutation_p.H79Y|GOSR2_ENST00000575949.1_Missense_Mutation_p.H79Y NM_001012511.1 NP_001012529.1 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 79 cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity p.Q78_H79>HY(3) kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(9;0.102) TGATGTCCAGCACCTGCAGAC 0.527000 12 121 0 0 0.020292 0 0 VPS8 23355 broad.mit.edu 37 3 184654067 184654067 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:184654067G>T ENST00000437079.3 + 35 3103 c.2932G>T c.(2932-2934)Gag>Tag p.E978* VPS8_ENST00000446204.2_Nonsense_Mutation_p.E886*|VPS8_ENST00000287546.4_Nonsense_Mutation_p.E978*|VPS8_ENST00000436792.2_Nonsense_Mutation_p.E976* NM_001009921.2 NP_001009921.1 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 978 zinc ion binding p.E978*(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TAAAGCTGCGGAGCTGGTTGC 0.398000 6 15 0.0381472 0.0395638 0.038147 1 0 CMAS 55907 broad.mit.edu 37 12 22215287 22215287 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:22215287G>A ENST00000229329.2 + 7 1163 c.1033G>A c.(1033-1035)Gtc>Atc p.V345I NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 345 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity p.V345I(1) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 CAAAATGGAAGTCAGTGTATC 0.383000 16 77 0 0 0.033300 0 0 TSC22D1 8848 broad.mit.edu 37 13 45149716 45149716 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:45149716T>A ENST00000458659.2 - 1 985 c.495A>T c.(493-495)ttA>ttT p.L165F TSC22D1_ENST00000501704.2_Missense_Mutation_p.L165F NM_183422.3 NP_904358.2 Q15714 T22D1_HUMAN TSC22 domain family, member 1 165 transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity p.L165F(1) breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CGGGCTCCCCTAAGTCAGTAG 0.537000 19 51 0 0 0.043863 0 0 KLHL1 57626 broad.mit.edu 37 13 70281786 70281786 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:70281786A>T ENST00000377844.4 - 10 2917 c.2158T>A c.(2158-2160)Tat>Aat p.Y720N KLHL1_ENST00000545028.1_Missense_Mutation_p.Y527N NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 720 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.Y720N(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TGTGGGTCATAGGATTCCATA 0.428000 23 74 0 0 0.018920 0 0 TRIM58 25893 broad.mit.edu 37 1 248028155 248028155 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:248028155T>C ENST00000366481.3 + 3 713 c.665T>C c.(664-666)cTg>cCg p.L222P NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 222 intracellular zinc ion binding p.L222P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AAGAGCCGGCTGGTCCAGCAG 0.692000 4 14 0 0 0.014758 0 0 PIK3R4 30849 broad.mit.edu 37 3 130447403 130447403 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:130447403G>C ENST00000356763.3 - 6 2268 c.1711C>G c.(1711-1713)Cag>Gag p.Q571E NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 571 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.Q571E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 TTGGCTTTCTGACGTCCAAAG 0.368000 9 80 0 0 0.004482 0 0 TRIM41 90933 broad.mit.edu 37 5 180651801 180651801 + Nonsense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:180651801C>T ENST00000315073.5 + 1 1512 c.802C>T c.(802-804)Cag>Tag p.Q268* TRIM41_ENST00000351937.5_Nonsense_Mutation_p.Q268*|CTC-338M12.7_ENST00000499096.2_RNA NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 268 cytoplasm|nucleus ligase activity|protein binding|zinc ion binding p.Q268*(2) NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGAGGTGGTGCAGGAGTACAA 0.542000 10 38 0 0 0.006214 0 0 ZNF449 203523 broad.mit.edu 37 X 134494262 134494262 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:134494262G>T ENST00000339249.4 + 5 958 c.818G>T c.(817-819)tGg>tTg p.W273L NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 273 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.W273L(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GAAAATCAATGGGAAACCCCC 0.418000 17 144 2.35188e-11 3.08586e-11 0.038395 1 0 WASF2 10163 broad.mit.edu 37 1 27742500 27742500 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:27742500C>T ENST00000430629.2 - 5 731 c.516G>A c.(514-516)atG>atA p.M172I WASF2_ENST00000536657.1_Missense_Mutation_p.M172I NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 172 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding p.M172I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TCTTCTCTTTCATGATATCCT 0.473000 12 100 0 0 0.010729 0 0 HTR2A 3356 broad.mit.edu 37 13 47469796 47469796 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:47469796G>T ENST00000378688.4 - 1 377 c.246C>A c.(244-246)gcC>gcA p.A82A HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Silent_p.A82A P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 82 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity p.A82A(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TAATCACTACGGCTGTCAGTA 0.453000 23 78 9.57634e-11 1.23576e-10 0.018920 1 0 FKBP15 23307 broad.mit.edu 37 9 115933898 115933898 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:115933898G>A ENST00000238256.3 - 24 2738 c.2621C>T c.(2620-2622)tCt>tTt p.S874F NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 874 endocytosis|protein folding axon|early endosome actin binding p.S899F(1)|p.S874F(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 TTCAACCCCAGACATCTGGGA 0.458000 3 16 0 0 0.004672 0 0 OR51E2 81285 broad.mit.edu 37 11 4703272 4703272 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:4703272C>A ENST00000396950.3 - 2 909 c.670G>T c.(670-672)Gtt>Ttt p.V224F NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V224F(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGTTGCAGAACCGTTCGTATT 0.493000 9 35 0.000274275 0.000308165 0.004482 1 0 SMC6 79677 broad.mit.edu 37 2 17897451 17897451 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:17897451C>G ENST00000448223.2 - 15 1696 c.1427G>C c.(1426-1428)cGa>cCa p.R476P SMC6_ENST00000402989.1_Missense_Mutation_p.R476P|SMC6_ENST00000381272.4_Missense_Mutation_p.R502P|SMC6_ENST00000351948.4_Missense_Mutation_p.R476P NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 476 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding p.R476P(1) NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TCTTTTGAGTCGATCAGTTTT 0.378000 22 147 0 0 0.021523 0 0 MMP17 4326 broad.mit.edu 37 12 132334445 132334445 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:132334445T>G ENST00000360564.1 + 9 1405 c.1303T>G c.(1303-1305)Ttc>Gtc p.F435V MMP17_ENST00000535004.1_Intron|MMP17_ENST00000535291.1_Missense_Mutation_p.F351V NM_016155.4 NP_057239.4 Q9ULZ9 MMP17_HUMAN matrix metallopeptidase 17 (membrane-inserted) 435 Hemopexin-like 3. proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.F435V(1) endometrium(1)|large_intestine(3)|lung(1) 5 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) CGACGCTGCCTTCTCCTGGGC 0.597000 33 122 0 0 0.019004 0 0 BPTF 2186 broad.mit.edu 37 17 65924679 65924679 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:65924679C>T ENST00000321892.4 + 18 6399 c.6338C>T c.(6337-6339)aCc>aTc p.T2113I BPTF_ENST00000424123.3_Missense_Mutation_p.T1974I|BPTF_ENST00000306378.6_Missense_Mutation_p.T1987I|BPTF_ENST00000335221.5_Missense_Mutation_p.T2113I Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 2113 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding p.T1987I(1)|p.T2113I(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTCATCAAACCTTTGCTACA 0.358000 10 68 0 0 0.010729 0 0 UNG 7374 broad.mit.edu 37 12 109536251 109536251 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:109536251G>C ENST00000336865.2 + 1 329 c.120G>C c.(118-120)aaG>aaC p.K40N UNG_ENST00000242576.2_Missense_Mutation_p.K49N NM_003362.3 NP_003353.1 P13051 UNG_HUMAN uracil-DNA glycosylase 49 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity p.K49N(1)|p.K40N(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 TCCCAGCCAAGAAGGCCCCGG 0.726000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 5 48 0 0 0.014758 0 0 VN1R2 317701 broad.mit.edu 37 19 53762196 53762196 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:53762196A>T ENST00000341702.3 + 1 652 c.568A>T c.(568-570)Acc>Tcc p.T190S NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 190 response to pheromone integral to membrane|plasma membrane pheromone receptor activity p.T190S(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CCAGGTGATCACCATCAACCC 0.488000 12 42 0 0 0.013537 0 0 SNHG14 104472715 broad.mit.edu 37 15 25287155 25287155 + RNA SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:25287155G>T ENST00000552781.1 + 0 328 SNORD109A_ENST00000459128.1_RNA TGAGGATGCTGAGGGACTCAT 0.458000 7 35 0.000274275 0.000308165 0.004482 1 0 RUNX2 860 broad.mit.edu 37 6 45480048 45480048 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:45480048C>G ENST00000371438.1 + 6 1283 c.925C>G c.(925-927)Cag>Gag p.Q309E RUNX2_ENST00000541979.1_Missense_Mutation_p.Q377E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q309E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q309E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q295E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q377E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q309E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q295E NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 309 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.Q309E(1)|p.Q377E(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTACCTGAGCCAGATGACGTC 0.557000 6 68 0 0 0.029380 0 0 DAPK1 1612 broad.mit.edu 37 9 90255223 90255223 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:90255223G>C ENST00000469640.2 + 8 1015 c.640G>C c.(640-642)Gcc>Ccc p.A214P DAPK1_ENST00000408954.3_Missense_Mutation_p.A214P|DAPK1_ENST00000358077.5_Missense_Mutation_p.A214P|DAPK1_ENST00000491893.1_Missense_Mutation_p.A214P|DAPK1_ENST00000472284.1_Missense_Mutation_p.A214P P53355 DAPK1_HUMAN death-associated protein kinase 1 214 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.A214P(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCTAAGTGGGGCCTCCCCATT 0.413000 Chronic Lymphocytic Leukemia, Familial Clustering of 25 75 0 0 0.030593 0 0 OR8K3 219473 broad.mit.edu 37 11 56086504 56086504 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:56086504G>T ENST00000312711.1 + 1 722 c.722G>T c.(721-723)gGa>gTa p.G241V NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G241V(1) central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCTACCTGTGGAGCCCACCTG 0.443000 9 53 5.4927e-09 6.95031e-09 0.004482 1 0 DSC1 1823 broad.mit.edu 37 18 28714744 28714744 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:28714744C>G ENST00000257197.3 - 12 1928 c.1667G>C c.(1666-1668)gGc>gCc p.G556A RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.G556A NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 556 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.G556A(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) GCAAGATCGGCCAACTAAGAT 0.323000 3 23 0 0 0.004672 0 0 MTBP 27085 broad.mit.edu 37 8 121457668 121457668 + Translation_Start_Site SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:121457668T>A ENST00000305949.1 + 0 3 NM_022045.3 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) TCTGTTTGGATGTGGAAGCCG 0.557000 11 97 0 0 0.020292 0 0 NR2C1 7181 broad.mit.edu 37 12 95445612 95445612 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:95445612C>T ENST00000333003.5 - 8 1221 c.891G>A c.(889-891)atG>atA p.M297I NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.M297I|NR2C1_ENST00000330677.7_Missense_Mutation_p.M297I NM_003297.3 NP_003288.2 P13056 NR2C1_HUMAN nuclear receptor subfamily 2, group C, member 1 297 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor PML body sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1) 13 AGCTTTCAATCATAGACATTT 0.338000 9 65 0 0 0.010729 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611772 42611772 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:42611772G>A ENST00000276410.2 - 5 925 c.570C>T c.(568-570)atC>atT p.I190I CHRNA6_ENST00000534622.1_Silent_p.I175I NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 190 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.I190I(1) endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) TTGATCCAATGATTAGAAGAT 0.373000 43 109 0 0 0.030466 0 0 NLRP14 338323 broad.mit.edu 37 11 7059931 7059931 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:7059931G>A ENST00000299481.4 + 2 460 c.114G>A c.(112-114)atG>atA p.M38I NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 38 DAPIN. cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.M38I(2)|p.M38_E39>I*(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGGAGACCATGGAACCTGAGC 0.433000 7 60 0 0 0.016723 0 0 OR5W2 390148 broad.mit.edu 37 11 55681794 55681794 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:55681794T>C ENST00000344514.1 - 1 264 c.265A>G c.(265-267)Aac>Gac p.N89D NM_001001960.1 NP_001001960.1 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, member 2 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N89D(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATTGACTTGTTCTTGGCAAGT 0.448000 17 55 0 0 0.033300 0 0 KCNK15 60598 broad.mit.edu 37 20 43378982 43378982 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:43378982G>C ENST00000372861.3 + 2 627 c.496G>C c.(496-498)Gcg>Ccg p.A166P NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 166 integral to membrane potassium channel activity|voltage-gated ion channel activity p.A166P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) CGGGCTGCTGGCGTGTGCCGC 0.687000 2 12 0 0 0.004672 0 0 CD80 941 broad.mit.edu 37 3 119248738 119248738 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:119248738A>G ENST00000264246.3 - 5 1109 c.747T>C c.(745-747)atT>atC p.I249I CD80_ENST00000383669.3_Intron|CD80_ENST00000383668.3_Intron|CD80_ENST00000478182.1_Silent_p.I249I NM_005191.3 NP_005182.1 P33681 CD80_HUMAN CD80 molecule 249 interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding p.I249I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 12 Abatacept(DB01281) AGATTAAGGTAATGGCCCAGG 0.403000 9 85 0 0 0.010729 0 0 IGF2R 3482 broad.mit.edu 37 6 160477509 160477509 + Nonsense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:160477509G>A ENST00000356956.1 + 20 2896 c.2748G>A c.(2746-2748)tgG>tgA p.W916* NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 916 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity p.W916*(1) breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTTTCCTGTGGAACACAGAGG 0.522000 8 75 0 0 0.004482 0 0 OGDHL 55753 broad.mit.edu 37 10 50944528 50944528 + Missense_Mutation SNP C C T rs140281439 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:50944528C>T ENST00000374103.4 - 21 2714 c.2629G>A c.(2629-2631)Gca>Aca p.A877T OGDHL_ENST00000432695.1_Missense_Mutation_p.A668T|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.A820T NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 877 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.A877T(1) central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GCCCGTGCTGCGGCCCCATCT 0.632000 15 45 0 0 0.024245 0 0 GPRC6A 222545 broad.mit.edu 37 6 117127977 117127977 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:117127977C>T ENST00000310357.3 - 3 912 c.891G>A c.(889-891)aaG>aaA p.K297K GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Silent_p.K297K NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 297 response to amino acid stimulus G-protein coupled receptor activity p.K297K(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CAATCCACATCTTATTTATAT 0.348000 15 98 0 0 0.020292 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431656 233431656 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:233431656G>T ENST00000409514.1 + 5 535 c.493G>T c.(493-495)Gag>Tag p.E165* EIF4E2_ENST00000409167.3_Nonsense_Mutation_p.E120*|EIF4E2_ENST00000409098.1_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000258416.3_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000409394.1_Nonsense_Mutation_p.E120*|EIF4E2_ENST00000409495.1_Nonsense_Mutation_p.E165*|EIF4E2_ENST00000409322.1_Nonsense_Mutation_p.E120* O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 165 regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding p.E165*(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGTTGGGGAGGAGATCTGTGG 0.567000 8 63 3.09899e-07 3.76305e-07 0.004482 1 0 ENAM 10117 broad.mit.edu 37 4 71510242 71510242 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:71510242C>G ENST00000396073.3 + 9 3380 c.3099C>G c.(3097-3099)atC>atG p.I1033M ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 1033 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel p.I1033M(1) haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CAGAAGGCATCCAAAGTCAAG 0.428000 24 69 0 0 0.016522 0 0 TIMELESS 8914 broad.mit.edu 37 12 56824676 56824676 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:56824676C>A ENST00000229201.4 - 9 1049 c.895G>T c.(895-897)Ggc>Tgc p.G299C TIMELESS_ENST00000554616.1_Missense_Mutation_p.G300C|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G300C NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 300 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin p.G300C(1) NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TTGTGAAGGCCTTTGTGAAAG 0.473000 48 232 5.13769e-22 7.25211e-22 0.014410 1 0 DGKH 160851 broad.mit.edu 37 13 42780201 42780201 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:42780201C>T ENST00000379274.2 + 21 2541 c.2112C>T c.(2110-2112)ccC>ccT p.P704P DGKH_ENST00000538674.1_Silent_p.P595P|DGKH_ENST00000536612.1_Silent_p.P704P|DGKH_ENST00000540693.1_Silent_p.P840P|DGKH_ENST00000337343.4_Silent_p.P840P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Silent_p.P840P Q86XP1 DGKH_HUMAN diacylglycerol kinase, eta 840 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization endosome|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.P840P(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109) TTCCTCTTCCCAGCTTGCAAG 0.388000 14 50 0 0 0.020292 0 0 ISLR2 57611 broad.mit.edu 37 15 74426491 74426491 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:74426491C>G ENST00000361742.3 + 4 2165 c.1396C>G c.(1396-1398)Cgg>Ggg p.R466G ISLR2_ENST00000435464.1_Missense_Mutation_p.R466G|ISLR2_ENST00000445793.1_Missense_Mutation_p.R466G|ISLR2_ENST00000565159.1_Missense_Mutation_p.R466G|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.R466G|ISLR2_ENST00000419208.1_Missense_Mutation_p.R466G|ISLR2_ENST00000565540.1_Missense_Mutation_p.R466G NM_001130136.1|NM_020851.2 NP_001123608.1|NP_065902.1 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing leucine-rich repeat 2 466 positive regulation of axon extension cell surface|integral to membrane|plasma membrane p.R466G(1) breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 GGACCCCTCTCGGTACGTTTC 0.672000 4 13 0 0 0.014758 0 0 SH2D3C 10044 broad.mit.edu 37 9 130536661 130536661 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:130536661C>A ENST00000314830.8 - 2 236 c.123G>T c.