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 MAST2 23139 broad.mit.edu 37 1 46497980 46497980 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:46497980C>T ENST00000361297.2 + 25 3601 c.3318C>T c.(3316-3318)atC>atT p.I1106I MAST2_ENST00000372009.2_Intron NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1106 PDZ. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCCCATCATCATCCACCGAG 0.572 4 117 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103544235 103544235 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:103544235G>A ENST00000358392.2 - 3 784 c.467C>T c.(466-468)aCt>aTt p.T156I COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I|COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 156 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.T156I(2)|p.T156S(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GATGTTAACAGTTCTGAAGAG 0.368 68 88 --- --- --- --- KIF14 9928 broad.mit.edu 37 1 200587742 200587742 + Missense_Mutation SNP T T G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:200587742T>G ENST00000367350.4 - 2 548 c.110A>C c.(109-111)aAg>aCg p.K37T NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 37 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding p.K37T(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CAAATGCAGCTTAAGTCGGCT 0.368 48 161 --- --- --- --- LGR6 59352 broad.mit.edu 37 1 202245638 202245638 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr1:202245638C>T ENST00000367278.3 + 5 722 c.633C>T c.(631-633)agC>agT p.S211S LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.S159S|LGR6_ENST00000439764.2_Intron NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 211 integral to membrane|plasma membrane protein-hormone receptor activity p.S211S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 ATCTCACCAGCCTTGTGGTGC 0.617 12 19 --- --- --- --- STAMBP 10617 broad.mit.edu 37 2 74072296 74072296 + Silent SNP A A G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:74072296A>G ENST00000394070.2 + 4 785 c.282A>G c.(280-282)aaA>aaG p.K94K STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K NM_213622.2 NP_998787.1 O95630 STABP_HUMAN STAM binding protein 94 Interaction with CHMP3. JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding p.K94K(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 18 TGTCTCAGAAATTAAAGGAGA 0.343 41 53 --- --- --- --- HJURP 55355 broad.mit.edu 37 2 234756069 234756069 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr2:234756069C>G ENST00000411486.2 - 5 441 c.376G>C c.(376-378)Gaa>Caa p.E126Q HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron NM_018410.3 NP_060880.3 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 126 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding p.E126Q(1) NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) ACTGACTCTTCCTGGTCTGAC 0.488 7 128 --- --- --- --- SUMF1 285362 broad.mit.edu 37 3 4458835 4458835 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:4458835C>T ENST00000272902.5 - 6 852 c.817G>A c.(817-819)Gat>Aat p.D273N SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N NM_182760.3 NP_877437.2 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 273 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3) 13 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) TGGAAGCCATCCTCACCAGTG 0.552 7 403 --- --- --- --- MSL2 55167 broad.mit.edu 37 3 135870947 135870947 + Missense_Mutation SNP T T A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:135870947T>A ENST00000309993.2 - 2 1508 c.776A>T c.(775-777)gAt>gTt p.D259V MSL2_ENST00000434835.2_Missense_Mutation_p.D185V NM_018133.3 NP_060603.2 Q9HCI7 MSL2_HUMAN male-specific lethal 2 homolog (Drosophila) 259 histone H4-K16 acetylation MSL complex zinc ion binding p.D259V(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 18 AGGTTTTATATCTTCACTGAA 0.448 57 156 --- --- --- --- SLC9A9 285195 broad.mit.edu 37 3 143100949 143100949 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:143100949C>T ENST00000316549.6 - 13 1685 c.1477G>A c.(1477-1479)Gtg>Atg p.V493M SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 493 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TCCAGGTCCACGCCAACTCTG 0.438 6 573 --- --- --- --- POLN 353497 broad.mit.edu 37 4 2097644 2097644 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:2097644C>G ENST00000511885.2 - 20 2352 c.1999G>C c.(1999-2001)Gaa>Caa p.E667Q POLN_ENST00000382865.1_Missense_Mutation_p.E667Q Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 667 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) GTCACCTGTTCCACGGGCACA 0.602 DNA polymerases (catalytic subunits) 3 119 --- --- --- --- PPP2R2C 5522 broad.mit.edu 37 4 6377648 6377648 + Missense_Mutation SNP G G C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:6377648G>C ENST00000335585.5 - 4 368 c.345C>G c.(343-345)atC>atG p.I115M PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 115 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity p.I115M(1) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 TCCATAATTTGATAGTTTTAT 0.413 10 234 --- --- --- --- MFSD8 256471 broad.mit.edu 37 4 128843022 128843022 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr4:128843022C>G ENST00000296468.3 - 11 1222 c.1095G>C c.