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 CD180 4064 broad.mit.edu 37 5 66492382 66492382 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:66492382C>G ENST00000256447.4 - 1 245 c.88G>C c.(88-90)Gag>Cag p.E30Q NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 30 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGACTCACCTCAATGCACATC 0.458000 16 38 0 0 1 0 0 ECT2L 345930 broad.mit.edu 37 6 139206877 139206877 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:139206877C>T ENST00000423192.1 + 17 2330 c.2169C>T c.(2167-2169)gtC>gtT p.V723V ECT2L_ENST00000367682.2_Silent_p.V723V|ECT2L_ENST00000541398.1_Intron Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 oncogene-like 723 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1) 30 TCTACGCTGTCAGGCTTCATA 0.468000 """N, Splice, Mis""" ETP ALL 14 25 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53186507 53186507 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:53186507G>A ENST00000417996.2 - 4 1085 c.1011C>T c.(1009-1011)acC>acT p.T337T KRT3_ENST00000309505.3_Silent_p.T337T NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 337 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CGTCGTAGAGGGTCCTTAAGA 0.478000 29 80 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75157088 75157088 + RNA SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:75157088C>T ENST00000418756.1 - 0 365 NR_028059.1 lung(1) 1 AGATCCGCCTCCCTGGGGCTC 0.711000 3 0 0 0 1 0 0 PPP2CB 5516 broad.mit.edu 37 8 30657175 30657175 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:30657175C>T ENST00000221138.4 - 2 649 c.199G>A c.(199-201)Gaa>Aaa p.E67K PPP2CB_ENST00000520500.1_5'UTR|PPP2CB_ENST00000518564.1_Intron NM_001009552.1 NP_001009552.1 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta isozyme 67 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 9 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) CTAAAGAGTTCCATAAGATCA 0.388000 24 88 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496622 20496622 + RNA SNP A A T rs2601530 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:20496622A>T ENST00000555186.1 + 0 675 NR_038836.1 AAGTGGCCTCATGAAGGGGAA 0.438000 4 42 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005093 150005093 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:150005093G>A ENST00000543571.1 - 4 1679 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L LATS1_ENST00000253339.5_Silent_p.L378L|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Silent_p.L378L NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 378 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GCTGCTGTCAGAGGATATGGA 0.468000 59 29 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122432349 122432349 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:122432349C>T ENST00000474629.2 + 10 3964 c.3698C>T c.(3697-3699)tCt>tTt p.S1233F NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1233 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CAGGTGGCTTCTGGAGATATC 0.378000 12 31 0 0 1 0 0 KANSL1 284058 broad.mit.edu 37 17 44144079 44144079 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:44144079C>T ENST00000262419.6 - 6 2142 c.1672G>A c.(1672-1674)Gac>Aac p.D558N KANSL1_ENST00000575318.1_Missense_Mutation_p.D558N|KANSL1_ENST00000432791.1_Missense_Mutation_p.D558N|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000574590.1_Missense_Mutation_p.D558N|KANSL1_ENST00000572904.1_Missense_Mutation_p.D558N NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 558 MLL1 complex protein binding GGAATGTGGTCTGCCAAGACA 0.418000 13 16 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1725548 1725548 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:1725548G>A ENST00000313288.4 + 3 362 c.256G>A c.(256-258)Gac>Aac p.D86N NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 86 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) CACTCAGGATGACACCCTTGG 0.527000 17 26 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992647 42992647 + Missense_Mutation SNP G G A rs60343255 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:42992647G>A ENST00000253408.5 - 1 273 c.208C>T c.(208-210)Cgg>Tgg p.R70W GFAP_ENST00000435360.2_Missense_Mutation_p.R70W|GFAP_ENST00000586793.1_Missense_Mutation_p.R70W|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 70 Head. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) ATCTCTGCCCGCTCACTGGCC 0.607000 3 37 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124408911 124408911 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:124408911G>A ENST00000409039.3 + 66 11369 c.11344G>A c.(11344-11346)Gaa>Aaa p.E3782K CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3782 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTTTTATCAGAAATGTTTTC 0.438000 11 4 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981872 201981872 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:201981872G>A ENST00000359651.3 + 4 3775 c.583G>A c.