(121-123)agG>agT p.R41S NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 41 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.R41S(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 AATGGGACTGCCTACTGATGG 0.557000 9 33 0.000274275 0.000308165 0.004482 1 0 C7 730 broad.mit.edu 37 5 40958273 40958273 + Missense_Mutation SNP A A C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:40958273A>C ENST00000313164.9 + 11 1758 c.1399A>C c.(1399-1401)Act>Cct p.T467P NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 467 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.T467P(1) Ovarian(839;0.0112) TGGTTTGGCTACTGTTGAGGG 0.502000 20 84 0 0 0.014323 0 0 LGALS13 29124 broad.mit.edu 37 19 40095887 40095887 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:40095887C>T ENST00000221797.4 + 3 207 c.162C>T c.(160-162)ttC>ttT p.F54F NM_013268.2 NP_037400.1 Q9UHV8 PP13_HUMAN lectin, galactoside-binding, soluble, 13 54 Galectin. lipid catabolic process|phospholipid metabolic process carboxylesterase activity|lysophospholipase activity|sugar binding p.F54F(1) lung(5)|ovary(1)|urinary_tract(1) 7 all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116) Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281) CCTTCCGTTTCCGAGTGCACT 0.502000 15 42 0 0 0.024245 0 0 OR4K15 81127 broad.mit.edu 37 14 20444178 20444178 + Silent SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:20444178G>C ENST00000305051.5 + 1 576 c.501G>C c.(499-501)gtG>gtC p.V167V NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V167V(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) TATGTGTTGTGCTCGTCCTCA 0.453000 38 117 0 0 0.017118 0 0 LCE2A 353139 broad.mit.edu 37 1 152671410 152671410 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:152671410G>T ENST00000368779.1 + 2 84 c.33G>T c.(31-33)caG>caT p.Q11H NM_178428.3 NP_848515.1 Q5TA79 LCE2A_HUMAN late cornified envelope 2A 11 Cys-rich. keratinization p.Q11H(1) breast(1)|large_intestine(1)|liver(2)|lung(4) 8 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCAGTGCCAGCCCCCTCCCA 0.547000 13 40 0.00316338 0.00335198 0.024245 1 0 PJA1 64219 broad.mit.edu 37 X 68381955 68381955 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:68381955C>T ENST00000361478.1 - 2 1504 c.1127G>A c.(1126-1128)cGt>cAt p.R376H PJA1_ENST00000374571.4_Missense_Mutation_p.R321H|PJA1_ENST00000374583.1_Missense_Mutation_p.R376H|PJA1_ENST00000374584.3_Missense_Mutation_p.R188H NM_001032396.2|NM_022368.4|NM_145119.3 NP_001027568.1|NP_071763.2|NP_660095.1 Q8NG27 PJA1_HUMAN praja ring finger 1, E3 ubiquitin protein ligase 376 zinc ion binding p.R376H(1)|p.R188H(1) endometrium(3)|large_intestine(5)|lung(12)|ovary(1) 21 ATATTTCCGACGCAGAGCAGC 0.552000 5 53 0 0 0.021553 0 0 GRIN2B 2904 broad.mit.edu 37 12 13906605 13906605 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:13906605T>A ENST00000279593.3 - 3 865 c.656A>T c.(655-657)cAg>cTg p.Q219L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 219 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.Q219L(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTTCTTGAGCTGATTCTGGAT 0.488000 13 118 0 0 0.016723 0 0 FAM171B 165215 broad.mit.edu 37 2 187626606 187626606 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:187626606A>G ENST00000304698.5 + 8 1740 c.1537A>G c.(1537-1539)Agg>Ggg p.R513G NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 513 integral to membrane DNA binding p.R513G(1) NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGATGAAAAGAGGTATCTCAC 0.423000 18 43 0 0 0.033300 0 0 STPG1 90529 broad.mit.edu 37 1 24706266 24706266 + Silent SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:24706266T>C ENST00000374409.1 - 5 593 c.339A>G c.(337-339)gcA>gcG p.A113A STPG1_ENST00000003583.8_Silent_p.A66A|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000337248.4_Silent_p.A113A|STPG1_ENST00000440416.1_Silent_p.A66A NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 p.A113A(1)|p.A66A(1) GGATAGTGTATGCATTCGCTG 0.413000 21 65 0 0 0.012319 0 0 TMEM214 54867 broad.mit.edu 37 2 27261663 27261663 + Missense_Mutation SNP A A C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:27261663A>C ENST00000238788.9 + 12 1449 c.1387A>C c.(1387-1389)Acc>Ccc p.T463P TMEM214_ENST00000404032.3_Missense_Mutation_p.T418P NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 463 integral to membrane protein binding p.T463P(1) kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGATGTCGTCACCTGTGACAT 0.537000 3 18 0 0 0.021553 0 0 GTPBP3 84705 broad.mit.edu 37 19 17452041 17452041 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:17452041C>T ENST00000324894.8 + 8 1231 c.1163C>T c.(1162-1164)cCt>cTt p.P388L GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000600625.1_Missense_Mutation_p.P367L|GTPBP3_ENST00000358792.7_Missense_Mutation_p.P420L|GTPBP3_ENST00000361619.5_Missense_Mutation_p.P410L NM_032620.3|NM_133644.3 NP_116009.2|NP_598399.2 Q969Y2 GTPB3_HUMAN GTP binding protein 3 (mitochondrial) 388 tRNA modification mitochondrion GTP binding|GTPase activity p.P420L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 18 GGTCCCGGTCCTGACCTGCCC 0.697000 10 13 0 0 0.006214 0 0 PTH2R 5746 broad.mit.edu 37 2 209358129 209358129 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:209358129G>T ENST00000272847.2 + 13 1611 c.1398G>T c.(1396-1398)gcG>gcT p.A466A AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 466 integral to plasma membrane parathyroid hormone receptor activity p.A466A(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) CACAGGTGGCGGCCAGCACAC 0.592000 5 12 0.000602214 0.000670843 0.014758 1 0 TSPAN11 441631 broad.mit.edu 37 12 31132538 31132538 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:31132538T>A ENST00000261177.9 + 5 448 c.389T>A c.(388-390)cTg>cAg p.L130Q TSPAN11_ENST00000535215.1_Missense_Mutation_p.L59Q|TSPAN11_ENST00000544427.1_Missense_Mutation_p.L120Q|TSPAN11_ENST00000546076.1_Missense_Mutation_p.L130Q NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 130 integral to membrane p.L130Q(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) AACCGGACTCTGGCTGAGAAC 0.627000 7 73 0 0 0.004482 0 0 DNAH7 56171 broad.mit.edu 37 2 196849397 196849397 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:196849397G>C ENST00000312428.6 - 15 1892 c.1792C>G c.(1792-1794)Ctt>Gtt p.L598V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 598 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.L598V(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 GGAGTGCTAAGAGCTTTTTCA 0.303000 12 82 0 0 0.013537 0 0 ASAP2 8853 broad.mit.edu 37 2 9525441 9525441 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:9525441A>T ENST00000281419.3 + 21 2424 c.2084A>T c.(2083-2085)cAc>cTc p.H695L ASAP2_ENST00000315273.4_Missense_Mutation_p.H695L NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 695 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding p.H695L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 CGACTACTCCACGAAGACCTG 0.458000 4 47 0 0 0.009096 0 0 ARSA 410 broad.mit.edu 37 22 51065403 51065403 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr22:51065403G>A ENST00000547307.1 - 3 942 c.537C>T c.(535-537)atC>atT p.I179I ARSA_ENST00000547805.1_Silent_p.I179I|ARSA_ENST00000453344.2_Silent_p.I95I|ARSA_ENST00000395619.3_Silent_p.I181I|ARSA_ENST00000395621.3_Silent_p.I181I|ARSA_ENST00000356098.5_Silent_p.I181I|ARSA_ENST00000216124.5_Silent_p.I181I P15289 ARSA_HUMAN arylsulfatase A 179 I -> S (in MLD; mild). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity p.I179I(1) endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) Micafungin(DB01141) CCAACAGTGGGATGGGGACCA 0.701000 16 37 0 0 0.024245 0 0 SLC16A2 6567 broad.mit.edu 37 X 73740833 73740833 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:73740833G>T ENST00000276033.5 + 2 827 c.661G>T c.(661-663)Gga>Tga p.G221* SLC16A2_ENST00000587091.1_Nonsense_Mutation_p.G147* P36021 MOT8_HUMAN solute carrier family 16, member 2 (thyroid hormone transporter) 147 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity p.G221R(1)|p.G221*(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 21 Pyruvic acid(DB00119) AGCATGGGTCGGAGCCCTCGC 0.522000 8 80 0.00307968 0.00327216 0.038147 1 0 SP3 6670 broad.mit.edu 37 2 174820362 174820362 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:174820362T>A ENST00000310015.6 - 4 1408 c.878A>T c.(877-879)gAc>gTc p.D293V SP3_ENST00000418194.2_Missense_Mutation_p.D225V|SP3_ENST00000455789.2_Missense_Mutation_p.D240V NM_001172712.1|NM_003111.4 NP_001166183.1|NP_003102.1 Q02447 SP3_HUMAN Sp3 transcription factor 293 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding p.D293V(1) EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CAAATGTCCGTCGGCATTAAT 0.418000 25 146 0 0 0.027356 0 0 C10orf71 118461 broad.mit.edu 37 10 50531291 50531291 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:50531291G>T ENST00000374144.3 + 3 989 c.701G>T c.(700-702)aGc>aTc p.S234I C10orf71_ENST00000323868.4_Missense_Mutation_p.S234I Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 234 p.S234I(2) endometrium(1) 1 GGCTCCAGCAGCTTCCTCCCA 0.567000 7 7 0.00198382 0.00213684 0.029380 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147027952 147027952 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:147027952T>G ENST00000265272.5 - 5 1390 c.923A>C c.(922-924)gAa>gCa p.E308A JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E266A|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E308A NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 308 Golgi apparatus p.E308A(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCATTTCGTTCATCTCCAAG 0.299000 33 109 0 0 0.012213 0 0 CDH15 1013 broad.mit.edu 37 16 89245841 89245841 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:89245841G>T ENST00000289746.2 + 2 125 c.60G>T c.(58-60)ttG>ttT p.L20F CDH15_ENST00000521087.1_3'UTR NM_004933.2 NP_004924.1 P55291 CAD15_HUMAN cadherin 15, type 1, M-cadherin (myotubule) 20 adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding p.L20F(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.0261) GCCTGTCTTTGGGGGTTCCTG 0.687000 13 54 2.32078e-09 2.95579e-09 0.024245 1 0 FRMD7 90167 broad.mit.edu 37 X 131231335 131231335 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:131231335A>T ENST00000298542.4 - 4 418 c.243T>A c.(241-243)ttT>ttA p.F81L FRMD7_ENST00000464296.1_Intron NM_194277.2 NP_919253.1 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 81 FERM. regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding p.F81L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Acute lymphoblastic leukemia(192;0.000127) CCACTGGGAAAAATTTCACCA 0.348000 32 266 0 0 0.021022 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881443 33881443 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:33881443C>A ENST00000504830.1 - 2 605 c.270G>T c.(268-270)tgG>tgT p.W90C ADAMTS12_ENST00000515401.1_Missense_Mutation_p.W90C|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W90C NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 90 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.W90C(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGTAGTACACCCAGTCCTCTG 0.453000 HNSCC(64;0.19) 38 123 5.59293e-11 7.28945e-11 0.027894 1 0 MIR129-1 406917 broad.mit.edu 37 7 127847991 127847991 + RNA SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:127847991G>T ENST00000384972.1 + 0 68 NR_029596.1 ACCCCAAAAAGTATCTGCGGG 0.577000 3 11 2.56e-06 3.05171e-06 0.009096 1 0 EMILIN1 11117 broad.mit.edu 37 2 27305857 27305857 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:27305857G>A ENST00000380320.4 + 4 1917 c.1418G>A c.(1417-1419)gGg>gAg p.G473E NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 473 cell adhesion collagen p.G473E(1) breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGTGGCAGGGGCCATGCAG 0.687000 3 12 0 0 0.004672 0 0 COMP 1311 broad.mit.edu 37 19 18893990 18893990 + Missense_Mutation SNP C C T rs71769201 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:18893990C>T ENST00000542601.2 - 17 2391 c.2002G>A c.(2002-2004)Gag>Aag p.E668K COMP_ENST00000425807.1_Missense_Mutation_p.E648K|COMP_ENST00000222271.2_Missense_Mutation_p.E701K P49747 COMP_HUMAN cartilage oligomeric matrix protein 701 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding p.E701K(1) breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TCAGGGCCCTCATAGAATCGC 0.622000 6 25 0 0 0.021553 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891556 2891556 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:2891556C>T ENST00000254528.3 + 4 1590 c.1431C>T c.(1429-1431)ggC>ggT p.G477G NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 477 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.G477G(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CCCTTCGGGGCGCCATTAATG 0.458000 24 88 0 0 0.024334 0 0 PTPRT 11122 broad.mit.edu 37 20 40944397 40944397 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:40944397C>G ENST00000373198.3 - 12 2340 c.2105G>C c.(2104-2106)aGc>aCc p.S702T PTPRT_ENST00000373184.1_Missense_Mutation_p.S702T|PTPRT_ENST00000373190.1_Missense_Mutation_p.S702T|PTPRT_ENST00000373201.1_Missense_Mutation_p.S702T|PTPRT_ENST00000356100.2_Missense_Mutation_p.S702T|PTPRT_ENST00000373193.3_Missense_Mutation_p.S702T|PTPRT_ENST00000373187.1_Missense_Mutation_p.S702T NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 702 Fibronectin type-III 4. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.S702T(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GAAGTAGATGCTGTAGCTTTT 0.473000 8 52 0 0 0.038147 0 0 SLC22A16 85413 broad.mit.edu 37 6 110752419 110752419 + Silent SNP C C A rs140728757 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:110752419C>A ENST00000368919.3 - 7 1542 c.1476G>T c.(1474-1476)gcG>gcT p.A492A SLC22A16_ENST00000330550.4_Silent_p.A458A|SLC22A16_ENST00000439654.1_Silent_p.A492A NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 492 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity p.A492A(1) breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) CAGAGAACGGCGCCAGGATGC 0.572000 9 47 4.68919e-08 5.74756e-08 0.008291 1 0 P2RY10 27334 broad.mit.edu 37 X 78216921 78216921 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:78216921C>A ENST00000171757.2 + 4 1184 c.904C>A c.(904-906)Cca>Aca p.P302T P2RY10_ENST00000544091.1_Missense_Mutation_p.P302T NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 302 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P302K(1)|p.P302A(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCTTTTGGATCCAATTCTTTA 0.493000 22 183 1.42536e-11 1.87648e-11 0.024334 1 0 WBSCR17 64409 broad.mit.edu 37 7 71134995 71134995 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:71134995A>G ENST00000333538.5 + 8 1939 c.1305A>G c.(1303-1305)agA>agG p.R435R WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 435 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R435R(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCGAAAGAAGAGCATTAAGGA 0.468000 11 106 0 0 0.010729 0 0 USF2 7392 broad.mit.edu 37 19 35761683 35761683 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:35761683G>T ENST00000222305.3 + 6 680 c.643G>T c.(643-645)Gcc>Tcc p.A215S USF2_ENST00000594064.1_Missense_Mutation_p.A213S|USF2_ENST00000595068.1_Missense_Mutation_p.A215S|USF2_ENST00000379134.3_Missense_Mutation_p.A84S|USF2_ENST00000343550.5_Missense_Mutation_p.A148S NM_003367.2 NP_003358.1 Q15853 USF2_HUMAN upstream transcription factor 2, c-fos interacting 215 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity p.A215S(1) central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1) 13 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) GAGGACGATCGCCCCCCGGAC 0.592000 10 71 4.36969e-10 5.6018e-10 0.016723 1 0 HIVEP3 59269 broad.mit.edu 37 1 42049869 42049869 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:42049869G>T ENST00000372584.1 - 3 1614 c.600C>A c.(598-600)ccC>ccA p.P200P HIVEP3_ENST00000372583.1_Silent_p.P200P|HIVEP3_ENST00000429157.2_Silent_p.P200P|HIVEP3_ENST00000247584.5_Silent_p.P200P NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 200 ZAS1. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.P200P(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCTTGGCACAGGGCCGGCTGC 0.597000 6 83 3.59834e-05 4.17492e-05 0.021553 1 0 SCG2 7857 broad.mit.edu 37 2 224462659 224462659 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:224462659G>C ENST00000305409.2 - 2 1574 c.1342C>G c.(1342-1344)Cag>Gag p.Q448E NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 448 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.Q448E(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GACGTTTTCTGATTTGCTGCA 0.478000 5 141 0 0 0.021553 0 0 ARAP2 116984 broad.mit.edu 37 4 36134867 36134867 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:36134867T>C ENST00000303965.4 - 20 3897 c.3408A>G c.(3406-3408)atA>atG p.I1136M NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1136 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.I1136M(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TAACAAATGCTATACAGCTGT 0.378000 4 65 0 0 0.009096 0 0 ITIH2 3698 broad.mit.edu 37 10 7751045 7751045 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:7751045A>G ENST00000358415.4 + 4 419 c.253A>G c.(253-255)Atg>Gtg p.M85V ITIH2_ENST00000379587.4_Missense_Mutation_p.M74V|ITIH2_ENST00000480387.1_Intron NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 85 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.M85V(1) NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TACTTCTCGGATGGCCACCAC 0.418000 30 130 0 0 0.045705 0 0 GRIK5 2901 broad.mit.edu 37 19 42557843 42557843 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:42557843T>A ENST00000262895.3 - 10 1179 c.1180A>T c.(1180-1182)Aac>Tac p.N394Y GRIK5_ENST00000593562.1_Missense_Mutation_p.N394Y|GRIK5_ENST00000301218.4_Missense_Mutation_p.N394Y NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 394 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.N394Y(2) breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) AGGGTGCGGTTAGAGTACCAC 0.637000 10 52 0 0 0.010729 0 0 ZNF600 162966 broad.mit.edu 37 19 53269696 53269696 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:53269696C>A ENST00000338230.3 - 3 1580 c.1313G>T c.