(1093-1095)caG>caC p.Q365H MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H|MFSD8_ENST00000515130.1_Intron NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 365 cell death|transmembrane transport integral to membrane|lysosomal membrane p.Q365H(1) cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 TACCTTCCCACTGTATTTTGG 0.373 30 60 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98192174 98192174 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:98192174C>T ENST00000284049.3 - 35 5192 c.5043G>A c.(5041-5043)caG>caA p.Q1681Q NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1681 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.Q1681Q(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AAGGAGATCTCTGATCTAGTG 0.443 53 21 --- --- --- --- CHD1 1105 broad.mit.edu 37 5 98192340 98192340 + Missense_Mutation SNP C C G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:98192340C>G ENST00000284049.3 - 35 5026 c.4877G>C c.(4876-4878)aGa>aCa p.R1626T NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1626 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding p.R1626T(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AGAATGAGATCTATCTTTTAA 0.383 71 18 --- --- --- --- CCNG1 900 broad.mit.edu 37 5 162868107 162868107 + Nonsense_Mutation SNP T T A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr5:162868107T>A ENST00000340828.2 + 3 512 c.288T>A c.(286-288)tgT>tgA p.C96* CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000511683.2_5'UTR|AC112205.1_ENST00000599797.1_Intron NM_004060.3 NP_004051.1 P51959 CCNG1_HUMAN cyclin G1 96 cell division|mitosis|regulation of cyclin-dependent protein kinase activity nucleus p.C96*(1) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164) ACCTTGGGTGTGTTGGACTGA 0.368 60 82 --- --- --- --- CTGF 1490 broad.mit.edu 37 6 132271204 132271204 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr6:132271204C>A ENST00000367976.3 - 4 838 c.638G>T c.(637-639)tGt>tTt p.C213F NM_001901.2 NP_001892 P29279 CTGF_HUMAN connective tissue growth factor 213 TSP type-1. cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding plasma membrane|proteinaceous extracellular matrix heparin binding|insulin-like growth factor binding p.C213F(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 13 Breast(56;0.0602) GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169) GCCCATCCCACAGGTCTTGGA 0.587 OREG0017666 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 77 --- --- --- --- ABCB5 340273 broad.mit.edu 37 7 20778650 20778650 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:20778650C>T ENST00000404938.2 + 24 3564 c.2912C>T c.(2911-2913)aCg>aTg p.T971M ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 526 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.T526M(1)|p.T971M(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 ATCGGAGAAACGCTCGTTTTG 0.418 27 111 --- --- --- --- ZNF713 349075 broad.mit.edu 37 7 56007656 56007656 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:56007656G>T ENST00000429591.2 + 4 1288 c.1250G>T c.(1249-1251)tGt>tTt p.C417F MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C417F(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) GAATATAAATGTGAGCAAACT 0.388 105 86 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98508784 98508784 + Nonsense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr7:98508784G>T ENST00000359863.4 + 17 2106 c.1897G>T c.(1897-1899)Gag>Tag p.E633* TRRAP_ENST00000355540.3_Nonsense_Mutation_p.E633*|TRRAP_ENST00000446306.3_Nonsense_Mutation_p.E632* NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 633 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGAGGTATTGGAGCATTTCGC 0.433 4 177 --- --- --- --- TRPA1 8989 broad.mit.edu 37 8 72963064 72963064 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr8:72963064G>A ENST00000262209.4 - 15 2061 c.1854C>T c.(1852-1854)ggC>ggT p.G618G RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 618 integral to plasma membrane p.G618G(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GACATTTATTGCCTGGAGAAT 0.338 56 108 --- --- --- --- POU5F1B 5462 broad.mit.edu 37 8 128428780 128428780 + Silent SNP A A C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr8:128428780A>C ENST00000465342.2 + 2 1826 c.669A>C c.(667-669)gcA>gcC p.A223A POU5F1B_ENST00000391675.1_Silent_p.A223A|CASC8_ENST00000502082.1_RNA|CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A223A(2) lung(1)|prostate(1)|urinary_tract(1) 3 TATGCAAAGCAGAAACCCTCA 0.507 17 18 --- --- --- --- SARDH 1757 broad.mit.edu 37 9 136573417 136573417 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr9:136573417G>T ENST00000371872.4 - 11 1719 c.1462C>A c.(1462-1464)Ctg>Atg p.L488M SARDH_ENST00000422262.2_Missense_Mutation_p.L320M|SARDH_ENST00000439388.1_Missense_Mutation_p.L488M NM_007101.3 NP_009032.2 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase 488 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity p.L488M(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 44 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) ACCTCGTGCAGCGGGTCTCTC 0.632 12 76 --- --- --- --- HIPK3 10114 broad.mit.edu 37 11 33373268 33373268 + Silent SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr11:33373268T>C ENST00000303296.4 + 15 3227 c.2922T>C c.