(583-585)Gac>Aac p.D195N ELF3_ENST00000367284.5_Missense_Mutation_p.D195N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.D195N P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 195 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TGGCAGCTCTGACGTCTCCAC 0.667000 10 24 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27556794 27556794 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:27556794G>A ENST00000356183.4 - 2 287 c.272C>T c.(271-273)cCg>cTg p.P91L GTF3C1_ENST00000561623.1_Missense_Mutation_p.P91L NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 91 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 CAAAGCCACCGGGTCCCTCCT 0.418000 12 47 0 0 1 0 0 OLFML2B 25903 broad.mit.edu 37 1 161987260 161987260 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:161987260T>C ENST00000294794.3 - 3 899 c.476A>G c.(475-477)tAt>tGt p.Y159C OLFML2B_ENST00000367940.2_Missense_Mutation_p.Y159C NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 159 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ATCCAGGCCATAGAACGCTCC 0.493000 20 50 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43600730 43600730 + Missense_Mutation SNP A A G rs142594802 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:43600730A>G ENST00000372806.3 + 2 142 c.47A>G c.(46-48)aAg>aGg p.K16R STK4_ENST00000487587.1_3'UTR|STK4_ENST00000372801.1_Missense_Mutation_p.K16R|STK4_ENST00000499879.2_Missense_Mutation_p.K16R|STK4_ENST00000396731.4_Missense_Mutation_p.K16R NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 16 apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) CAGCTGAAAAAGTTGGATGAA 0.299000 6 126 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50346391 50346391 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:50346391G>A ENST00000338821.5 - 2 459 c.195C>T c.(193-195)ttC>ttT p.F65F ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Silent_p.F50F|ATP9A_ENST00000402822.1_Silent_p.F65F NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 65 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F65L(1) breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GAAAGGTGAAGAAATTGTACT 0.507000 14 80 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124408399 124408399 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:124408399G>C ENST00000409039.3 + 65 11267 c.11242G>C c.(11242-11244)Gat>Cat p.D3748H NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3748 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGAAGAACTAGATTTCTTTTT 0.383000 3 10 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 985535 985535 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:985535G>C ENST00000448903.2 + 8 1056 c.915G>C c.(913-915)aaG>aaC p.K305N AP2A2_ENST00000332231.5_Missense_Mutation_p.K306N|AP2A2_ENST00000534328.1_Missense_Mutation_p.K305N NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 305 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|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|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CCAACGCGAAGAATGCCGTGC 0.582000 23 14 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474506 228474506 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:228474506G>T ENST00000570156.2 + 40 10671 c.10597G>T c.(10597-10599)Gat>Tat p.D3533Y OBSCN_ENST00000284548.11_Missense_Mutation_p.D3104Y|OBSCN_ENST00000366707.4_Missense_Mutation_p.D223Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.D3104Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.D1951Y|OBSCN_ENST00000366709.4_Missense_Mutation_p.D223Y NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2566 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGAGCTCACAGATGCCACCAT 0.627000 29 15 2.80507e-11 2.99125e-11 1 1 0 MORF4L1 10933 broad.mit.edu 37 15 79178490 79178490 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:79178490G>A ENST00000331268.5 + 5 484 c.280G>A c.(280-282)Gaa>Aaa p.E94K MORF4L1_ENST00000426013.2_Missense_Mutation_p.E55K|MORF4L1_ENST00000379535.4_Missense_Mutation_p.E80K|MORF4L1_ENST00000561171.1_3'UTR|MORF4L1_ENST00000558746.1_Missense_Mutation_p.E55K|MORF4L1_ENST00000559345.1_5'UTR|MORF4L1_ENST00000558502.1_5'UTR NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 94 double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CAGTTGGGATGAATGGGTTCC 0.378000 7 30 0 0 1 0 0 TLL1 7092 broad.mit.edu 37 4 167020485 167020485 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:167020485C>A ENST00000061240.2 + 20 3360 c.2713C>A c.(2713-2715)Cag>Aag p.Q905K TLL1_ENST00000507499.1_Missense_Mutation_p.Q928K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 905 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) CTCACATGCTCAGTTTGGTGA 0.428000 62 71 1.07751e-37 1.18575e-37 1 1 0 ADAT1 23536 broad.mit.edu 37 16 75654168 75654168 + Silent SNP C C T rs143596497 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:75654168C>T ENST00000307921.3 - 4 379 c.234G>A c.(232-234)aaG>aaA p.K78K NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 78 A to I editase. tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 GCTTACCGTTCTTCCTCATTT 0.438000 49 25 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2980818 2980818 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:2980818G>A ENST00000399667.2 + 4 1096 c.733G>A c.