(1312-1314)gGa>gTa p.G438V NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G438V(1) breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AGGTTGCTCTCCAGTATGAAT 0.358000 22 120 0.000175454 0.000201181 0.010504 1 0 CNTN1 1272 broad.mit.edu 37 12 41327314 41327314 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:41327314A>G ENST00000551295.2 + 8 872 c.755A>G c.(754-756)tAt>tGt p.Y252C CNTN1_ENST00000360099.3_Missense_Mutation_p.Y252C|CNTN1_ENST00000348761.2_Missense_Mutation_p.Y241C|CNTN1_ENST00000547702.1_Missense_Mutation_p.Y252C|CNTN1_ENST00000547849.1_Missense_Mutation_p.Y252C|CNTN1_ENST00000347616.1_Missense_Mutation_p.Y252C NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 252 Ig-like C2-type 3. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane p.Y252F(1)|p.Y252C(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AAGGATGTATATGCATTGATG 0.303000 27 129 0 0 0.012213 0 0 SPPL2C 162540 broad.mit.edu 37 17 43923137 43923137 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:43923137G>T ENST00000329196.5 + 1 882 c.865G>T c.(865-867)Gct>Tct p.A289S MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 289 integral to membrane aspartic-type endopeptidase activity p.A289S(1) TGGCCTGGGTGCTGGCATTGG 0.607000 21 91 1.22574e-08 1.54104e-08 0.014323 1 0 ITPR3 3710 broad.mit.edu 37 6 33627307 33627307 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:33627307T>A ENST00000374316.5 + 8 1752 c.692T>A c.(691-693)cTg>cAg p.L231Q ITPR3_ENST00000605930.1_Missense_Mutation_p.L231Q Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 231 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding p.L231Q(2) NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CGGGACCACCTGGAGGAGGTG 0.607000 17 41 0 0 0.038395 0 0 FLNA 2316 broad.mit.edu 37 X 153588197 153588197 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:153588197C>A ENST00000422373.1 - 23 4130 c.3882G>T c.(3880-3882)aaG>aaT p.K1294N FLNA_ENST00000344736.4_Missense_Mutation_p.K1294N|FLNA_ENST00000369850.3_Missense_Mutation_p.K1294N|FLNA_ENST00000360319.4_Missense_Mutation_p.K1294N NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1294 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.K1294N(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCACACGGGCCTTGACGTGCG 0.622000 7 62 0.00198382 0.00213684 0.029380 1 0 TSC2 7249 broad.mit.edu 37 16 2104434 2104434 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:2104434A>G ENST00000219476.3 + 5 1104 c.474A>G c.(472-474)gaA>gaG p.E158E TSC2_ENST00000439673.2_Silent_p.E121E|TSC2_ENST00000568454.1_Silent_p.E169E|TSC2_ENST00000382538.6_Silent_p.E109E|TSC2_ENST00000353929.4_Silent_p.E158E|TSC2_ENST00000350773.4_Silent_p.E158E|TSC2_ENST00000401874.2_Silent_p.E158E NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 158 Required for interaction with TSC1. 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 p.E158E(2) 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) ACTTGGAGGAAGAGCTGGGTG 0.557000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 9 61 0 0 0.006214 0 0 INSIG2 51141 broad.mit.edu 37 2 118860815 118860815 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:118860815G>C ENST00000245787.4 + 3 493 c.287G>C c.(286-288)gGa>gCa p.G96A INSIG2_ENST00000485520.1_3'UTR NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 96 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex p.G96S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 AGACATCTAGGAGAACCACAT 0.383000 28 148 0 0 0.034045 0 0 DLC1 10395 broad.mit.edu 37 8 13357118 13357118 + Missense_Mutation SNP G G T rs150963046 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:13357118G>T ENST00000276297.4 - 2 872 c.463C>A c.(463-465)Caa>Aaa p.Q155K DLC1_ENST00000316609.5_Missense_Mutation_p.Q155K|DLC1_ENST00000511869.1_Missense_Mutation_p.Q155K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 155 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.Q155K(3) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 TGGTTACTTTGTATGATGGGC 0.413000 12 227 0.000219431 0.00025087 0.020292 1 0 UNCX 340260 broad.mit.edu 37 7 1273285 1273285 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:1273285G>T ENST00000316333.8 + 2 515 c.404G>T c.(403-405)cGc>cTc p.R135L NM_001080461.1 NP_001073930.1 A6NJT0 UNC4_HUMAN UNC homeobox 135 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R135L(1) lung(2)|skin(1)|upper_aerodigestive_tract(1) 4 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GTGTTCATGCGCGAGGCGCTG 0.677000 6 20 3.59834e-05 4.17492e-05 0.021553 1 0 ASTN2 23245 broad.mit.edu 37 9 119382627 119382627 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:119382627G>A ENST00000313400.4 - 18 3268 c.3168C>T c.(3166-3168)gcC>gcT p.A1056A ASTN2_ENST00000358637.4_Silent_p.A108A|ASTN2_ENST00000373996.3_Silent_p.A1052A|ASTN2_ENST00000341734.4_Silent_p.A108A|ASTN2_ENST00000288520.5_Silent_p.A157A|ASTN2_ENST00000361477.3_Silent_p.A108A|ASTN2_ENST00000361209.2_Silent_p.A1005A O75129 ASTN2_HUMAN astrotactin 2 1056 integral to membrane p.A108A(1)|p.A1005A(1) breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGAGCCCATTGGCATCAAAGG 0.562000 23 79 0 0 0.018920 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098947 220098947 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:220098947A>G ENST00000323348.5 + 9 1315 c.1141A>G c.(1141-1143)Ata>Gta p.I381V ANKZF1_ENST00000409849.1_Missense_Mutation_p.I171V|ANKZF1_ENST00000410034.3_Missense_Mutation_p.I381V NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 381 intracellular zinc ion binding p.I381V(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAGGAAGAAATAAGAAAGAT 0.468000 7 64 0 0 0.029380 0 0 GNG11 2791 broad.mit.edu 37 7 93555449 93555449 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:93555449C>A ENST00000248564.4 + 2 582 c.143C>A c.(142-144)tCt>tAt p.S48Y NM_004126.3 NP_004117.1 P61952 GBG11_HUMAN guanine nucleotide binding protein (G protein), gamma 11 48 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway heterotrimeric G-protein complex GTPase activity|signal transducer activity p.S48Y(1) breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1) 6 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) GAAGAACGTTCTGGAGAGGAT 0.333000 14 92 1.3612e-06 1.63763e-06 0.024245 1 0 UGT2B10 7365 broad.mit.edu 37 4 69692148 69692148 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:69692148G>T ENST00000265403.7 + 4 1047 c.1020G>T c.(1018-1020)ggG>ggT p.G340G UGT2B10_ENST00000458688.2_Silent_p.G256G NM_001075.4 NP_001066.1 P36537 UDB10_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B10 340 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.G340G(2) endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 GATTTGATGGGAATAAACCAG 0.363000 22 83 2.89027e-11 3.77958e-11 0.014323 1 0 DGKG 1608 broad.mit.edu 37 3 185970902 185970902 + Missense_Mutation SNP C C T rs148285460 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:185970902C>T ENST00000265022.3 - 18 2119 c.1580G>A c.(1579-1581)cGt>cAt p.R527H DGKG_ENST00000544847.1_Missense_Mutation_p.R468H|DGKG_ENST00000344484.4_Missense_Mutation_p.R502H|DGKG_ENST00000382164.4_Missense_Mutation_p.R488H NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 527 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.R527H(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GCGGAGACAACGGGCAAGGTC 0.517000 23 62 0 0 0.030593 0 0 SEMA5A 9037 broad.mit.edu 37 5 9226985 9226985 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:9226985C>A ENST00000382496.5 - 7 1093 c.428G>T c.(427-429)cGc>cTc p.R143L NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 143 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.R143L(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CCATACCGAGCGGTTGGTGCA 0.443000 15 33 7.93312e-07 9.57361e-07 0.020292 1 0 DOPEY2 9980 broad.mit.edu 37 21 37584329 37584329 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr21:37584329G>T ENST00000399151.3 + 7 923 c.838G>T c.(838-840)Gcc>Tcc p.A280S DOPEY2_ENST00000492760.1_3'UTR NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 280 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane p.A280S(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CATTCTCTCAGCCGCCACCCA 0.478000 15 72 3.27435e-08 4.03871e-08 0.020292 1 0 NRK 203447 broad.mit.edu 37 X 105181473 105181473 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:105181473T>A ENST00000428173.2 + 22 4004 c.3701T>A c.(3700-3702)aTg>aAg p.M1234K NRK_ENST00000243300.9_Missense_Mutation_p.M1233K Q7Z2Y5 NRK_HUMAN Nik related kinase 1233 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.M1233K(1)|p.M1234K(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CTATATCTGATGGACAGAAGT 0.368000 HNSCC(51;0.14) 3 24 0 0 0.004672 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135825773 135825773 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:135825773C>A ENST00000250617.6 - 5 1837 c.632G>T c.(631-633)aGt>aTt p.S211I ARHGEF6_ENST00000535227.1_Missense_Mutation_p.S57I|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.S57I|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.S57I NM_004840.2 NP_004831.1 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 211 SH3. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.S211I(1) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1) 38 Acute lymphoblastic leukemia(192;0.000127) GACATAATTACTGGGGAACCA 0.403000 23 139 2.98393e-07 3.64599e-07 0.016522 1 0 TRPM6 140803 broad.mit.edu 37 9 77436693 77436693 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:77436693A>G ENST00000451710.3 - 8 1139 c.902T>C c.(901-903)cTg>cCg p.L301P TRPM6_ENST00000376872.3_Missense_Mutation_p.L301P|TRPM6_ENST00000361255.3_Missense_Mutation_p.L296P|TRPM6_ENST00000360774.1_Missense_Mutation_p.L301P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Missense_Mutation_p.L296P|TRPM6_ENST00000376864.4_Missense_Mutation_p.L301P|TRPM6_ENST00000376871.3_Missense_Mutation_p.L301P Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 301 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.L301P(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CCACACTGACAGGATGACGTT 0.577000 13 37 0 0 0.020292 0 0 LINC00264 645528 broad.mit.edu 37 10 26880338 26880338 + RNA SNP G G C rs3118888 by1000genomes TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:26880338G>C ENST00000412114.1 + 0 573 NR_026793.1 GCTGAAACATGGAAGGTAAAA 0.483000 3 31 0 0 0.009096 0 0 GLDC 2731 broad.mit.edu 37 9 6605137 6605137 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:6605137C>T ENST00000321612.6 - 6 1005 c.855G>A c.(853-855)caG>caA p.Q285Q NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 285 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.Q285Q(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTACCCCACTCTGATGAGCTC 0.498000 5 36 0 0 0.021553 0 0 GSTCD 79807 broad.mit.edu 37 4 106744216 106744216 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:106744216G>T ENST00000515279.1 + 6 1566 c.1346G>T c.(1345-1347)tGc>tTc p.C449F GSTCD_ENST00000360505.5_Missense_Mutation_p.C449F|GSTCD_ENST00000515255.1_3'UTR|RP11-45L9.1_ENST00000506527.1_RNA|RP11-45L9.1_ENST00000504955.1_RNA|RP11-45L9.1_ENST00000509003.1_RNA|GSTCD_ENST00000394730.3_Missense_Mutation_p.C362F|GSTCD_ENST00000394728.3_Missense_Mutation_p.C449F Q8NEC7 GSTCD_HUMAN glutathione S-transferase, C-terminal domain containing 449 cytoplasm rRNA methyltransferase activity p.C362F(1)|p.C449F(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) GTGGATTTCTGCAGCGGTGGG 0.388000 17 82 4.75885e-15 6.4608e-15 0.033300 1 0 FOXI1 2299 broad.mit.edu 37 5 169533524 169533524 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:169533524A>T ENST00000449804.2 + 1 608 c.563A>T c.(562-564)gAg>gTg p.E188V FOXI1_ENST00000306268.6_Missense_Mutation_p.E188V NM_012188.4|NM_144769.2 NP_036320.2|NP_658982.1 Q12951 FOXI1_HUMAN forkhead box I1 188 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding p.E188V(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCGCGACGAGGACGACCCG 0.577000 Pendred syndrome 7 22 0 0 0.029380 0 0 ZFP1 162239 broad.mit.edu 37 16 75204195 75204195 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:75204195G>C ENST00000393430.2 + 4 1311 c.1187G>C c.(1186-1188)aGt>aCt p.S396T ZFP1_ENST00000332307.4_Missense_Mutation_p.S363T|ZFP1_ENST00000464850.1_3'UTR|ZFP1_ENST00000570010.1_Missense_Mutation_p.S396T|ZFP1_ENST00000568079.1_3'UTR Q6P2D0 ZFP1_HUMAN ZFP1 zinc finger protein 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S396T(1) endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 12 TCCCGACTCAGTGTCCATCAG 0.493000 13 29 0 0 0.020292 0 0 SEMA5A 9037 broad.mit.edu 37 5 9066617 9066617 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:9066617C>A ENST00000382496.5 - 17 2880 c.2215G>T c.(2215-2217)Gat>Tat p.D739Y NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 739 TSP type-1 4. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.D739Y(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 AAATTCGGATCAGCCAGGCGG 0.552000 74 145 4.66136e-34 6.67617e-34 0.014410 1 0 ZNF713 349075 broad.mit.edu 37 7 56007632 56007632 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:56007632G>T ENST00000429591.2 + 4 1264 c.1226G>T c.(1225-1227)cGg>cTg p.R409L MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R409L(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCCATACTCGGGAGAAATTA 0.383000 17 62 0.000566183 0.00063432 0.033300 1 0 SYTL3 94120 broad.mit.edu 37 6 159178390 159178390 + Missense_Mutation SNP C C A rs139194153 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:159178390C>A ENST00000297239.9 + 13 1479 c.1285C>A c.(1285-1287)Cgc>Agc p.R429S SYTL3_ENST00000367081.3_Missense_Mutation_p.R155S|SYTL3_ENST00000360448.3_Missense_Mutation_p.R361S Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 429 intracellular protein transport endomembrane system|membrane Rab GTPase binding p.R361S(1) endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) ACAGTCCTTCCGCTGGCATCC 0.542000 10 45 1.49906e-05 1.76546e-05 0.020292 1 0 MRPS9 64965 broad.mit.edu 37 2 105716185 105716185 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:105716185G>T ENST00000258455.3 + 11 1267 c.1157G>T c.(1156-1158)gGa>gTa p.G386V AC104655.2_ENST00000449177.1_RNA NM_182640.2 NP_872578.1 P82933 RT09_HUMAN mitochondrial ribosomal protein S9 386 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome p.G386V(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 GGCCAAGAGGGAGCCCGCAGA 0.483000 3 33 0.00024832 0.000282247 0.009096 1 0 GREB1 9687 broad.mit.edu 37 2 11772056 11772056 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:11772056C>T ENST00000381486.2 + 27 4933 c.4633C>T c.(4633-4635)Ccg>Tcg p.P1545S GREB1_ENST00000396123.1_Missense_Mutation_p.P543S|GREB1_ENST00000234142.5_Missense_Mutation_p.P1545S NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1545 integral to membrane p.P1545S(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TATAAAAAGTCCGACATTCAC 0.463000 5 52 0 0 0.014758 0 0 KCNJ11 3767 broad.mit.edu 37 11 17408921 17408921 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:17408921T>C ENST00000339994.4 - 1 1285 c.718A>G c.(718-720)Atg>Gtg p.M240V KCNJ11_ENST00000528731.1_Missense_Mutation_p.M153V NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 153 integral to membrane ATP-activated inward rectifier potassium channel activity p.M240V(1) endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CCGTTCTCCATGGGGATGTCC 0.612000 OREG0020810 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 42 0 0 0.008291 0 0 TAT 6898 broad.mit.edu 37 16 71610280 71610280 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:71610280G>T ENST00000355962.4 - 2 172 c.39C>A c.(37-39)aaC>aaA p.N13K RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 13 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding p.N13K(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TTGAGGGGAGGTTGCCTTTGC 0.537000 9 47 2.17888e-05 2.55072e-05 0.006214 1 0 GPRC6A 222545 broad.mit.edu 37 6 117128020 117128020 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:117128020A>G ENST00000310357.3 - 3 869 c.848T>C c.(847-849)gTt>gCt p.V283A GPRC6A_ENST00000530250.1_Intron|GPRC6A_ENST00000368549.3_Missense_Mutation_p.V283A NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 283 response to amino acid stimulus G-protein coupled receptor activity p.V283A(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GAGATCAAAAACATGGAATTG 0.348000 12 82 0 0 0.013537 0 0 RBM48 84060 broad.mit.edu 37 7 92158152 92158152 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:92158152G>T ENST00000481551.1 + 1 66 c.25G>T c.(25-27)Ggg>Tgg p.G9W RBM48_ENST00000265732.5_Missense_Mutation_p.G9W Q5RL73 CG064_HUMAN RNA binding motif protein 48 9 nucleotide binding p.G9W(1) CGGGGAGCTAGGGAGTTTATT 0.552000 5 21 0.014758 0.0154288 0.014758 1 0 SEMA4B 10509 broad.mit.edu 37 15 90771740 90771740 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:90771740C>T ENST00000411539.2 + 14 2639 c.2379C>T c.(2377-2379)agC>agT p.S793S SEMA4B_ENST00000332496.6_Silent_p.S793S|SEMA4B_ENST00000379122.3_Intron NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B p.S793S(1) NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TGTCAGACAGCCCCCCGGGGT 0.677000 3 14 0 0 0.004672 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95206110 95206110 + Splice_Site SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:95206110G>C ENST00000354268.4 + 23 2982 c.e23-1 SMARCAD1_ENST00000457823.2_Splice_Site|SMARCAD1_ENST00000509418.1_Splice_Site Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity p.?(1) breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TTTTTTTTTAGAGAAGTACTA 0.259000 20 47 0 0 0.008871 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157780 26157780 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:26157780G>C ENST00000325250.1 + 2 865 c.678G>C c.(676-678)atG>atC p.M226I NM_173699.3 NP_775970.1 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 226 MAGE. protein binding p.M226I(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2) 33 TGAATATGATGGGTGTATATG 0.488000 4 14 0 0 0.009096 0 0 KANSL3 55683 broad.mit.edu 37 2 97297100 97297100 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:97297100G>C ENST00000599854.1 - 3 541 c.74C>G c.(73-75)aCt>aGt p.T25S KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.T25S|KANSL3_ENST00000440133.1_5'UTR|KANSL3_ENST00000431828.1_Missense_Mutation_p.T112S|KANSL3_ENST00000435669.1_Missense_Mutation_p.T25S NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 112 p.T112S(1) ATCTGCATCAGTCCTGGCAAA 0.512000 3 17 0 0 0.004672 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444964 234444964 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:234444964G>C ENST00000366618.3 + 4 871 c.726G>C c.