(2920-2922)caT>caC p.H974H HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H NM_005734.3 NP_005725.3 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 974 Required for localization to nuclear speckles (By similarity). anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity p.H974H(1) endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 39 AGGACACTCATGAAAACACAG 0.483 40 139 --- --- --- --- SP1 6667 broad.mit.edu 37 12 53804756 53804756 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:53804756G>A ENST00000426431.2 + 6 2129 c.2069G>A c.(2068-2070)aGg>aAg p.R690K SP1_ENST00000327443.4_Missense_Mutation_p.R697K NM_003109.1 NP_003100.1 P08047 SP1_HUMAN Sp1 transcription factor 697 VZV IE62-binding. positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter cytoplasm double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.R697K(1) breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.00527) CGCTTCATGAGGAGTGACCAC 0.493 143 195 --- --- --- --- LRIG3 121227 broad.mit.edu 37 12 59283855 59283855 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:59283855G>A ENST00000320743.3 - 5 868 c.582C>T c.(580-582)ctC>ctT p.L194L LRIG3_ENST00000379141.4_Silent_p.L134L NM_153377.4 NP_700356.2 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like domains 3 194 integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) TTAACACAAGGAGTGTGTTGG 0.423 T ROS1 NSCLC 6 412 --- --- --- --- OTOGL 283310 broad.mit.edu 37 12 80658832 80658832 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr12:80658832G>T ENST00000458043.2 + 19 2045 c.2039G>T c.(2038-2040)tGc>tTc p.C680F OTOGL_ENST00000547103.1_Missense_Mutation_p.C680F NM_173591.3 NP_775862.3 otogelin-like p.C680F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTTGCTCCTTGCCACATCTAT 0.493 172 270 --- --- --- --- TPPP2 122664 broad.mit.edu 37 14 21498804 21498804 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr14:21498804G>A ENST00000321760.6 + 2 212 c.64G>A c.(64-66)Ggc>Agc p.G22S TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S NM_173846.4 NP_776245.2 P59282 TPPP2_HUMAN tubulin polymerization-promoting protein family member 2 22 cytoplasm p.G22S(1) endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(95;0.000759) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATCAAGCAGTGGCACTGAAAT 0.517 28 36 --- --- --- --- SPG11 80208 broad.mit.edu 37 15 44944401 44944401 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:44944401C>A ENST00000261866.7 - 5 949 c.933G>T c.(931-933)aaG>aaT p.K311N SPG11_ENST00000427534.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N|SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 311 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CATCTACGCCCTTAGGTCCTT 0.373 4 181 --- --- --- --- DPP8 54878 broad.mit.edu 37 15 65780073 65780073 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:65780073T>C ENST00000341861.5 - 7 2538 c.958A>G c.(958-960)Atg>Gtg p.M320V DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V|DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 320 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity p.M304V(1) NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTTTCCAACATAGGGGATGTA 0.338 20 247 --- --- --- --- MYO9A 4649 broad.mit.edu 37 15 72193592 72193592 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:72193592G>T ENST00000356056.5 - 23 3562 c.3090C>A c.(3088-3090)ttC>ttA p.F1030L MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1030 IQ 1.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity p.F1030L(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GCAAGACCCTGAACCATCGCT 0.453 42 75 --- --- --- --- FES 2242 broad.mit.edu 37 15 91428783 91428783 + Missense_Mutation SNP C C A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:91428783C>A ENST00000328850.3 + 3 497 c.355C>A c.(355-357)Cag>Aag p.Q119K FES_ENST00000394300.3_Intron|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000414248.2_Intron NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 119 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.Q119K(2) lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CTACAGCGAGCAGTGGCAGCA 0.597 12 17 --- --- --- --- FAM174B 400451 broad.mit.edu 37 15 93162648 93162648 + Missense_Mutation SNP A A G TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr15:93162648A>G ENST00000555748.1 - 3 447 c.94T>C c.(94-96)Tgg>Cgg p.W32R FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R|FAM174B_ENST00000327355.5_3'UTR|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000553393.1_Intron Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 0 integral to membrane endometrium(2)|lung(1) 3 GCAGCTGACCAACTTTCCACA 0.527 19 28 --- --- --- --- ELMO3 79767 broad.mit.edu 37 16 67234423 67234423 + Nonsense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:67234423G>A ENST00000393997.2 + 6 699 c.642G>A c.(640-642)tgG>tgA p.W214* ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|ELMO3_ENST00000571638.1_3'UTR NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 161 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding p.W214*(1) cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TGGTGTCCTGGGAGACTCTGA 0.652 3 68 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67305047 67305047 + Silent SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr16:67305047C>T ENST00000299798.11 + 16 2690 c.2625C>T c.