(733-735)Gag>Aag p.E245K FLYWCH1_ENST00000416288.2_Missense_Mutation_p.E244K|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.E245K Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 245 Poly-Glu. nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GGAGGAGGAGGAGGCACCCCG 0.701000 5 7 0 0 1 0 0 SAP18 10284 broad.mit.edu 37 13 21721003 21721003 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:21721003G>C ENST00000382533.4 + 3 338 c.299G>C c.(298-300)aGa>aCa p.R100T SAP18_ENST00000607003.1_Missense_Mutation_p.R81T NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A-associated protein, 18kDa 81 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|plasma membrane protein binding|transcription corepressor activity kidney(1)|large_intestine(1)|lung(4) 6 all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147) all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941) CCAGAAGCTAGAAAGAAGGGC 0.343000 35 25 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148511215 148511215 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:148511215G>C ENST00000320356.2 - 15 1808 c.1687C>G c.(1687-1689)Ccg>Gcg p.P563A EZH2_ENST00000476773.1_Missense_Mutation_p.P507A|EZH2_ENST00000460911.1_Missense_Mutation_p.P558A|EZH2_ENST00000541220.1_Missense_Mutation_p.P507A|EZH2_ENST00000478654.1_Missense_Mutation_p.P507A|EZH2_ENST00000350995.2_Missense_Mutation_p.P519A|EZH2_ENST00000483967.1_Missense_Mutation_p.P549A NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 558 Cys-rich. negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CGGCATCCCGGAAAGCGGTTT 0.542000 Mis DLBCL 17 56 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110882414 110882414 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:110882414G>A ENST00000369784.3 + 1 1287 c.387G>A c.(385-387)ccG>ccA p.P129P RBM15_ENST00000487146.2_Silent_p.P129P|RBM15_ENST00000602849.1_Silent_p.P129P NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 129 Gly/Ser-rich. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) ATAGCTCCCCGAGCACCAAAA 0.657000 T MKL1 acute megakaryocytic leukemia OREG0013656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 17 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50472321 50472321 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:50472321C>G ENST00000228468.4 + 6 1340 c.955C>G c.(955-957)Ctg>Gtg p.L319V ASIC1_ENST00000552438.1_Missense_Mutation_p.L353V|ASIC1_ENST00000447966.2_Missense_Mutation_p.L319V NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 319 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GACGCGCTACCTGGTGGAGAA 0.597000 35 41 0 0 1 0 0 ZNF236 7776 broad.mit.edu 37 18 74639936 74639936 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:74639936G>A ENST00000253159.8 + 25 4660 c.4462G>A c.(4462-4464)Ggc>Agc p.G1488S ZNF236_ENST00000320610.9_Missense_Mutation_p.G1490S NM_007345.3 NP_031371.3 Q9UL36 ZN236_HUMAN zinc finger protein 236 1488 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 94 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GTCCCCCTCCGGCGGTCCCCA 0.552000 14 67 0 0 1 0 0 CPA4 51200 broad.mit.edu 37 7 129950685 129950685 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:129950685G>A ENST00000222482.4 + 9 880 c.852G>A c.(850-852)tcG>tcA p.S284S CPA4_ENST00000445470.2_Silent_p.S251S|CPA4_ENST00000493259.1_Silent_p.S180S NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 284 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) ACGCCAATTCGGAAGTGGAGG 0.493000 29 52 0 0 1 0 0 PNPLA2 57104 broad.mit.edu 37 11 821978 821978 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:821978C>A ENST00000336615.4 + 4 643 c.441C>A c.(439-441)ttC>ttA p.F147L NM_020376.3 NP_065109.1 Q96AD5 PLPL2_HUMAN patatin-like phospholipase domain containing 2 147 Patatin. negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process integral to membrane|lipid particle|plasma membrane triglyceride lipase activity p.F147F(1) breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1) 9 all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGCGGTTTCATCCCCGTGT 0.632000 11 31 4.36969e-10 4.58865e-10 1 1 0 CLIC3 9022 broad.mit.edu 37 9 139889971 139889971 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:139889971G>A ENST00000494426.1 - 3 451 c.192C>T c.(190-192)atC>atT p.I64I CLIC3_ENST00000480181.1_5'UTR NM_004669.2 NP_004660.2 O95833 CLIC3_HUMAN chloride intracellular channel 3 64 GST N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity lung(1)|skin(1) 2 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CATAGAGCAGGATGGGCAGCT 0.697000 12 37 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44873229 44873229 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:44873229C>G ENST00000395794.2 - 4 434 c.391G>C c.