(724-726)aaG>aaC p.K242N SLC35F3_ENST00000366617.3_Missense_Mutation_p.K173N NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 173 transport integral to membrane p.K242N(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) ATGCAATAAAGAAAATAAACA 0.428000 4 102 0 0 0.009096 0 0 KATNAL1 84056 broad.mit.edu 37 13 30814603 30814603 + Silent SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:30814603T>C ENST00000380615.3 - 6 887 c.720A>G c.(718-720)ccA>ccG p.P240P KATNAL1_ENST00000380617.3_Silent_p.P240P NM_032116.4 NP_115492.1 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 240 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity p.P240P(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3) 19 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) TCACCTTCCATGGCCTTCTAA 0.393000 30 65 0 0 0.045705 0 0 CIB4 130106 broad.mit.edu 37 2 26864168 26864168 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:26864168C>T ENST00000288861.4 - 1 68 c.15G>A c.(13-15)ttG>ttA p.L5L NM_001029881.1 NP_001025052.1 A0PJX0 CIB4_HUMAN calcium and integrin binding family member 4 5 calcium ion binding p.L5L(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTGATACCTCAAGCATTGCC 0.567000 29 169 0 0 0.045705 0 0 PTBP1 5725 broad.mit.edu 37 19 804558 804558 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:804558G>T ENST00000356948.6 + 6 885 c.462G>T c.(460-462)gtG>gtT p.V154V PTBP1_ENST00000394601.4_Silent_p.V154V|PTBP1_ENST00000349038.4_Silent_p.V154V|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 154 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding p.V154V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) TGCAGGCGGTGAACTCGGTCC 0.756000 6 29 0.00198382 0.00213684 0.029380 1 0 PRDM9 56979 broad.mit.edu 37 5 23526879 23526879 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:23526879T>A ENST00000296682.3 + 11 1864 c.1682T>A c.(1681-1683)tTt>tAt p.F561Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 561 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.F561Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GGGCGGGGCTTTAGCTGGAAG 0.532000 HNSCC(3;0.000094) 11 82 0 0 0.013537 0 0 PM20D1 148811 broad.mit.edu 37 1 205814509 205814509 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:205814509C>T ENST00000367136.4 - 3 477 c.433G>A c.(433-435)Gag>Aag p.E145K PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 145 extracellular region metal ion binding|peptidase activity p.E145K(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) CCATCACGCTCCAACCCAGAG 0.577000 14 74 0 0 0.024245 0 0 STON1 11037 broad.mit.edu 37 2 48822396 48822396 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:48822396C>T ENST00000309835.3 + 3 2173 c.2163C>T c.(2161-2163)atC>atT p.I721I STON1_ENST00000406226.1_Silent_p.I721I|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|STON1_ENST00000404752.1_Silent_p.I721I|STON1-GTF2A1L_ENST00000394754.1_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000402114.2_Intron stonin 1 p.I721I(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGATTAAAATCGATGGAGAAG 0.388000 5 53 0 0 0.029380 0 0 TSKS 60385 broad.mit.edu 37 19 50251357 50251357 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:50251357G>T ENST00000246801.3 - 4 646 c.564C>A c.(562-564)taC>taA p.Y188* NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 188 protein binding p.Y188*(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) GTTGAATGCAGTACCCCTCCA 0.572000 22 109 1.1804e-14 1.59701e-14 0.021523 1 0 ZNF99 7652 broad.mit.edu 37 19 22940005 22940005 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:22940005A>G ENST00000397104.3 - 6 2325 c.2326T>C c.(2326-2328)Tgt>Cgt p.C776R zinc finger protein 99 p.C776R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CATTCTTCACATTTGTATGGT 0.378000 22 50 0 0 0.010504 0 0 PNPLA7 375775 broad.mit.edu 37 9 140354901 140354901 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:140354901G>A ENST00000406427.1 - 35 4309 c.3973C>T c.(3973-3975)Cac>Tac p.H1325Y PNPLA7_ENST00000277531.4_Missense_Mutation_p.H1300Y|PNPLA7_ENST00000371457.1_Missense_Mutation_p.H906Y|PNPLA7_ENST00000492278.1_5'UTR NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 1300 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity p.H1300Y(1) breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) AGACTGGGGTGTCGATGCCGC 0.632000 3 15 0 0 0.009096 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96557601 96557601 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:96557601A>G ENST00000456556.1 - 45 2847 c.2763T>C c.(2761-2763)tcT>tcC p.S921S ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Silent_p.S172S|ANKRD36C_ENST00000295246.5_Silent_p.S342S ankyrin repeat domain 36C p.S172S(2)|p.S921S(1)|p.S342S(1) breast(1)|endometrium(8)|kidney(5)|lung(4) 18 ATGGTTTCTCAGAAGACACTG 0.308000 2 4 0 0 0.004672 0 0 ZNF383 163087 broad.mit.edu 37 19 37734241 37734241 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:37734241G>T ENST00000589413.1 + 8 1686 c.1103G>T c.(1102-1104)tGt>tTt p.C368F ZNF383_ENST00000590503.1_Missense_Mutation_p.C368F|ZNF383_ENST00000352998.3_Missense_Mutation_p.C368F Q8NA42 ZN383_HUMAN zinc finger protein 383 368 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.C368F(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1) 15 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CCCTATGATTGTAAGGAATGT 0.438000 12 69 1.5842e-08 1.97268e-08 0.016723 1 0 AKT3 10000 broad.mit.edu 37 1 243828134 243828134 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:243828134C>A ENST00000366539.1 - 4 424 c.224G>T c.(223-225)aGa>aTa p.R75I AKT3_ENST00000263826.5_Missense_Mutation_p.R75I|AKT3_ENST00000336199.5_Missense_Mutation_p.R75I|AKT3_ENST00000366540.1_Missense_Mutation_p.R75I Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 75 PH. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity p.R75I(3) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CTGGAGACATCTGATTATAAA 0.299000 29 105 6.05902e-23 8.58361e-23 0.017118 1 0 TRMT1 55621 broad.mit.edu 37 19 13220612 13220612 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:13220612C>T ENST00000592062.1 - 11 1717 c.1147G>A c.(1147-1149)Gag>Aag p.E383K TRMT1_ENST00000437766.1_Missense_Mutation_p.E383K|TRMT1_ENST00000357720.4_Missense_Mutation_p.E383K|TRMT1_ENST00000221504.8_Missense_Mutation_p.E354K Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 383 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding p.E383K(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) TGTTCACACTCGGGGGTCACA 0.607000 10 33 0 0 0.010729 0 0 PIP 5304 broad.mit.edu 37 7 142836239 142836239 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:142836239T>G ENST00000291009.3 + 3 313 c.273T>G c.(271-273)tgT>tgG p.C91W NM_002652.2 NP_002643.1 P12273 PIP_HUMAN prolactin-induced protein 91 extracellular region actin binding p.C91W(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 18 Melanoma(164;0.059) Ovarian(593;2.82e-05)|Breast(660;0.012) BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08) CCTGCCTATGTGACGACAATC 0.463000 4 120 0 0 0.029380 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26423299 26423299 + RNA SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:26423299C>T ENST00000466808.2 + 0 218 p.A73V(1) TTCTCCCCTGCAGTGTTTGTG 0.542000 9 44 0 0 0.006214 0 0 SRPRB 58477 broad.mit.edu 37 3 133525472 133525472 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:133525472G>T ENST00000466490.2 + 3 459 c.174G>T c.(172-174)cgG>cgT p.R58R NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 58 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity p.R58R(1) breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AGTTAATCCGGAGCAGAAGGA 0.453000 7 82 0.00198382 0.00213684 0.029380 1 0 TLR10 81793 broad.mit.edu 37 4 38776689 38776689 + Silent SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:38776689T>G ENST00000308973.4 - 4 1128 c.523A>C c.(523-525)Aga>Cga p.R175R TLR10_ENST00000506111.1_Silent_p.R175R|TLR10_ENST00000361424.2_Silent_p.R175R|TLR10_ENST00000508334.1_Silent_p.R175R NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 175 inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity p.R175R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GGAAGAGTTCTGAATCCTAAG 0.388000 18 120 0 0 0.038395 0 0 CAD 790 broad.mit.edu 37 2 27461359 27461359 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:27461359C>T ENST00000264705.4 + 31 5083 c.4921C>T c.(4921-4923)Cac>Tac p.H1641Y CAD_ENST00000403525.1_Missense_Mutation_p.H1578Y NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 1641 DHOase (dihydroorotase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity p.H1641Y(1) NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGTGGCTCCCCACCACCTGTT 0.617000 30 108 0 0 0.019004 0 0 APBB3 10307 broad.mit.edu 37 5 139943182 139943182 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:139943182C>G ENST00000357560.4 - 3 730 c.287G>C c.(286-288)cGg>cCg p.R96P APBB3_ENST00000358580.5_Missense_Mutation_p.R96P|APBB3_ENST00000354402.5_Missense_Mutation_p.R96P|APBB3_ENST00000508496.2_Intron|APBB3_ENST00000511201.2_Missense_Mutation_p.R96P|APBB3_ENST00000507279.1_5'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.R96P|APBB3_ENST00000356738.2_Missense_Mutation_p.R96P NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 96 actin cytoskeleton|cytoplasm p.R96P(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTTACCTCCGGTCCAGTGA 0.562000 13 25 0 0 0.016723 0 0 ARSJ 79642 broad.mit.edu 37 4 114824400 114824400 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:114824400C>T ENST00000315366.7 - 2 1696 c.830G>A c.(829-831)aGg>aAg p.R277K ARSJ_ENST00000541197.1_Missense_Mutation_p.R277K NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 277 extracellular region arylsulfatase activity|metal ion binding p.R277K(1)|p.R277M(1) endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TTCGAAATACCTGCCAGGAGC 0.423000 30 95 0 0 0.034045 0 0 SLC26A4 5172 broad.mit.edu 37 7 107350585 107350585 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:107350585A>G ENST00000265715.3 + 19 2400 c.2176A>G c.(2176-2178)Ata>Gta p.I726V SLC26A4_ENST00000541474.1_Missense_Mutation_p.I287V|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I295V|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I313V NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 726 STAS. regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity p.I726V(1) central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CCATGATGCTATACTCTATCT 0.363000 Pendred syndrome 12 70 0 0 0.010729 0 0 ZNF420 147923 broad.mit.edu 37 19 37619576 37619576 + Silent SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:37619576T>C ENST00000337995.3 + 5 1898 c.1683T>C c.(1681-1683)tgT>tgC p.C561C ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000586540.1_3'UTR|ZNF420_ENST00000304239.7_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C561C(1) breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATATCAATGTAAGGAATGTG 0.423000 4 86 0 0 0.009096 0 0 DPPA4 55211 broad.mit.edu 37 3 109052752 109052752 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:109052752C>T ENST00000335658.6 - 2 197 c.143G>A c.(142-144)aGa>aAa p.R48K DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 48 nucleus protein binding p.R48K(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 TTCTTTGGTTCTCTTTGCTGA 0.438000 4 109 0 0 0.009096 0 0 SLC35F5 80255 broad.mit.edu 37 2 114500365 114500365 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:114500365C>G ENST00000245680.2 - 7 1067 c.654G>C c.(652-654)atG>atC p.M218I SLC35F5_ENST00000409342.1_Missense_Mutation_p.M212I NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 218 transport integral to membrane p.M218I(1) endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CAGGATATGACATGCGAGACA 0.408000 19 129 0 0 0.010504 0 0 TENM1 10178 broad.mit.edu 37 X 123637470 123637470 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:123637470C>G ENST00000422452.2 - 19 3448 c.3385G>C c.(3385-3387)Gat>Cat p.D1129H TENM1_ENST00000371130.3_Missense_Mutation_p.D1129H NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.D1131H(1) TTAGAAGCATCCATCTCAAAA 0.373000 113 271 0 0 0.014410 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093059 143093059 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:143093059C>G ENST00000367603.2 - 5 3559 c.2817G>C c.(2815-2817)aaG>aaC p.K939N HIVEP2_ENST00000012134.2_Missense_Mutation_p.K939N|HIVEP2_ENST00000367604.1_Missense_Mutation_p.K939N NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K939N(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCAGACGCTTCTTTTTGGGTG 0.572000 8 63 0 0 0.038147 0 0 USH2A 7399 broad.mit.edu 37 1 216017807 216017807 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:216017807G>A ENST00000366943.2 - 46 9473 c.9087C>T c.(9085-9087)gtC>gtT p.V3029V USH2A_ENST00000307340.3_Silent_p.V3029V O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3029 Fibronectin type-III 17. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.V3029V(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTTGATGATGACAACCTCTG 0.403000 HNSCC(13;0.011) 5 72 0 0 0.014758 0 0 MCM4 4173 broad.mit.edu 37 8 48880031 48880031 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:48880031G>A ENST00000262105.2 + 9 1369 c.1160G>A c.(1159-1161)aGa>aAa p.R387K MCM4_ENST00000523944.1_Missense_Mutation_p.R387K NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 387 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding p.R387K(1) biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CCTGGGGACAGAGTGAATGTT 0.498000 29 97 0 0 0.012213 0 0 GABRR1 2569 broad.mit.edu 37 6 89909084 89909084 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:89909084G>A ENST00000435811.1 - 3 748 c.294C>T c.(292-294)gaC>gaT p.D98D GABRR1_ENST00000454853.2_Silent_p.D115D|GABRR1_ENST00000369451.3_Silent_p.D28D NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 115 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.D109D(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) CACTTACCATGTCAACCTCTG 0.547000 4 21 0 0 0.014758 0 0 AFG3L2 10939 broad.mit.edu 37 18 12359959 12359959 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:12359959C>T ENST00000269143.3 - 7 950 c.719G>A c.(718-720)cGg>cAg p.R240Q NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 240 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.R240Q(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) AACAGGCACCCGATTTTCTCC 0.408000 9 121 0 0 0.004482 0 0 PSG8 440533 broad.mit.edu 37 19 43268091 43268091 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:43268091C>G ENST00000404209.4 - 2 503 c.407G>C c.(406-408)gGa>gCa p.G136A PSG8_ENST00000306511.4_Missense_Mutation_p.G136A|PSG8_ENST00000401467.2_Missense_Mutation_p.G136A|PSG8_ENST00000406636.3_Intron NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 136 Ig-like V-type. extracellular region p.G136A(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GGTGAAATGTCCAGTTACTCC 0.493000 30 339 0 0 0.015359 0 0 ANKH 56172 broad.mit.edu 37 5 14769115 14769115 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:14769115C>T ENST00000284268.6 - 2 612 c.282G>A c.(280-282)ggG>ggA p.G94G NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 94 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity p.G94G(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 CAGCGATGGCCCCTGCCACCA 0.502000 52 47 0 0 0.014410 0 0 ZNF618 114991 broad.mit.edu 37 9 116812104 116812104 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:116812104C>G ENST00000288466.7 + 14 2342 c.2243C>G c.(2242-2244)gCc>gGc p.A748G ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.A841G NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 841 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.A841G(1)|p.A748G(1)|p.A758G(1) breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 GAGTCCTGGGCCGAGGAGGCC 0.622000 22 38 0 0 0.016522 0 0 EMILIN2 84034 broad.mit.edu 37 18 2892120 2892120 + Silent SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:2892120T>C ENST00000254528.3 + 4 2154 c.1995T>C c.(1993-1995)caT>caC p.H665H NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 665 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding p.H665H(1) breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) CCGTGGCTCATTGCTGCAGTC 0.602000 24 60 0 0 0.021523 0 0 ITGAD 3681 broad.mit.edu 37 16 31414913 31414913 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:31414913C>A ENST00000389202.2 + 7 700 c.651C>A c.(649-651)ccC>ccA p.P217P RP11-120K18.2_ENST00000567545.1_RNA NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 217 VWFA. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity p.P217P(1) breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGGTGGATCCCATCGTCCAAC 0.587000 7 58 0.00198382 0.00213684 0.029380 1 0 PIK3CA 5290 broad.mit.edu 37 3 178916946 178916946 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:178916946G>C ENST00000263967.3 + 2 490 c.333G>C c.(331-333)aaG>aaC p.K111N NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 111 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111del(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTGAAGAAAAGATCCTCAATC 0.328000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 37 119 0 0 0.025465 0 0 OR4X1 390113 broad.mit.edu 37 11 48285642 48285642 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:48285642C>A ENST00000320048.1 + 1 230 c.230C>A c.(229-231)cCc>cAc p.P77H NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P77H(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTCATGGCCCCCAAGCTTATC 0.488000 15 51 4.14922e-12 5.51818e-12 0.028581 1 0 CNOT10 25904 broad.mit.edu 37 3 32805965 32805965 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:32805965A>G ENST00000328834.5 + 16 2175 c.1859A>G c.(1858-1860)aAt>aGt p.N620S CNOT10_ENST00000454516.2_Missense_Mutation_p.N680S|CNOT10_ENST00000331889.6_Missense_Mutation_p.N593S NM_015442.2 NP_056257.1 Q9H9A5 CNOTA_HUMAN CCR4-NOT transcription complex, subunit 10 620 nuclear-transcribed mRNA poly(A) tail shortening cytosol protein binding p.N620S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3) 23 AAAGGTGAAAATGAAGCAATG 0.378000 10 123 0 0 0.008291 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711422 155711422 + Nonsense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:155711422C>A ENST00000295101.2 + 3 1580 c.1103C>A c.(1102-1104)tCg>tAg p.S368* KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 368 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.S368*(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTTCTCATGTCGTCCCCTTTA 0.413000 21 124 2.39187e-15 3.25861e-15 0.008871 1 0 PREX2 80243 broad.mit.edu 37 8 68972959 68972959 + Silent SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:68972959T>G ENST00000288368.4 + 11 1561 c.1284T>G c.