(2623-2625)acC>acT p.T875T NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 875 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.T875T(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) AGGACCACACCCATCTCAGCC 0.662 4 31 --- --- --- --- DHRS13 147015 broad.mit.edu 37 17 27229944 27229944 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:27229944C>T ENST00000378895.4 - 1 145 c.19G>A c.(19-21)Ggc>Agc p.G7S DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S|DHRS13_ENST00000394901.3_5'UTR NM_144683.3 NP_653284.2 Q6UX07 DHR13_HUMAN dehydrogenase/reductase (SDR family) member 13 7 extracellular region binding|oxidoreductase activity p.G7S(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AACCCCGCGCCCAGCAGCAGC 0.756 5 12 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458 Prostate(2;0.17) 139 222 --- --- --- --- SRSF1 6426 broad.mit.edu 37 17 56083187 56083187 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr17:56083187T>C ENST00000582730.2 - 3 650 c.527A>G c.(526-528)gAt>gGt p.D176G SRSF1_ENST00000258962.4_Missense_Mutation_p.D176G|SRSF1_ENST00000584773.1_Missense_Mutation_p.D176G|SRSF1_ENST00000585096.1_Intron NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 176 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding p.D176G(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTTAGTGTTATCCAGTTTTCG 0.403 85 117 --- --- --- --- OR10H3 26532 broad.mit.edu 37 19 15852413 15852413 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:15852413G>A ENST00000305892.1 + 1 211 c.211G>A c.(211-213)Gag>Aag p.E71K NM_013938.1 NP_039226.1 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, member 3 71 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E71K(1) cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTCCATCTCTGAGATTCTGTT 0.498 21 764 --- --- --- --- FCGBP 8857 broad.mit.edu 37 19 40420067 40420067 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:40420067C>T ENST00000221347.6 - 6 2934 c.2927G>A c.(2926-2928)gGc>gAc p.G976D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 976 VWFD 2. extracellular region protein binding p.G976D(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACAGTCAGGCCAAAGTCCGT 0.592 37 60 --- --- --- --- ERCC2 2068 broad.mit.edu 37 19 45858059 45858059 + Missense_Mutation SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr19:45858059G>A ENST00000391945.4 - 17 1671 c.1594C>T c.(1594-1596)Cct>Tct p.P532S ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 532 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.P532S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) ATGCCATCAGGGACCACAGCG 0.627 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 67 145 --- --- --- --- CRNKL1 51340 broad.mit.edu 37 20 20028414 20028414 + Missense_Mutation SNP T T C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr20:20028414T>C ENST00000377340.2 - 6 1131 c.1100A>G c.(1099-1101)gAg>gGg p.E367G CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G|CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 367 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 GATATATCGCTCATAAATGGT 0.517 3 103 --- --- --- --- CACNG2 10369 broad.mit.edu 37 22 36960764 36960764 + Silent SNP G G A TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr22:36960764G>A ENST00000300105.6 - 4 1587 c.606C>T c.(604-606)atC>atT p.I202I NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 202 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.I202I(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 TGTGCCGGTCGATAAACATGT 0.622 142 194 --- --- --- --- KLHL13 90293 broad.mit.edu 37 X 117043609 117043609 + Missense_Mutation SNP G G T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chrX:117043609G>T ENST00000371876.1 - 4 3289 c.868C>A c.(868-870)Cac>Aac p.H290N KLHL13_ENST00000371878.1_Missense_Mutation_p.H290N|KLHL13_ENST00000541812.1_Missense_Mutation_p.H325N|KLHL13_ENST00000469946.1_Missense_Mutation_p.H290N|KLHL13_ENST00000545703.1_Missense_Mutation_p.H299N|KLHL13_ENST00000540167.1_Missense_Mutation_p.H325N|KLHL13_ENST00000262820.3_Missense_Mutation_p.H341N|KLHL13_ENST00000371882.1_Missense_Mutation_p.H290N|KLHL13_ENST00000539496.1_Missense_Mutation_p.H344N Q9P2N7 KLH13_HUMAN kelch-like family member 13 341 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex p.H341N(1) NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 GTAACCAAGTGAGTGGTGTCA 0.473 5 150 --- --- --- --- MAPKAPK3 7867 broad.mit.edu 37 3 50655021 50655042 + Frame_Shift_Del DEL CAGGGGGGCCCTGTGCCCCCGC CAGGGGGGCCCTGTGCCCCCGC - rs149349769 byFrequency TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e272bea-9193-4c10-a802-f7e18b2937a3 ebc70303-3561-4cf6-a274-8c83d1d5f9bd g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC ENST00000446044.1 + 4 621_642 c.25_46delCAGGGGGGCCCTGTGCCCCCGC c.(25-48)caggggggccctgtgcccccgccafs p.QGGPVPPP9fs MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 9 activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC 0.698 9 68 --- --- --- ---