(391-393)Gaa>Caa p.E131Q CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000343575.6_3'UTR|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000374426.2_Intron NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) CAGCTCCATTCTGGAGGAGGC 0.562000 9 12 0 0 1 0 0 UBA52 7311 broad.mit.edu 37 19 18684149 18684149 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:18684149C>T ENST00000442744.2 + 2 97 c.39C>T c.(37-39)atC>atT p.I13I UBA52_ENST00000599595.1_Silent_p.I13I|UBA52_ENST00000430157.2_Silent_p.I13I|UBA52_ENST00000599551.1_Silent_p.I13I|UBA52_ENST00000595158.1_Silent_p.I13I|UBA52_ENST00000596273.1_Silent_p.I13I|UBA52_ENST00000596304.1_Silent_p.I13I|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000597451.1_Silent_p.I13I|UBA52_ENST00000598780.1_Silent_p.I13I|UBA52_ENST00000595683.1_Silent_p.I13I NM_001033930.1 NP_001029102.1 P62987 RL40_HUMAN ubiquitin A-52 residue ribosomal protein fusion product 1 13 Ubiquitin-like. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome protein binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 GCAAAACCATCACCCTTGAGG 0.532000 5 24 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55746985 55746985 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:55746985C>G ENST00000349456.4 + 1 196 c.48C>G c.(46-48)atC>atG p.I16M CCDC104_ENST00000339012.3_Missense_Mutation_p.I16M|CCDC104_ENST00000407816.3_Missense_Mutation_p.I16M|CCDC104_ENST00000406691.3_Missense_Mutation_p.I16M|CCDC104_ENST00000403007.3_Missense_Mutation_p.I16M Q96G28 CC104_HUMAN coiled-coil domain containing 104 16 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGGAGAGCATCGCGGGGTTCC 0.592000 14 103 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26237295 26237295 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:26237295C>T ENST00000354667.4 - 3 268 c.100G>A c.(100-102)Gaa>Aaa p.E34K HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E22K NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 34 RRM 1. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AAACTTTCTTCTGTGGTTTCA 0.348000 T ETV1 prostate 5 18 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37271928 37271928 + Splice_Site SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:37271928C>T ENST00000373091.3 - 14 2108 c.e14-1 GRIK3_ENST00000373093.4_Splice_Site NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TCTTGGATTTCTGGGCCGTGA 0.597000 7 5 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937739 33937739 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:33937739C>T ENST00000330120.3 + 1 1249 c.894C>T c.(892-894)cgC>cgT p.R298R NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 298 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CCGACCGCCGCGCGGCGGGGA 0.662000 4 7 0 0 1 0 0 MLKL 197259 broad.mit.edu 37 16 74729201 74729201 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:74729201C>G ENST00000308807.7 - 2 918 c.455G>C c.(454-456)aGa>aCa p.R152T MLKL_ENST00000306247.7_Missense_Mutation_p.R152T NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 152 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 CTTGCCTCTTCTTAGCATCTG 0.502000 16 64 0 0 1 0 0 SEPT10 151011 broad.mit.edu 37 2 110301744 110301744 + Silent SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:110301744T>C ENST00000356688.4 - 12 1905 c.1590A>G c.(1588-1590)gaA>gaG p.E530E SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397712.2_3'UTR Q9P0V9 SEP10_HUMAN septin 10 0 cell cycle|cell division septin complex GTP binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 GAAAGTACTTTTCCATAAATA 0.303000 8 5 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108624955 108624955 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:108624955C>G ENST00000264047.2 + 8 1206 c.930C>G c.(928-930)ccC>ccG p.P310P SLC5A7_ENST00000540517.1_Silent_p.P205P|SLC5A7_ENST00000409059.1_Silent_p.P310P NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 310 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTCCAGATCCCAAGACTACAG 0.433000 3 20 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167218047 167218047 + Silent SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:167218047C>A ENST00000308378.3 - 14 2174 c.1869G>T c.(1867-1869)ctG>ctT p.L623L WDR49_ENST00000453925.2_Silent_p.L588L|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Silent_p.L448L NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 623 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TCACTTCAGGCAGCTCTTCCA 0.443000 35 102 9.04072e-19 9.81447e-19 1 1 0 RB1CC1 9821 broad.mit.edu 37 8 53574156 53574156 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:53574156T>C ENST00000025008.5 - 9 1820 c.1297A>G c.(1297-1299)Att>Gtt p.I433V RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.I433V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.I433V NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 433 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTCTGCTTAATATCTAACAGT 0.333000 119 29 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147525680 147525680 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:147525680C>T ENST00000367481.3 + 1 120 c.12C>T c.