(1282-1284)ccT>ccG p.P428P PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 428 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.P428P(4) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTCACAGGCCTGAGGAAGGCG 0.378000 14 102 0 0 0.033300 0 0 PLXNA1 5361 broad.mit.edu 37 3 126708349 126708349 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:126708349G>T ENST00000393409.2 + 1 913 c.913G>T c.(913-915)Gcg>Tcg p.A305S PLXNA1_ENST00000251772.4_Missense_Mutation_p.A282S NM_032242.3 NP_115618.3 Q9UIW2 PLXA1_HUMAN plexin A1 305 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity p.A282S(1) breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) CTGCGAGCAGGCGGGTGTGGA 0.652000 38 139 4.14481e-20 5.76733e-20 0.025465 1 0 TMEM178A 130733 broad.mit.edu 37 2 39944312 39944312 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:39944312G>C ENST00000281961.2 + 4 871 c.815G>C c.(814-816)gGa>gCa p.G272A TMEM178A_ENST00000482239.1_3'UTR NM_152390.2 NP_689603.2 transmembrane protein 178A p.G272A(1) GTGGCAGCTGGAGGTCTCTGC 0.512000 16 112 0 0 0.033300 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561550 145561550 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:145561550A>G ENST00000355594.4 + 10 1325 c.1238A>G c.(1237-1239)cAg>cGg p.Q413R NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 413 p.Q413R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GGAAAGATCCAGTATGAAGTC 0.537000 7 38 0 0 0.038147 0 0 TENM1 10178 broad.mit.edu 37 X 123540180 123540180 + Nonsense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:123540180A>T ENST00000422452.2 - 26 5205 c.5142T>A c.(5140-5142)taT>taA p.Y1714* TENM1_ENST00000371130.3_Nonsense_Mutation_p.Y1707*|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.Y1709*(1) GTTTTAAAATATATATGGTAC 0.413000 23 181 0 0 0.016522 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130343039 130343039 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:130343039C>T ENST00000299164.2 + 8 2176 c.2176C>T c.(2176-2178)Ctg>Ttg p.L726L NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 726 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L726L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) TGACAACTACCTGGCTCTGAA 0.607000 16 31 0 0 0.024245 0 0 SI 6476 broad.mit.edu 37 3 164764690 164764690 + Nonsense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:164764690C>T ENST00000264382.3 - 16 1888 c.1826G>A c.(1825-1827)tGg>tAg p.W609* NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 609 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 p.W609L(1)|p.W609*(1) 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) CATTTGTTCCCATGAAGCAGT 0.393000 HNSCC(35;0.089) 26 128 0 0 0.034045 0 0 TCHH 7062 broad.mit.edu 37 1 152082275 152082275 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:152082275A>T ENST00000368804.1 - 2 3417 c.3418T>A c.(3418-3420)Tat>Aat p.Y1140N NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1140 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding p.Y1140N(1) NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tcctcccgatattgcctctcc 0.607000 11 50 0 0 0.008291 0 0 ALOX15 246 broad.mit.edu 37 17 4535475 4535475 + Splice_Site SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:4535475C>A ENST00000570836.1 - 13 1738 c.e13+1 ALOX15_ENST00000545513.1_Splice_Site|ALOX15_ENST00000293761.3_Splice_Site|ALOX15_ENST00000574640.1_Splice_Site P16050 LOX15_HUMAN arachidonate 15-lipoxygenase inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity p.?(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5) 20 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) CTGGTAAGTACCTGGCCCAGG 0.597000 17 33 0.00074312 0.000825455 0.038395 1 0 UHMK1 127933 broad.mit.edu 37 1 162470787 162470787 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:162470787G>C ENST00000489294.1 + 3 804 c.646G>C c.(646-648)Gat>Cat p.D216H UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.D142H|UHMK1_ENST00000538489.1_Missense_Mutation_p.D216H NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 216 Protein kinase. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding p.D216H(2) endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CCTGCAGAGTGATACAGAATG 0.433000 4 49 0 0 0.009096 0 0 HCN1 348980 broad.mit.edu 37 5 45396782 45396782 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:45396782C>G ENST00000303230.4 - 4 1099 c.1042G>C c.(1042-1044)Gca>Cca p.A348P NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 348 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.A348T(2)|p.A348P(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTGAAGAGTGCGTATGAATAC 0.448000 23 70 0 0 0.018920 0 0 FLNA 2316 broad.mit.edu 37 X 153590146 153590146 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:153590146C>A ENST00000422373.1 - 20 3084 c.2836G>T c.(2836-2838)Ggc>Tgc p.G946C FLNA_ENST00000344736.4_Missense_Mutation_p.G946C|FLNA_ENST00000369850.3_Missense_Mutation_p.G946C|FLNA_ENST00000360319.4_Missense_Mutation_p.G946C NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 946 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.G946C(1) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACATTGACGCCTACTGGACCC 0.567000 5 38 0.00116845 0.00128332 0.021553 1 0 LTBP4 8425 broad.mit.edu 37 19 41129916 41129916 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:41129916G>C ENST00000308370.7 + 30 3959 c.3959G>C c.(3958-3960)tGt>tCt p.C1320S LTBP4_ENST00000396819.3_Missense_Mutation_p.C1253S|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.C1283S|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.C688S NM_001042544.1 NP_001036009.1 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding protein 4 1321 EGF-like 14; calcium-binding (Potential). growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity p.C1320S(1) central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTTATCACTGTACCTGCGAG 0.637000 4 20 0 0 0.009096 0 0 OR4K1 79544 broad.mit.edu 37 14 20404199 20404199 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:20404199C>A ENST00000285600.4 + 1 433 c.374C>A c.(373-375)gCc>gAc p.A125D NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A125D(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AGATTTATAGCCATATGTAAG 0.443000 27 192 2.12542e-12 2.83631e-12 0.030593 1 0 GLCE 26035 broad.mit.edu 37 15 69561478 69561478 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:69561478C>G ENST00000261858.2 + 5 1977 c.1749C>G c.(1747-1749)atC>atG p.I583M GLCE_ENST00000559420.2_Missense_Mutation_p.I519M NM_015554.1 NP_056369.1 O94923 GLCE_HUMAN glucuronic acid epimerase 583 heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process Golgi membrane|integral to membrane UDP-glucuronate 5'-epimerase activity p.I583M(1) NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 18 CCACCCACATCAATCAGTTGC 0.493000 47 219 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:7577536T>C ENST00000420246.2 - 7 877 c.745A>G c.(745-747)Agg>Ggg p.R249G TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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) AGGATGGGCCTCCGGTTCATG 0.567000 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) 11 41 0 0 0.008291 0 0 LETM1 3954 broad.mit.edu 37 4 1823941 1823941 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:1823941C>T ENST00000302787.2 - 10 1871 c.1575G>A c.(1573-1575)ttG>ttA p.L525L NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 525 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.L525L(1) breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CAGTGTCCTTCAAGGTCTCTG 0.602000 11 39 0 0 0.010729 0 0 SP140 11262 broad.mit.edu 37 2 231174740 231174740 + Silent SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:231174740T>A ENST00000392045.3 + 23 2274 c.2160T>A c.(2158-2160)ccT>ccA p.P720P SP140_ENST00000420434.3_Silent_p.P693P|SP140_ENST00000350136.5_Silent_p.P589P|SP140_ENST00000486687.2_Silent_p.P644P|SP140_ENST00000417495.3_Silent_p.P606P|SP140_ENST00000343805.6_Silent_p.P660P NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 720 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P720P(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACATCCCGCCTGTGGAAGCTG 0.547000 4 48 0 0 0.014758 0 0 CPT1A 1374 broad.mit.edu 37 11 68548137 68548137 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:68548137C>A ENST00000265641.5 - 12 1583 c.1429G>T c.(1429-1431)Gat>Tat p.D477Y CPT1A_ENST00000376618.2_Missense_Mutation_p.D477Y|CPT1A_ENST00000539743.1_Missense_Mutation_p.D477Y|CPT1A_ENST00000540367.1_Missense_Mutation_p.D477Y NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 477 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.D477Y(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) ATCGGCGCATCTGCCCAGGAG 0.502000 12 33 1.5842e-08 1.97268e-08 0.016723 1 0 TMF1 7110 broad.mit.edu 37 3 69097192 69097192 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:69097192T>C ENST00000543976.1 - 2 910 c.664A>G c.(664-666)Aca>Gca p.T222A CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.T222A|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 222 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity p.T222A(1) cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) ATGTCCTTTGTTTCTGCTGTG 0.393000 39 134 0 0 0.027894 0 0 GP5 2814 broad.mit.edu 37 3 194117342 194117342 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:194117342C>A ENST00000401815.1 - 1 1741 c.1670G>T c.(1669-1671)aGa>aTa p.R557I GP5_ENST00000323007.3_Missense_Mutation_p.R557I P40197 GPV_HUMAN glycoprotein V (platelet) 557 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane p.R557I(2) breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) CCCAAGGGCTCTCTCTCTGAT 0.438000 76 245 1.16018e-38 1.68636e-38 0.014410 1 0 LOC146880 146880 broad.mit.edu 37 17 62750577 62750577 + RNA SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:62750577G>C ENST00000400873.3 - 0 2036 NR_026899.1 ACTAATCCATGATTCACAACT 0.423000 37 148 0 0 0.019004 0 0 CEP192 55125 broad.mit.edu 37 18 13124693 13124693 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:13124693C>G ENST00000506447.1 + 45 7618 c.7538C>G c.(7537-7539)gCt>gGt p.A2513G CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A2038G|CEP192_ENST00000325971.8_Missense_Mutation_p.A1917G NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 2108 p.A2513G(1)|p.A1917G(1) NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AAATTTGAAGCTTTGCTTGTC 0.413000 4 37 0 0 0.009096 0 0 SRSF4 6429 broad.mit.edu 37 1 29475666 29475666 + Nonsense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:29475666G>A ENST00000546138.1 - 4 581 c.436C>T c.(436-438)Cag>Tag p.Q146* SRSF4_ENST00000373795.4_Silent_p.S247S|SRSF4_ENST00000466448.1_5'UTR Q08170 SRSF4_HUMAN serine/arginine-rich splicing factor 4 0 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding p.S247S(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1) 27 TGGGGCTCCTGCTTTTCTCTT 0.587000 13 131 0 0 0.016723 0 0 ASH1L 55870 broad.mit.edu 37 1 155452127 155452127 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:155452127C>T ENST00000368346.3 - 3 1173 c.534G>A c.(532-534)ctG>ctA p.L178L ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Silent_p.L178L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 178 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.L178L(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) GTACTGGAGACAGCTTCTTAG 0.418000 42 185 0 0 0.045515 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535180 90535180 + RNA SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:90535180C>T ENST00000602681.1 + 0 1084 CCTGGGGCCACACCTTGAAAA 0.632000 8 26 0 0 0.006214 0 0 BTBD2 55643 broad.mit.edu 37 19 1986642 1986642 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:1986642C>T ENST00000255608.4 - 9 1439 c.1423G>A c.(1423-1425)Gac>Aac p.D475N NM_017797.3 NP_060267.2 Q9BX70 BTBD2_HUMAN BTB (POZ) domain containing 2 475 cytoplasmic mRNA processing body protein binding p.D475N(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(11;2.11e-07)|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) TAGTGGGAGTCTGGGCCCTGT 0.647000 5 42 0 0 0.014758 0 0 WASH6P 653440 broad.mit.edu 37 X 155252868 155252868 + RNA SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:155252868T>A ENST00000285718.7 + 0 819 WASH6P_ENST00000461007.1_RNA p.P304P(5) TAGCCGAGCCTCTCAAGGCAG 0.632000 4 5 0 0 0.009096 0 0 CHML 1122 broad.mit.edu 37 1 241797473 241797473 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:241797473C>T ENST00000366553.1 - 1 1759 c.1596G>A c.(1594-1596)ccG>ccA p.P532P OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 532 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.P532P(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) TTTCAGTATACGGAGTGAATA 0.383000 7 63 0 0 0.029380 0 0 FNDC3B 64778 broad.mit.edu 37 3 172098807 172098807 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:172098807C>G ENST00000336824.4 + 25 3326 c.3227C>G c.(3226-3228)aCg>aGg p.T1076R FNDC3B_ENST00000416957.1_Missense_Mutation_p.T1076R|FNDC3B_ENST00000415807.2_Missense_Mutation_p.T1076R NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1076 Fibronectin type-III 9. endoplasmic reticulum|integral to membrane p.T1076R(1) breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TTATGGGAGACGGTACCATCA 0.398000 36 138 0 0 0.017118 0 0 USH2A 7399 broad.mit.edu 37 1 216246251 216246251 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:216246251C>T ENST00000366943.2 - 29 6223 c.5837G>A c.(5836-5838)cGa>cAa p.R1946Q RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1946Q|RP11-22M7.2_ENST00000445619.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1946 Fibronectin type-III 5. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.R1946Q(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGTACGTCCTCGACTCCAATC 0.363000 HNSCC(13;0.011) 13 131 0 0 0.020292 0 0 EPHA4 2043 broad.mit.edu 37 2 222298897 222298897 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:222298897C>A ENST00000281821.2 - 14 2502 c.2461G>T c.(2461-2463)Ggg>Tgg p.G821W EPHA4_ENST00000409938.1_Missense_Mutation_p.G821W|EPHA4_ENST00000392071.4_Missense_Mutation_p.G770W|EPHA4_ENST00000409854.1_Missense_Mutation_p.G821W NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 821 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.G821W(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) GGCCTCTCCCCGTACGACATC 0.418000 37 90 4.14481e-20 5.76733e-20 0.025465 1 0 KPNA3 3839 broad.mit.edu 37 13 50307098 50307098 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:50307098T>C ENST00000261667.3 - 3 613 c.199A>G c.(199-201)Aaa>Gaa p.K67E NM_002267.3 NP_002258.2 O00505 IMA3_HUMAN karyopherin alpha 3 (importin alpha 4) 67 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity p.K67E(1) cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CTTACTGCTTTAAAATCAGCA 0.274000 37 58 0 0 0.025465 0 0 LAMA1 284217 broad.mit.edu 37 18 6999564 6999564 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:6999564C>A ENST00000389658.3 - 32 4636 c.4543G>T c.(4543-4545)Ggc>Tgc p.G1515C NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1515 Laminin EGF-like 17. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding p.G1515C(1) NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGACAGAGCCGTGCGGGTTG 0.587000 6 25 0.00116845 0.00128332 0.021553 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43777469 43777469 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:43777469G>C ENST00000389420.3 - 31 4688 c.4689C>G c.(4687-4689)atC>atG p.I1563M NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1563 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding p.I1563M(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCACTTGTCTGATTTGGTTAT 0.353000 7 51 0 0 0.029380 0 0 PAPOLG 64895 broad.mit.edu 37 2 60988923 60988923 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:60988923C>T ENST00000238714.3 + 3 476 c.227C>T c.(226-228)tCt>tTt p.S76F NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 76 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding p.S76F(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) GAATGGATTTCTGATGTCAGC 0.328000 23 153 0 0 0.018920 0 0 MYF6 4618 broad.mit.edu 37 12 81101699 81101699 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:81101699C>A ENST00000228641.3 + 1 423 c.201C>A c.(199-201)ggC>ggA p.G67G NM_002469.2 NP_002460.1 P23409 MYF6_HUMAN myogenic factor 6 (herculin) 67 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity p.G67G(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1) 26 CGCCCCCGGGCCTGCAGCCTC 0.652000 12 37 0.010729 0.0112468 0.010729 1 0 IFNB1 3456 broad.mit.edu 37 9 21077565 21077565 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:21077565C>T ENST00000380232.2 - 1 378 c.304G>A c.(304-306)Gag>Aag p.E102K NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 102 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity p.E102K(1) breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) ACAATAGTCTCATTCCAGCCA 0.448000 33 194 0 0 0.013726 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20489434 20489434 + RNA SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:20489434C>T ENST00000555186.1 + 0 422 NR_038836.1 CACTGAAGGACCAGATCACCA 0.413000 3 30 0 0 0.029380 0 0 TP63 8626 broad.mit.edu 37 3 189590692 189590692 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:189590692G>A ENST00000264731.3 + 10 1346 c.1257G>A c.(1255-1257)gaG>gaA p.E419E TP63_ENST00000320472.5_Silent_p.E419E|TP63_ENST00000392461.3_Silent_p.E325E|TP63_ENST00000382063.4_Silent_p.E334E|TP63_ENST00000437221.1_Silent_p.E325E|TP63_ENST00000392460.3_Silent_p.E419E|TP63_ENST00000418709.2_Silent_p.E419E|TP63_ENST00000440651.2_Silent_p.E415E|TP63_ENST00000456148.1_Silent_p.E321E|TP63_ENST00000354600.5_Silent_p.E325E|TP63_ENST00000449992.1_Silent_p.E240E|TP63_ENST00000392463.2_Silent_p.E325E NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 419 Oligomerization. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E419E(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AGATCAAAGAGTCCCTGGAAC 0.458000 HNSCC(45;0.13) 12 60 0 0 0.010729 0 0 PIK3C3 5289 broad.mit.edu 37 18 39617691 39617691 + Silent SNP G G T rs145164124 byFrequency TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:39617691G>T ENST00000262039.4 + 17 1961 c.1875G>T c.(1873-1875)acG>acT p.T625T PIK3C3_ENST00000398870.3_Silent_p.T562T|PIK3C3_ENST00000593098.1_Silent_p.T110T NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 625 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding p.T625T(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 TTTTTAAGACGGAAGATGGAG 0.328000 TSP Lung(28;0.18) 26 140 3.01185e-09 3.82348e-09 0.021523 1 0 CDC16 8881 broad.mit.edu 37 13 115037862 115037862 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:115037862G>A ENST00000360383.3 + 18 2005 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K CDC16_ENST00000375310.1_Missense_Mutation_p.E509K|CDC16_ENST00000252458.6_Missense_Mutation_p.E458K|CDC16_ENST00000252457.5_Missense_Mutation_p.E602K|CDC16_ENST00000375312.3_Missense_Mutation_p.E458K|CDC16_ENST00000356221.3_Missense_Mutation_p.E603K|CDC16_ENST00000461716.1_3'UTR|CDC16_ENST00000375308.1_Missense_Mutation_p.E509K NM_001078645.1|NM_003903.3 NP_001072113.1|NP_003894.3 Q13042 CDC16_HUMAN cell division cycle 16 603 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule binding p.E602K(1) endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) CTTTGAAATTGAAATGAATGA 0.453000 13 24 0 0 0.016723 0 0 MAP2K4 6416 broad.mit.edu 37 17 12032561 12032561 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:12032561G>T ENST00000415385.3 + 10 1083 c.1030G>T c.(1030-1032)Gaa>Taa p.E344* MAP2K4_ENST00000353533.5_Nonsense_Mutation_p.E333* P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 333 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1)|p.E333*(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) TAATTCTGAGGAAAGGGAATT 0.438000 """D, Mis, N""" """pancreatic, breast, colorectal""" 13 52 9.31168e-06 1.10329e-05 0.016723 1 0 TRHDE 29953 broad.mit.edu 37 12 73056972 73056972 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:73056972C>A ENST00000261180.4 + 19 3168 c.3072C>A c.(3070-3072)caC>caA p.H1024Q NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 1024 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.H1024Q(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 CTCTAAGACACTAATATATGT 0.388000 8 44 0.00307968 0.00327216 0.038147 1 0 LCT 3938 broad.mit.edu 37 2 136562355 136562355 + Silent SNP G G A rs148768579 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:136562355G>A ENST00000264162.2 - 10 4456 c.4446C>T c.(4444-4446)gcC>gcT p.A1482A NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1482 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.A1482A(1) 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) GGATGCTGGCGGCCAGCAGTG 0.562000 18 46 0 0 0.008871 0 0 CST11 140880 broad.mit.edu 37 20 23431200 23431200 + Silent SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:23431200A>G ENST00000377009.3 - 3 393 c.360T>C c.(358-360)ttT>ttC p.F120F CST11_ENST00000377007.3_Silent_p.F85F NM_130794.1 NP_570612.1 Q9H112 CST11_HUMAN cystatin 11 120 defense response to bacterium cytoplasm|nucleus cysteine-type endopeptidase inhibitor activity p.F120F(1) kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 14 Colorectal(13;0.0431)|Lung NSC(19;0.235) AGGGTACAGCAAACACTGAGA 0.408000 11 26 0 0 0.010729 0 0 GPATCH4 54865 broad.mit.edu 37 1 156568897 156568897 + Splice_Site SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:156568897C>T ENST00000368232.4 - 2 75 c.e2-1 GPATCH4_ENST00000438976.2_Intron|GPATCH4_ENST00000334588.7_Splice_Site NM_015590.3|NM_182679.2 NP_056405.2|NP_872620.1 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 intracellular nucleic acid binding autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1) 17 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGATATCATCCTTTTAAGAAG 0.448000 9 19 0 0 0.004482 0 0 HCFC1 3054 broad.mit.edu 37 X 153220590 153220590 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:153220590G>T ENST00000310441.7 - 17 4226 c.3260C>A c.(3259-3261)aCc>aAc p.T1087N HCFC1_ENST00000354233.3_Missense_Mutation_p.T1018N|HCFC1_ENST00000369984.4_Missense_Mutation_p.T1087N NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1087 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.T990N(1)|p.T1087N(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ggtgttggtggtgCCCGTCTC 0.652000 4 30 0.00909568 0.00956024 0.009096 1 0 TMEM2 23670 broad.mit.edu 37 9 74359946 74359946 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:74359946C>G ENST00000377044.4 - 4 1561 c.1022G>C c.(1021-1023)gGa>gCa p.G341A TMEM2_ENST00000377066.5_Missense_Mutation_p.G341A NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 341 integral to membrane p.G341A(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) GTAGCCCAGTCCTTGGATCAG 0.537000 26 75 0 0 0.024334 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585461 70585461 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:70585461G>T ENST00000260126.3 - 10 2896 c.2190C>A c.(2188-2190)aaC>aaA p.N730K SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.N675K NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 730 integral to membrane|plasma membrane transporter activity p.N730K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ACGACGTCACGTTGTACTCCC 0.453000 41 149 2.22293e-35 3.20726e-35 0.014410 1 0 COL15A1 1306 broad.mit.edu 37 9 101749598 101749598 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:101749598T>A ENST00000375001.3 + 4 1094 c.671T>A c.(670-672)gTg>gAg p.V224E NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 224 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding p.V224E(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) CAGCTCACCGTGCACCCCGAC 0.607000 35 153 0 0 0.021022 0 0 INSIG2 51141 broad.mit.edu 37 2 118860814 118860814 + Nonsense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:118860814G>T ENST00000245787.4 + 3 492 c.286G>T c.(286-288)Gga>Tga p.G96* INSIG2_ENST00000485520.1_3'UTR NM_016133.2 NP_057217.2 Q9Y5U4 INSI2_HUMAN insulin induced gene 2 96 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex p.G96S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 CAGACATCTAGGAGAACCACA 0.388000 28 147 7.01153e-11 9.10801e-11 0.034045 1 0 ABCB5 340273 broad.mit.edu 37 7 20685483 20685483 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:20685483C>A ENST00000404938.2 + 8 1435 c.783C>A c.(781-783)gcC>gcA p.A261A NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 447 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity p.A261A(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CCTTTAGGGCCCAGGAGAAAG 0.403000 40 109 2.00842e-17 2.74578e-17 0.039052 1 0 ARID2 196528 broad.mit.edu 37 12 46285565 46285565 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:46285565G>T ENST00000334344.6 + 17 5097 c.4925G>T c.(4924-4926)tGg>tTg p.W1642L ARID2_ENST00000444670.1_Missense_Mutation_p.W1252L|ARID2_ENST00000422737.1_Missense_Mutation_p.W1493L|ARID2_ENST00000457135.1_Missense_Mutation_p.W250L|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1642 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.W1642L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTTTATAGGTGGTTTCAGACA 0.363000 """N, S, F""" hepatocellular carcinoma 11 91 5.50884e-06 6.54698e-06 0.013537 1 0 NMNAT2 23057 broad.mit.edu 37 1 183247699 183247699 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:183247699T>C ENST00000287713.6 - 8 974 c.640A>G c.(640-642)Aac>Gac p.N214D NMNAT2_ENST00000294868.4_Missense_Mutation_p.N209D NM_015039.3 NP_055854.1 Q9BZQ4 NMNA2_HUMAN nicotinamide nucleotide adenylyltransferase 2 214 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.N214D(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 18 TCTGCCTCGTTCCAGAGCCCT 0.542000 4 28 0 0 0.009096 0 0 CPEB1 64506 broad.mit.edu 37 15 83240093 83240093 + Splice_Site SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:83240093C>T ENST00000563800.1 - 3 2186 c.e3+1 CPEB1_ENST00000398591.2_Splice_Site|CPEB1_ENST00000398592.2_Splice_Site|CPEB1_ENST00000450751.2_Splice_Site|CPEB1_ENST00000568128.1_Splice_Site|CPEB1_ENST00000562019.1_Splice_Site|CPEB1_ENST00000568757.1_Splice_Site|CPEB1_ENST00000423133.2_Splice_Site|CPEB1_ENST00000564522.1_Splice_Site|CPEB1_ENST00000261723.6_Splice_Site Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding protein 1 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding p.?(2) breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(143;0.229) CTGGCACTCACCCGAGTGTGT 0.577000 4 31 0 0 0.014758 0 0 DGKG 1608 broad.mit.edu 37 3 185975687 185975687 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:185975687G>T ENST00000265022.3 - 17 2005 c.1466C>A c.(1465-1467)gCc>gAc p.A489D DGKG_ENST00000544847.1_Missense_Mutation_p.A430D|DGKG_ENST00000344484.4_Missense_Mutation_p.A464D|DGKG_ENST00000382164.4_Missense_Mutation_p.A450D NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 489 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity p.A489D(1) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCACCACAGGCCAAAACACG 0.448000 7 84 0.000157383 0.000180991 0.038147 1 0 CDH5 1003 broad.mit.edu 37 16 66434680 66434680 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:66434680C>T ENST00000341529.3 + 11 1746 c.1598C>T c.(1597-1599)aCg>aTg p.T533M CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 533 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding p.T533M(1) central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCAGATAACACGGCCAACATC 0.567000 32 65 0 0 0.013726 0 0 IRGQ 126298 broad.mit.edu 37 19 44097241 44097241 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:44097241G>A ENST00000422989.1 - 3 964 c.809C>T c.(808-810)cCg>cTg p.P270L IRGQ_ENST00000602269.1_Missense_Mutation_p.P270L NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 270 protein binding p.P270L(1) endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) CACCACATTCGGGCGCTCTGG 0.682000 4 18 0 0 0.009096 0 0 FLAD1 80308 broad.mit.edu 37 1 154956263 154956263 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:154956263C>T ENST00000368433.1 + 1 436 c.93C>T c.(91-93)ctC>ctT p.L31L FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000292180.3_Silent_p.L31L|FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368432.1_Intron Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 31 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.L31L(1) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGTCTTCCTCGAAGGAAGCA 0.552000 13 103 0 0 0.013537 0 0 LRRC1 55227 broad.mit.edu 37 6 53660211 53660211 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:53660211G>C ENST00000370888.1 + 1 434 c.157G>C c.(157-159)Gag>Cag p.E53Q LRRC1_ENST00000370882.1_Missense_Mutation_p.E53Q NM_018214.4 NP_060684.4 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 53 cytoplasm|membrane p.E53Q(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CGAGCTGCCCGAGGTAAGGGT 0.682000 3 14 0 0 0.004672 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454937 84454937 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:84454937T>C ENST00000377084.2 - 1 1591 c.706A>G c.(706-708)Atc>Gtc p.I236V NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 236 LRRCT 1. integral to membrane p.I236V(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) ACTCGGCCGATCAGGGCATTC 0.522000 15 33 0 0 0.020292 0 0 THOC2 57187 broad.mit.edu 37 X 122747258 122747258 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:122747258C>T ENST00000245838.8 - 36 4700 c.4669G>A c.(4669-4671)Ggc>Agc p.G1557S THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1442S|THOC2_ENST00000355725.4_Missense_Mutation_p.G1557S NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1557 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding p.G1557I(1)|p.G1478I(1) breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 ACCTTTTTGCCACCGGAGGAG 0.284000 8 126 0 0 0.004482 0 0 PTGER3 5733 broad.mit.edu 37 1 71512458 71512458 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:71512458T>A ENST00000370924.4 - 1 1033 c.803A>T c.(802-804)cAg>cTg p.Q268L PTGER3_ENST00000414819.1_Missense_Mutation_p.Q268L|PTGER3_ENST00000356595.4_Missense_Mutation_p.Q268L|PTGER3_ENST00000460330.1_Missense_Mutation_p.Q268L|PTGER3_ENST00000351052.5_Missense_Mutation_p.Q268L|PTGER3_ENST00000370932.2_Missense_Mutation_p.Q268L|PTGER3_ENST00000370931.3_Missense_Mutation_p.Q268L|PTGER3_ENST00000354608.5_Missense_Mutation_p.Q268L|PTGER3_ENST00000306666.5_Missense_Mutation_p.Q268L NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 268 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity p.Q268L(5) endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) GGCACTGGACTGAGATGCCGT 0.637000 5 48 0 0 0.014758 0 0 ASB5 140458 broad.mit.edu 37 4 177143487 177143487 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:177143487T>C ENST00000296525.3 - 3 474 c.361A>G c.(361-363)Act>Gct p.T121A ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Missense_Mutation_p.T68A NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 121 intracellular signal transduction p.T121A(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) TCCAGCAGAGTTCTGGCACAT 0.418000 12 50 0 0 0.016723 0 0 ZNF790 388536 broad.mit.edu 37 19 37314611 37314611 + Nonsense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:37314611T>A ENST00000356725.4 - 3 211 c.91A>T c.(91-93)Aga>Tga p.R31* CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA NM_001242802.1|NM_206894.3 NP_001229731.1|NP_996777.2 Q6PG37 ZN790_HUMAN zinc finger protein 790 31 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R31*(1) biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATCACATCTCTATATAAATCC 0.403000 23 108 0 0 0.027356 0 0 ZNF420 147923 broad.mit.edu 37 19 37619928 37619928 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:37619928G>T ENST00000337995.3 + 5 2250 c.2035G>T c.(2035-2037)Gac>Tac p.D679Y ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF420_ENST00000304239.7_Intron NM_144689.3 NP_653290.2 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 679 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D679Y(1) breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATGTGGGATTGACTTTAGTCA 0.373000 33 145 9.8876e-21 1.38568e-20 0.021022 1 0 OR4C16 219428 broad.mit.edu 37 11 55340087 55340087 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:55340087C>A ENST00000314634.3 + 1 484 c.484C>A c.(484-486)Ctg>Atg p.L162M NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L162M(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTTTCTTGCCCTGAGTTTGCC 0.473000 17 96 3.99206e-14 5.38239e-14 0.043863 1 0 SPICE1 152185 broad.mit.edu 37 3 113225387 113225387 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:113225387C>G ENST00000295872.4 - 2 325 c.66G>C c.(64-66)aaG>aaC p.K22N NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 22 cell division|mitosis centriole|spindle protein binding p.K22N(2) NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 TTTTCTTCTTCTTTACTTTCG 0.378000 10 33 0 0 0.008291 0 0 AQP4 361 broad.mit.edu 37 18 24441225 24441225 + Missense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:24441225A>T ENST00000383168.4 - 3 610 c.482T>A c.(481-483)cTg>cAg p.L161Q AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.L139Q|AQP4_ENST00000440832.3_Missense_Mutation_p.L139Q|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 161 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity p.L161Q(1) kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CAACTCAACCAGGAGACCATG 0.373000 6 55 0 0 0.021553 0 0 CEACAM8 1088 broad.mit.edu 37 19 43093016 43093016 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:43093016T>A ENST00000244336.5 - 4 979 c.878A>T c.(877-879)aAc>aTc p.N293I LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron NM_001816.3 NP_001807.2 P31997 CEAM8_HUMAN carcinoembryonic antigen-related cell adhesion molecule 8 293 Ig-like C2-type 2. immune response anchored to membrane|extracellular space|integral to plasma membrane p.N293I(1) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) GGATCCGCTGTTCTTTGTAGT 0.507000 17 67 0 0 0.028581 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890089 23890089 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:23890089C>A ENST00000532292.1 - 1 1086 c.992G>T c.(991-993)tGg>tTg p.W331L NM_019066.4 NP_061939.3 MAGE-like 2 p.W331L(1) breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TGGGTGCTCCCAGTCACCCGA 0.632000 4 40 0.0215528 0.0224126 0.021553 1 0 FIGN 55137 broad.mit.edu 37 2 164468117 164468117 + Nonsense_Mutation SNP A A C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:164468117A>C ENST00000333129.3 - 3 539 c.225T>G c.(223-225)taT>taG p.Y75* FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 75 nuclear matrix ATP binding|nucleoside-triphosphatase activity p.Y75*(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 AAATGCCGGAATACTTCTCTG 0.483000 7 158 0 0 0.029380 0 0 ADGRE4P 326342 broad.mit.edu 37 19 6981129 6981129 + RNA SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:6981129G>T ENST00000600751.1 - 0 550 NR_024075.1 p.A168D(1) TCCTGGAGAAGCAAAACTCGC 0.428000 4 20 0.00024832 0.000282247 0.009096 1 0 PDIA2 64714 broad.mit.edu 37 16 335705 335705 + Splice_Site SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:335705T>A ENST00000219406.6 + 7 1137 c.e7+2 PDIA2_ENST00000404312.1_Splice_Site NM_006849.2 NP_006840.2 Q13087 PDIA2_HUMAN protein disulfide isomerase family A, member 2 apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia endoplasmic reticulum lumen electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding p.?(1) breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 17 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CAAGTCAAGGTCCGCTGCAGA 0.602000 4 18 0 0 0.009096 0 0 DCAF7 10238 broad.mit.edu 37 17 61655948 61655948 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:61655948G>T ENST00000310827.4 + 2 473 c.256G>T c.(256-258)Gac>Tac p.D86Y DCAF7_ENST00000431926.1_Missense_Mutation_p.D86Y|DCAF7_ENST00000415273.2_Intron|DCAF7_ENST00000577702.1_3'UTR NM_005828.3 NP_005819.3 P61962 DCAF7_HUMAN DDB1 and CUL4 associated factor 7 86 multicellular organismal development CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus protein binding p.D86Y(1) endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 18 CGTCTATCCAGACCTACTGGC 0.502000 46 110 1.02067e-35 1.47808e-35 0.014410 1 0 DRC1 92749 broad.mit.edu 37 2 26678075 26678075 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:26678075C>T ENST00000288710.2 + 16 2214 c.2140C>T c.(2140-2142)Cta>Tta p.L714L NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) p.L714L(1) GCTGCAGGCGCTACTGCAGCA 0.602000 11 107 0 0 0.010729 0 0 ADCY2 108 broad.mit.edu 37 5 7717298 7717298 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:7717298G>C ENST00000338316.4 + 12 1740 c.1651G>C c.(1651-1653)Gaa>Caa p.E551Q RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.E371Q NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 551 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding p.E551Q(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAGATTTGAAGAAGAATTGAA 0.274000 11 131 0 0 0.016723 0 0 SLC39A6 25800 broad.mit.edu 37 18 33694102 33694102 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr18:33694102T>C ENST00000269187.5 - 7 2014 c.1801A>G c.(1801-1803)Atg>Gtg p.M601V SLC39A6_ENST00000590986.1_Missense_Mutation_p.M601V|SLC39A6_ENST00000440549.2_Missense_Mutation_p.M326V NM_012319.3 NP_036451.3 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), member 6 601 integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity p.M601V(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 41 CCATCACCCATTATCACCATC 0.483000 5 41 0 0 0.021553 0 0 NLRP5 126206 broad.mit.edu 37 19 56565024 56565024 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:56565024C>A ENST00000390649.3 + 13 3149 c.3149C>A c.(3148-3150)aCc>aAc p.T1050N NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 1050 mitochondrion|nucleolus ATP binding p.T1050N(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGTCATCTCACCGCCGCGTGC 0.562000 8 18 3.09899e-07 3.76305e-07 0.004482 1 0 SYNE2 23224 broad.mit.edu 37 14 64610661 64610661 + Missense_Mutation SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:64610661A>G ENST00000357395.3 + 84 15777 c.4633A>G c.(4633-4635)Aga>Gga p.R1545G ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.R5160G|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5160G|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1545G|SYNE2_ENST00000554584.1_Missense_Mutation_p.R5077G|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1794G Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5160 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding p.R5160G(1) NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATGCTGAATAGAAAGGTGTG 0.443000 46 165 0 0 0.042209 0 0 TDRD10 126668 broad.mit.edu 37 1 154480955 154480955 + Nonsense_Mutation SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:154480955A>T ENST00000368482.4 + 4 977 c.139A>T c.(139-141)Aag>Tag p.K47* TDRD10_ENST00000368480.3_Nonsense_Mutation_p.K47* NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 47 RRM. nucleotide binding|RNA binding p.K47*(1) breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) GGATATTTCTAAGGTATTTAT 0.373000 28 116 0 0 0.037714 0 0 CACNA1C 775 broad.mit.edu 37 12 2621976 2621976 + Splice_Site SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:2621976A>G ENST00000399655.1 + 9 1482 c.e9-1 CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000480911.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000491104.1_Splice_Site NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity p.?(4) NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CACTCTCACCAGAGAGTTTTC 0.557000 8 19 0 0 0.038147 0 0 IDUA 3425 broad.mit.edu 37 4 997818 997818 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:997818G>A ENST00000453894.1 + 10 1900 c.1812G>A c.(1810-1812)gaG>gaA p.E604E IDUA_ENST00000514224.1_Silent_p.E450E|IDUA_ENST00000247933.4_Silent_p.E582E P35475 IDUA_HUMAN iduronidase, alpha-L- 582 disaccharide metabolic process lysosome cation binding|L-iduronidase activity p.E582E(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GGACATACGAGATCCAGTTCT 0.622000 29 132 0 0 0.045705 0 0 IRGQ 126298 broad.mit.edu 37 19 44096657 44096657 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:44096657C>A ENST00000422989.1 - 3 1548 c.1393G>T c.(1393-1395)Gca>Tca p.A465S L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.A465S|IRGQ_ENST00000601520.1_Intron NM_001007561.2 NP_001007562.1 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 465 Ala-rich. protein binding p.A465S(1) endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3) 18 Prostate(69;0.0199) CTGGGAGATGCTGGTGGCAAC 0.731000 5 17 0.0215528 0.0224126 0.021553 1 0 GPD2 2820 broad.mit.edu 37 2 157407174 157407174 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:157407174C>T ENST00000310454.6 + 8 1259 c.887C>T c.(886-888)tCt>tTt p.S296F GPD2_ENST00000409674.1_Missense_Mutation_p.S296F|GPD2_ENST00000438166.2_Missense_Mutation_p.S296F|GPD2_ENST00000540309.1_Missense_Mutation_p.S296F|GPD2_ENST00000409125.4_Missense_Mutation_p.S69F NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 296 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity p.S296F(1)|p.S296Y(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 TTCACGGACTCTGTGCGCAAA 0.458000 10 60 0 0 0.006214 0 0 MYO15A 51168 broad.mit.edu 37 17 18040988 18040988 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:18040988G>A ENST00000205890.5 + 16 5208 c.4870G>A c.(4870-4872)Gag>Aag p.E1624K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1624 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity p.E1624K(1) breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CTTCCAGGAGGAGCAGGTGTG 0.498000 7 16 0 0 0.029380 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006123 118006123 + Nonsense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:118006123C>A ENST00000310754.4 - 1 613 c.427G>T c.(427-429)Gaa>Taa p.E143* NM_152402.2 NP_689615.2 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 1 143 TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane p.E143*(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 AGGCAGTTTTCAGAGATTAAA 0.393000 24 84 9.57634e-11 1.23576e-10 0.018920 1 0 P2RY10 27334 broad.mit.edu 37 X 78216922 78216922 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:78216922C>A ENST00000171757.2 + 4 1185 c.905C>A c.(904-906)cCa>cAa p.P302Q P2RY10_ENST00000544091.1_Missense_Mutation_p.P302Q NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 302 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.P302K(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CTTTTGGATCCAATTCTTTAT 0.488000 22 184 1.42536e-11 1.87648e-11 0.024334 1 0 OR11H1 81061 broad.mit.edu 37 22 16449060 16449060 + Missense_Mutation SNP T T C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr22:16449060T>C ENST00000252835.4 - 1 745 c.745A>G c.(745-747)Aga>Gga p.R249G NM_001005239.1 NP_001005239.1 Q8NG94 O11H1_HUMAN olfactory receptor, family 11, subfamily H, member 1 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R249G(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1) 11 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.208) Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211) GCCTTATGTCTCCCAGTGCTT 0.438000 36 127 0 0 0.039052 0 0 RGS22 26166 broad.mit.edu 37 8 101020769 101020769 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:101020769G>A ENST00000360863.6 - 15 2389 c.2195C>T c.(2194-2196)tCt>tTt p.S732F RGS22_ENST00000523437.1_Missense_Mutation_p.S720F|RGS22_ENST00000523287.1_Missense_Mutation_p.S551F NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 732 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.S732F(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) AAGAGTGGCAGAAGGAGCAAC 0.403000 11 82 0 0 0.010729 0 0 MYH2 4620 broad.mit.edu 37 17 10448685 10448685 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:10448685G>A ENST00000245503.5 - 5 867 c.483C>T c.(481-483)aaC>aaT p.N161N CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.N161N|MYH2_ENST00000532183.1_Silent_p.N161N NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 161 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.N161N(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ACTGATAGGCGTTGTCAGAGA 0.537000 23 179 0 0 0.027356 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136402557 136402557 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:136402557G>T ENST00000393061.3 + 3 880 c.448G>T c.(448-450)Ggg>Tgg p.G150W ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G41W|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G41W Q86TH1 ATL2_HUMAN ADAMTS-like 2 41 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding p.G41W(1) kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) TAGCCTGGAGGGGGGCACCGA 0.672000 9 60 1.58986e-06 1.90686e-06 0.008291 1 0 CREB3L2 64764 broad.mit.edu 37 7 137686407 137686407 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:137686407G>T ENST00000330387.6 - 1 396 c.45C>A c.(43-45)gaC>gaA p.D15E CREB3L2_ENST00000452463.1_Missense_Mutation_p.D15E|CREB3L2_ENST00000456390.1_Missense_Mutation_p.D15E|CREB3L2_ENST00000468127.1_5'UTR NM_194071.3 NP_919047.2 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 2 15 chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 TCAGCTTGCGGTCCCACTGCA 0.721000 T FUS fibromyxoid sarcoma 7 27 4.68919e-08 5.74756e-08 0.008291 1 0 C9orf96 169436 broad.mit.edu 37 9 136251403 136251403 + Translation_Start_Site SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr9:136251403G>A ENST00000371955.1 + 0 283 C9orf96_ENST00000426926.2_Silent_p.L74L|C9orf96_ENST00000371957.3_Silent_p.L74L Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 ATP binding|protein kinase activity p.L74L(2) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCTGGCAGCTGATGCCACTGC 0.577000 4 50 0 0 0.009096 0 0 NRROS 375387 broad.mit.edu 37 3 196387756 196387756 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:196387756C>A ENST00000328557.4 + 3 1445 c.1242C>A c.(1240-1242)ctC>ctA p.L414L NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species p.L414L(1) CCAACCAGCTCCTGGGCGTCC 0.622000 23 107 7.87624e-14 1.05829e-13 0.016522 1 0 OR6K6 128371 broad.mit.edu 37 1 158725513 158725513 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:158725513T>A ENST00000368144.2 + 1 1004 c.908T>A c.(907-909)gTc>gAc p.V303D NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V303D(1) endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) GCAATTGCTGTCACTTTTGTT 0.433000 30 80 0 0 0.037714 0 0 NALCN 259232 broad.mit.edu 37 13 102029295 102029295 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr13:102029295G>A ENST00000251127.6 - 5 569 c.488C>T c.(487-489)cCa>cTa p.P163L NALCN_ENST00000376196.3_Missense_Mutation_p.P163L|NALCN_ENST00000376200.5_Missense_Mutation_p.P163L|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 163 integral to membrane sodium channel activity|voltage-gated ion channel activity p.P163L(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TCTGGTCCTTGGCAGTTCAAA 0.378000 26 46 0 0 0.018920 0 0 MTMR12 54545 broad.mit.edu 37 5 32270928 32270928 + Nonsense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:32270928T>A ENST00000382142.3 - 5 654 c.484A>T c.(484-486)Aaa>Taa p.K162* MTMR12_ENST00000280285.5_Nonsense_Mutation_p.K162*|MTMR12_ENST00000264934.5_Nonsense_Mutation_p.K162* NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 162 cytoplasm phosphatase activity p.K162*(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GTTACCCTTTTGACTTCCTCT 0.433000 16 151 0 0 0.033300 0 0 ATP6AP1 537 broad.mit.edu 37 X 153663818 153663818 + Silent SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:153663818C>A ENST00000369762.2 + 9 1231 c.1170C>A c.(1168-1170)ccC>ccA p.P390P NM_001183.4 NP_001174.2 Q15904 VAS1_HUMAN ATPase, H+ transporting, lysosomal accessory protein 1 390 ATP hydrolysis coupled proton transport integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism p.P390P(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5) 14 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCACGCAGCCCTCTCCCTGGC 0.612000 8 46 0.000274275 0.000308165 0.004482 1 0 LRFN1 57622 broad.mit.edu 37 19 39798860 39798860 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:39798860G>T ENST00000248668.4 - 2 1728 c.1729C>A c.(1729-1731)Ccg>Acg p.P577T NM_020862.1 NP_065913.1 Q9P244 LRFN1_HUMAN leucine rich repeat and fibronectin type III domain containing 1 577 cell junction|integral to membrane|postsynaptic density|postsynaptic membrane p.P529T(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) CTGACCCGCGGGAGCGACCTG 0.692000 8 21 0.00307968 0.00327216 0.038147 1 0 MED13L 23389 broad.mit.edu 37 12 116453021 116453021 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:116453021C>G ENST00000281928.3 - 8 1274 c.1068G>C c.(1066-1068)atG>atC p.M356I NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 356 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent p.M356I(1) NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GCATCGTTATCATCCCTCCAT 0.458000 7 107 0 0 0.038147 0 0 PTGER4 5734 broad.mit.edu 37 5 40681297 40681297 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:40681297G>T ENST00000302472.3 + 2 1226 c.202G>T c.(202-204)Ggc>Tgc p.G68C PTGER4_ENST00000514343.1_3'UTR NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 68 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity p.G68C(1) breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 CGACCTGTTGGGCACTTTGTT 0.607000 OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 78 0.00116845 0.00128332 0.021553 1 0 RNPS1 10921 broad.mit.edu 37 16 2313105 2313105 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr16:2313105G>A ENST00000565678.1 - 4 956 c.411C>T c.(409-411)tcC>tcT p.S137S RNPS1_ENST00000566458.1_Silent_p.S114S|RNPS1_ENST00000567147.1_Silent_p.S114S|RNPS1_ENST00000566397.1_5'UTR|RNPS1_ENST00000569598.2_Silent_p.S43S|RNPS1_ENST00000568631.1_Silent_p.S137S|RNPS1_ENST00000397086.2_Silent_p.S137S|RNPS1_ENST00000561718.1_5'UTR|RNPS1_ENST00000301730.8_Silent_p.S137S|RNPS1_ENST00000320225.5_Silent_p.S137S Q15287 RNPS1_HUMAN RNA binding protein S1, serine-rich domain 137 Arg-rich.|Necessary for interaction with SRP54, nuclear localization and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|Ser-rich. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription cytosol|nuclear speck mRNA 3'-UTR binding|nucleotide binding|protein binding p.S137S(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1) 9 ACTTGGAGCGGGAGCGCCTCC 0.577000 3 22 0 0 0.004672 0 0 ABCC9 10060 broad.mit.edu 37 12 22086858 22086858 + Splice_Site SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:22086858C>A ENST00000261200.4 - 2 142 c.e2-1 ABCC9_ENST00000345162.2_Splice_Site|ABCC9_ENST00000326684.4_Splice_Site|ABCC9_ENST00000538350.1_Splice_Site|ABCC9_ENST00000261201.4_Splice_Site NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.?(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTCCCCCACCCTGGAAAAGAG 0.393000 13 92 1.49906e-05 1.76546e-05 0.020292 1 0 TRHDE 29953 broad.mit.edu 37 12 73012716 73012716 + Nonsense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:73012716C>A ENST00000261180.4 + 13 2328 c.2232C>A c.(2230-2232)taC>taA p.Y744* TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 744 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.Y744*(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTATCAGATACCTGTCTGAGG 0.388000 11 87 9.70103e-10 1.23958e-09 0.008291 1 0 IRAK1 3654 broad.mit.edu 37 X 153279704 153279704 + Missense_Mutation SNP T T G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:153279704T>G ENST00000369980.3 - 11 1495 c.1328A>C c.(1327-1329)gAg>gCg p.E443A IRAK1_ENST00000429936.2_Missense_Mutation_p.E469A|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393687.2_Missense_Mutation_p.E443A|IRAK1_ENST00000393682.1_Missense_Mutation_p.E469A|IRAK1_ENST00000369974.2_Intron NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 443 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|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 transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|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|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity p.E443A(2) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCAGCCTCCTCAGCCTCCTC 0.567000 7 88 0 0 0.029380 0 0 TMEM207 131920 broad.mit.edu 37 3 190147425 190147425 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:190147425C>A ENST00000354905.2 - 5 466 c.400G>T c.(400-402)Ggc>Tgc p.G134C NM_207316.1 NP_997199.1 Q6UWW9 TM207_HUMAN transmembrane protein 207 134 integral to membrane p.G134C(1) endometrium(1)|large_intestine(2)|lung(4) 7 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) GGTGGGGAGCCTAAAGGGCCA 0.408000 47 90 1.00776e-21 1.41738e-21 0.014410 1 0 SLC25A14 9016 broad.mit.edu 37 X 129484689 129484689 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:129484689C>T ENST00000543953.1 + 5 426 c.377C>T c.(376-378)cCc>cTc p.P126L SLC25A14_ENST00000218197.5_Missense_Mutation_p.P161L|SLC25A14_ENST00000545805.1_Missense_Mutation_p.P161L|SLC25A14_ENST00000339231.3_Missense_Mutation_p.P158L|SLC25A14_ENST00000361980.5_Missense_Mutation_p.P158L|SLC25A14_ENST00000467496.1_3'UTR O95258 UCP5_HUMAN solute carrier family 25 (mitochondrial carrier, brain), member 14 161 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding p.P161L(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 ATAGCCAATCCCACCGATGTT 0.398000 9 90 0 0 0.013537 0 0 POLE2 5427 broad.mit.edu 37 14 50140867 50140867 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:50140867G>A ENST00000539565.2 - 4 531 c.313C>T c.(313-315)Cgt>Tgt p.R105C POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Missense_Mutation_p.R131C|POLE2_ENST00000554396.1_Missense_Mutation_p.R131C NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 131 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity p.R131C(1) kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TATCGCTCACGAAACATCTCT 0.418000 23 331 0 0 0.021523 0 0 RNF213 57674 broad.mit.edu 37 17 78318726 78318726 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:78318726C>G ENST00000582970.1 + 29 6734 c.6591C>G c.(6589-6591)tgC>tgG p.C2197W RNF213_ENST00000336301.6_Missense_Mutation_p.C270W|RNF213_ENST00000508628.2_Missense_Mutation_p.C2246W NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 1134 p.C270W(1)|p.C2246W(1) NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGGAGGAATGCCTCCAGCATT 0.473000 9 76 0 0 0.006214 0 0 GFRA1 2674 broad.mit.edu 37 10 117849413 117849413 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr10:117849413C>G ENST00000439649.3 - 8 1388 c.1021G>C c.(1021-1023)Ggc>Cgc p.G341R GFRA1_ENST00000544592.1_Missense_Mutation_p.G225R|GFRA1_ENST00000355422.6_Missense_Mutation_p.G346R|GFRA1_ENST00000369236.1_Missense_Mutation_p.G341R NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 346 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity p.G341R(1) endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GAGCCATTGCCAAAGGCTTGA 0.517000 5 20 0 0 0.014758 0 0 GSDMC 56169 broad.mit.edu 37 8 130762329 130762329 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:130762329C>G ENST00000276708.4 - 12 2001 c.1120G>C c.(1120-1122)Ggt>Cgt p.G374R NM_031415.2 NP_113603.1 Q9BYG8 GSDMC_HUMAN gasdermin C 374 mitochondrion p.G374R(1) autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 26 ATGGCACCACCAGGGCCATCC 0.383000 8 27 0 0 0.006214 0 0 OR2T4 127074 broad.mit.edu 37 1 248525654 248525654 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:248525654C>A ENST00000366475.1 + 1 772 c.772C>A c.(772-774)Cac>Aac p.H258N NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H258N(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCTCACCATCCACGGGATGAA 0.512000 30 99 1.06801e-11 1.41557e-11 0.041601 1 0 ANK2 287 broad.mit.edu 37 4 114195639 114195639 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:114195639G>T ENST00000357077.4 + 15 1570 c.1517G>T c.(1516-1518)cGc>cTc p.R506L ANK2_ENST00000264366.6_Missense_Mutation_p.R506L|ANK2_ENST00000506722.1_Missense_Mutation_p.R485L|ANK2_ENST00000394537.3_Missense_Mutation_p.R506L NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 506 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.R506L(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATTGCCTCCCGCCTGGGTAAG 0.488000 16 49 5.35267e-07 6.47954e-07 0.043863 1 0 PDE3A 5139 broad.mit.edu 37 12 20833077 20833077 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:20833077G>A ENST00000359062.3 + 16 3338 c.3298G>A c.(3298-3300)Gaa>Aaa p.E1100K PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1100 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E1100K(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGCAGGCATAGAAAATCAATC 0.463000 26 95 0 0 0.041601 0 0 THOC2 57187 broad.mit.edu 37 X 122747257 122747257 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:122747257C>A ENST00000245838.8 - 36 4701 c.4670G>T c.(4669-4671)gGc>gTc p.G1557V THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000491737.1_Missense_Mutation_p.G1442V|THOC2_ENST00000355725.4_Missense_Mutation_p.G1557V NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1557 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding p.G1557I(1)|p.G1478I(1) breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TACCTTTTTGCCACCGGAGGA 0.284000 7 125 0.00307968 0.00327216 0.038147 1 0 OR10A5 144124 broad.mit.edu 37 11 6867752 6867752 + Missense_Mutation SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:6867752C>A ENST00000299454.4 + 1 870 c.839C>A c.(838-840)aCt>aAt p.T280N OR10A5_ENST00000379831.2_Missense_Mutation_p.T284N Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T280N(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTATCCTACACTGTTGTGACT 0.433000 30 131 1.68575e-08 2.09248e-08 0.034045 1 0 KIAA2013 90231 broad.mit.edu 37 1 11985482 11985482 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:11985482G>A ENST00000376572.3 - 1 998 c.813C>T c.(811-813)aaC>aaT p.N271N KIAA2013_ENST00000376576.3_Silent_p.N271N NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 271 integral to membrane p.N271N(1) endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTTGGAGGCGGTTCACCAGCT 0.627000 5 28 0 0 0.014758 0 0 C11orf30 56946 broad.mit.edu 37 11 76257150 76257150 + Missense_Mutation SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr11:76257150G>T ENST00000529032.1 + 19 3583 c.3583G>T c.(3583-3585)Gca>Tca p.A1195S C11orf30_ENST00000533248.1_Missense_Mutation_p.A1104S|C11orf30_ENST00000524767.1_Missense_Mutation_p.A1210S|C11orf30_ENST00000334736.3_Missense_Mutation_p.A1195S|C11orf30_ENST00000524490.1_Missense_Mutation_p.A1097S|C11orf30_ENST00000525919.1_Missense_Mutation_p.A1196S|C11orf30_ENST00000343878.3_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.A1196S Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1195 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.A1195S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CATGGTGGTGGCAGGGATGGC 0.498000 17 49 9.16793e-09 1.15634e-08 0.033300 1 0 PRDM16 63976 broad.mit.edu 37 1 3321339 3321339 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:3321339C>T ENST00000378398.3 + 8 1006 c.924C>T c.(922-924)cgC>cgT p.R308R PRDM16_ENST00000511072.1_Silent_p.R308R|PRDM16_ENST00000441472.2_Silent_p.R307R|PRDM16_ENST00000442529.2_Silent_p.R307R|PRDM16_ENST00000514189.1_Silent_p.R308R|PRDM16_ENST00000270722.5_Silent_p.R307R|PRDM16_ENST00000378391.2_Silent_p.R307R|PRDM16_ENST00000512462.1_3'UTR Q9HAZ2 PRD16_HUMAN PR domain containing 16 307 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding p.R307R(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CGGAGGAGCGCGAGTACAAAT 0.627000 T EVI1 """MDS, AML""" 4 35 0 0 0.009096 0 0 PREX1 57580 broad.mit.edu 37 20 47296204 47296204 + Silent SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr20:47296204C>T ENST00000396220.1 - 12 1546 c.1524G>A c.(1522-1524)gaG>gaA p.E508E PREX1_ENST00000371941.3_Silent_p.E508E Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 508 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.E508E(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) ACATGATGTCCTCCAGCTCAC 0.597000 7 48 0 0 0.038147 0 0 SCNM1 79005 broad.mit.edu 37 1 151138661 151138661 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:151138661T>A ENST00000368905.4 + 1 144 c.33T>A c.(31-33)agT>agA p.S11R SCNM1_ENST00000461862.1_3'UTR NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 11 mRNA processing|RNA splicing nucleus metal ion binding|protein binding p.S11R(1) breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ACGATTGGAGTCAACTCAATG 0.522000 6 8 0 0 0.029380 0 0 CSF2RB 1439 broad.mit.edu 37 22 37334309 37334309 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr22:37334309G>A ENST00000262825.5 + 14 2694 c.2477G>A c.(2476-2478)gGc>gAc p.G826D CSF2RB_ENST00000406230.1_Missense_Mutation_p.G826D|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G767D|CSF2RB_ENST00000403662.3_Missense_Mutation_p.G820D NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 820 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity p.G820D(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) CAGCAAGTGGGCGACTATTGC 0.647000 27 119 0 0 0.030593 0 0 NIN 51199 broad.mit.edu 37 14 51259545 51259545 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr14:51259545C>T ENST00000245441.5 - 5 510 c.320G>A c.(319-321)cGa>cAa p.R107Q NIN_ENST00000486200.1_5'UTR|NIN_ENST00000324330.9_Missense_Mutation_p.R107Q|NIN_ENST00000530997.2_Missense_Mutation_p.R107Q|NIN_ENST00000453196.1_Missense_Mutation_p.R107Q|NIN_ENST00000389868.3_Missense_Mutation_p.R107Q|NIN_ENST00000382043.4_Missense_Mutation_p.R107Q|NIN_ENST00000382041.3_Missense_Mutation_p.R107Q NM_020921.3 NP_065972.3 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 107 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding p.R107Q(2)|p.R113Q(1) breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) CAAGGACCTTCGTCCGTAACG 0.532000 T PDGFRB MPD 11 34 0 0 0.008291 0 0 NEU2 4759 broad.mit.edu 37 2 233899563 233899563 + Silent SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:233899563G>A ENST00000233840.3 + 2 939 c.939G>A c.(937-939)ccG>ccA p.P313P NM_005383.2 NP_005374.2 Q9Y3R4 NEUR2_HUMAN sialidase 2 (cytosolic sialidase) 313 exo-alpha-sialidase activity p.P313P(1) endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1) 18 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488) ACCTCAACCCGCGACCTCCAG 0.692000 14 72 0 0 0.033300 0 0 FAM3C 10447 broad.mit.edu 37 7 121023022 121023022 + Translation_Start_Site SNP A A G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:121023022A>G ENST00000359943.3 - 2 215 c.2T>C c.(1-3)aTg>aCg p.M1T NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 1 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity p.M1T(1) kidney(1)|lung(8) 9 all_neural(327;0.117) TGCTACCCTCATGTTTGGTTT 0.289000 6 121 0 0 0.038147 0 0 TRIM58 25893 broad.mit.edu 37 1 248028156 248028156 + Silent SNP G G T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:248028156G>T ENST00000366481.3 + 3 714 c.666G>T c.(664-666)ctG>ctT p.L222L NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 222 intracellular zinc ion binding p.L222P(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGAGCCGGCTGGTCCAGCAGA 0.687000 4 13 0.000602214 0.000670843 0.014758 1 0 TEC 7006 broad.mit.edu 37 4 48170630 48170630 + Silent SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr4:48170630T>A ENST00000381501.3 - 6 625 c.468A>T c.(466-468)gcA>gcT p.A156A NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 156 intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A156A(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 CTGGAGGTAGTGCTTTTCTTA 0.313000 15 94 0 0 0.028581 0 0 VSIG10 54621 broad.mit.edu 37 12 118506200 118506200 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:118506200C>T ENST00000359236.5 - 8 1825 c.1549G>A c.(1549-1551)Gga>Aga p.G517R NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 517 integral to membrane p.G517R(1) endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 TCCTGGAATCCATTTCCCATC 0.438000 13 131 0 0 0.020292 0 0 KIAA0355 9710 broad.mit.edu 37 19 34791643 34791643 + Missense_Mutation SNP G G A rs149799888 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:34791643G>A ENST00000299505.6 + 2 1138 c.265G>A c.(265-267)Gtc>Atc p.V89I NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 89 p.V89I(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) TGCCCTGAACGTCTTCTGCCG 0.552000 14 50 0 0 0.024245 0 0 TTC23L 153657 broad.mit.edu 37 5 34863158 34863158 + Splice_Site SNP C C A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:34863158C>A ENST00000505624.1 + 5 638 c.536_splice c.e5+1 p.R179_splice TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 179 binding p.R179S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 CCTGCAGAACCGATATCCTTC 0.537000 26 75 1.88708e-17 2.58895e-17 0.037714 1 0 ADCY10 55811 broad.mit.edu 37 1 167823640 167823640 + Missense_Mutation SNP T T A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:167823640T>A ENST00000367848.1 - 18 2480 c.1983A>T c.(1981-1983)caA>caT p.Q661H ADCY10_ENST00000545172.1_Missense_Mutation_p.Q600H|ADCY10_ENST00000367851.4_Missense_Mutation_p.Q753H Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 753 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding p.Q753H(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 ACTCCGTTTGTTGGAAAACGA 0.433000 33 106 0 0 0.012213 0 0 AMY2B 280 broad.mit.edu 37 1 104121933 104121933 + Splice_Site SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:104121933G>A ENST00000361355.4 + 12 1963 c.1346_splice c.e12-1 p.W449_splice AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 449 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding p.W449*(1) breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TATTTTACAGGACATTTTCTT 0.333000 37 311 0 0 0.030466 0 0 LARP6 55323 broad.mit.edu 37 15 71128813 71128813 + Missense_Mutation SNP G G A TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:71128813G>A ENST00000299213.8 - 2 302 c.232C>T c.(232-234)Cgt>Tgt p.R78C NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 78 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding p.R78C(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 AGGTCCTCACGCTCGTTCTCA 0.507000 11 87 0 0 0.008291 0 0 WDR72 256764 broad.mit.edu 37 15 53907714 53907714 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr15:53907714C>G ENST00000396328.1 - 15 2928 c.2689G>C c.(2689-2691)Gag>Cag p.E897Q WDR72_ENST00000557913.1_Missense_Mutation_p.E894Q|WDR72_ENST00000360509.5_Missense_Mutation_p.E897Q|WDR72_ENST00000559418.1_Missense_Mutation_p.E907Q NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 897 p.E897Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) GTATCTGACTCTCGCAAAGAA 0.348000 14 44 0 0 0.024245 0 0 TTN 7273 broad.mit.edu 37 2 179415750 179415750 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:179415750C>G ENST00000589042.1 - 336 91732 c.91508G>C c.(91507-91509)gGa>gCa p.G30503A TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G27935A|TTN_ENST00000342175.6_Missense_Mutation_p.G21630A|TTN_ENST00000359218.5_Missense_Mutation_p.G21563A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G21438A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G28862A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28862 Fibronectin type-III 122. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G21438A(1)|p.G27935A(1)|p.G21563A(1)|p.G27933A(1)|p.G21630A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCTTATAGTTCCAACAGCATT 0.408000 6 32 0 0 0.021553 0 0 ABCB4 5244 broad.mit.edu 37 7 87104728 87104728 + Silent SNP C C T rs141141860 TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr7:87104728C>T ENST00000265723.4 - 2 165 c.54G>A c.(52-54)gaG>gaA p.E18E ABCB4_ENST00000545634.1_Silent_p.E18E|ABCB4_ENST00000453593.1_Silent_p.E18E|ABCB4_ENST00000359206.3_Silent_p.E18E|ABCB4_ENST00000358400.3_Silent_p.E18E NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 18 cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.E18E(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CAAAGTCGCCCTCCGCGCTCG 0.567000 9 51 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 3000195 3000195 + Splice_Site SNP A A T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr8:3000195A>T ENST00000520002.1 - 42 6591 c.6034_splice c.e42-1 p.G2012_splice CSMD1_ENST00000602723.1_Splice_Site_p.G2012_splice|CSMD1_ENST00000400186.3_Splice_Site_p.G2012_splice|CSMD1_ENST00000602557.1_Splice_Site_p.G2012_splice|CSMD1_ENST00000542608.1_Splice_Site_p.G2011_splice|CSMD1_ENST00000539096.1_Splice_Site_p.G2011_splice|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000537824.1_Splice_Site_p.G2011_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2012 CUB 12. integral to membrane p.G2011G(1)|p.G1740G(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAATATGTGCACCTATGGAAA 0.358000 19 95 0 0 0.038395 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133114 91133114 + Missense_Mutation SNP C C G TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:91133114C>G ENST00000373094.1 + 2 2720 c.1875C>G c.(1873-1875)atC>atG p.I625M PCDH11X_ENST00000373088.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000298274.8_Missense_Mutation_p.I625M|PCDH11X_ENST00000395337.2_Missense_Mutation_p.I625M|PCDH11X_ENST00000361724.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000361655.2_Missense_Mutation_p.I625M|PCDH11X_ENST00000373097.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000406881.1_Missense_Mutation_p.I625M|PCDH11X_ENST00000504220.1_Missense_Mutation_p.I625M NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 625 Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding p.I625M(3) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTGGTGTCATCCGACCAAATA 0.383000 5 41 0 0 0.038395 0 0 ABCA8 10351 broad.mit.edu 37 17 66902272 66902272 + Missense_Mutation SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:66902272G>C ENST00000269080.2 - 17 2328 c.2191C>G c.(2191-2193)Cta>Gta p.L731V ABCA8_ENST00000586539.1_Missense_Mutation_p.L771V|ABCA8_ENST00000430352.2_Missense_Mutation_p.L771V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 731 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.L731V(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TCAATTCCTAGGTCAGGATAG 0.318000 13 100 0 0 0.013537 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858747 149858749 + In_Frame_Del DEL AAG AAG - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr1:149858747_149858749delAAG ENST00000331380.2 + 1 223_225 c.223_225delAAG c.(223-225)del p.K76del NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 76 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TCGGGACAACAAGAAGACGCGCA 0.670 12 70 --- --- --- --- SIX2 10736 broad.mit.edu 37 2 45233433 45233433 + Frame_Shift_Del DEL C C - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr2:45233433delC ENST00000303077.6 - 2 1071 c.752delG c.(751-753)gcfs p.G251fs NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 251 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGCGCTGGGGCCCGGAGGGTG 0.711 11 39 --- --- --- --- THUMPD3 25917 broad.mit.edu 37 3 9413088 9413088 + Frame_Shift_Del DEL G G - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:9413088delG ENST00000345094.3 + 4 1009 c.675delG c.(673-675)ctfs p.L225fs THUMPD3_ENST00000452837.2_Frame_Shift_Del_p.L225fs|THUMPD3_ENST00000515662.2_Frame_Shift_Del_p.L225fs|SETD5-AS1_ENST00000468186.1_RNA NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 225 THUMP. methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) CTCAAGTGCTGAAGTTTAGAG 0.403 7 110 --- --- --- --- LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 2 4 --- --- --- --- HCN1 348980 broad.mit.edu 37 5 45645511 45645511 + Frame_Shift_Del DEL C C - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:45645511delC ENST00000303230.4 - 2 682 c.625delG c.(625-627)acfs p.D209fs NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 209 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACTTTGGGGTCCAGGATGATT 0.368 22 80 --- --- --- --- PCDHGB2 56103 broad.mit.edu 37 5 140741751 140741751 + Frame_Shift_Del DEL C C - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr5:140741751delC ENST00000522605.1 + 1 2049 c.2049delC c.(2047-2049)gafs p.D683fs PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCCTCTGACCCCCAGGCAA 0.607 22 57 --- --- --- --- C6orf89 221477 broad.mit.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr6:36867370_36867371insC ENST00000480824.2 + 3 444_445 c.150_151insC c.(148-153)agccccfs p.SP50fs C6orf89_ENST00000373685.1_Frame_Shift_Ins_p.SP50fs|C6orf89_ENST00000510325.2_5'UTR|C6orf89_ENST00000355190.3_Frame_Shift_Ins_p.SP57fs|C6orf89_ENST00000359359.2_5'UTR Q6UWU4 CF089_HUMAN chromosome 6 open reading frame 89 50 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2) 15 AACCTCAGAGACCCCCCCCGCA 0.431 19 54 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045534 7045535 + Frame_Shift_Ins INS - - C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr12:7045534_7045535insC ENST00000356654.4 + 5 1341_1342 c.1104_1105insC c.(1102-1107)gcccccfs p.AP368fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.AP368fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 368 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 CTGCTCCAGCGCCCCCCATGAG 0.589 44 139 --- --- --- --- SNORD3B-1 26851 broad.mit.edu 37 17 18965364 18965373 + RNA DEL GCAACTGCCG GCAACTGCCG - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr17:18965364_18965373delGCAACTGCCG ENST00000363359.1 + 0 140_149 ttgcttggctgcaactgccgtcagccattg 0.519 5 6 --- --- --- --- AP2A1 160 broad.mit.edu 37 19 50306261 50306261 + Splice_Site DEL A A - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr19:50306261delA ENST00000354293.5 + 16 2336 c.2171_splice c.e16+1 p.K724_splice AP2A1_ENST00000359032.5_Splice_Site_p.K746_splice NM_130787.2 NP_570603.2 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 subunit 746 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2) 19 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GTTGCTGAATAAGTGAGTCCT 0.647 8 27 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 3 3 --- --- --- --- PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT GCT - TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0303d05-a937-4a7d-9934-ffa93cc1c5de a962a5fc-9fdd-42d6-9d4b-9b16a8fe2b8f g.chrX:150817142_150817144delGCT ENST00000370357.4 + 9 930_932 c.685_687delGCT c.(685-687)del p.A236del NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity p.A229A(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.433 8 217 --- --- --- ---