(10-12)ttC>ttT p.F4F STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000321680.6_Silent_p.F4F|STXBP5_ENST00000367480.3_Silent_p.F4F|STXBP5_ENST00000546097.1_Silent_p.F4F NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 4 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TGAGGAAATTCAACATCAGGA 0.711000 5 10 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19334840 19334840 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:19334840C>T ENST00000252575.6 + 4 585 c.486C>T c.(484-486)ttC>ttT p.F162F NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) GTGTTGTGTTCCACTACCGAT 0.582000 21 41 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33704111 33704111 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:33704111G>A ENST00000336934.5 - 5 819 c.703C>T c.(703-705)Ccc>Tcc p.P235S STARD13_ENST00000255486.4_Missense_Mutation_p.P227S|STARD13_ENST00000399365.3_Missense_Mutation_p.P117S NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 235 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCTCTGGGGGGCTGTGGGAGG 0.602000 4 45 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32836608 32836608 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:32836608C>T ENST00000380250.3 + 53 8271 c.7775C>T c.(7774-7776)tCa>tTa p.S2592L NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2592 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TCTGAGGGTTCAAAGGTGAAG 0.383000 24 41 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121107089 121107089 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:121107089G>A ENST00000295228.3 + 2 909 c.863G>A c.(862-864)cGc>cAc p.R288H NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 288 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) AGCAGGCACCGCATTCGCAAG 0.642000 35 13 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93629438 93629438 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:93629438C>G ENST00000375754.4 + 7 1020 c.872C>G c.(871-873)tCa>tGa p.S291* SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Nonsense_Mutation_p.S291* NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 291 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GGAATAATCTCAAGAATCAAA 0.468000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 13 28 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50163448 50163448 + RNA SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:50163448C>G ENST00000376025.2 - 0 954 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TTAATCCATTCTTCCATGTCT 0.358000 8 18 0 0 1 0 0 VPS51 738 broad.mit.edu 37 11 64878921 64878921 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:64878921C>G ENST00000279281.3 + 10 2303 c.2211C>G c.(2209-2211)ctC>ctG p.L737L VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) TTCTGCAGCTCTACCTGTGGC 0.622000 18 13 0 0 1 0 0 WIPF1 7456 broad.mit.edu 37 2 175436967 175436967 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:175436967C>G ENST00000392547.2 - 5 665 c.566G>C c.(565-567)aGt>aCt p.S189T WIPF1_ENST00000392546.2_Missense_Mutation_p.S189T|WIPF1_ENST00000409891.1_Missense_Mutation_p.S189T|AC018890.6_ENST00000412835.1_RNA|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.S189T|WIPF1_ENST00000359761.3_Missense_Mutation_p.S189T|WIPF1_ENST00000272746.5_Missense_Mutation_p.S189T NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 189 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TCTTGGAGTACTAGGTACTGG 0.652000 18 43 0 0 1 0 0 DESI2 51029 broad.mit.edu 37 1 244869017 244869017 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:244869017G>A ENST00000302550.11 + 5 890 c.511G>A c.(511-513)Gag>Aag p.E171K DESI2_ENST00000263831.7_Missense_Mutation_p.E138K NM_016076.3 NP_057160.2 Q9BSY9 PPDE1_HUMAN desumoylating isopeptidase 2 171 GGAGGAAGCAGAGGATGCTGC 0.557000 20 44 0 0 1 0 0 CREM 1390 broad.mit.edu 37 10 35477263 35477263 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:35477263C>G ENST00000333809.8 + 6 746 c.692C>G c.(691-693)tCa>tGa p.S231* CREM_ENST00000374728.3_Intron|CREM_ENST00000354759.3_Intron|CREM_ENST00000439705.1_Intron|CREM_ENST00000337656.4_Nonsense_Mutation_p.S182*|CREM_ENST00000342105.3_Nonsense_Mutation_p.S127*|CREM_ENST00000429130.3_Nonsense_Mutation_p.S215*|CREM_ENST00000484283.1_Intron|CREM_ENST00000395887.3_Nonsense_Mutation_p.S152*|CREM_ENST00000463960.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000479070.1_Nonsense_Mutation_p.S182*|CREM_ENST00000374734.3_Intron|CREM_ENST00000460270.1_Intron|CREM_ENST00000348787.2_Intron|CREM_ENST00000395895.2_Nonsense_Mutation_p.S231*|CREM_ENST00000361599.4_Nonsense_Mutation_p.S152*|CREM_ENST00000345491.3_Nonsense_Mutation_p.S182*|CREM_ENST00000463314.1_Nonsense_Mutation_p.S20*|CREM_ENST00000374721.3_Intron NM_183011.1 NP_898829.1 Q03060 CREM_HUMAN cAMP responsive element modulator 231 cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 GCAGCACAATCAGCTGATGGC 0.428000 25 25 0 0 1 0 0 FAM65B 9750 broad.mit.edu 37 6 24843538 24843538 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:24843538C>T ENST00000259698.4 - 14 1647 c.1472G>A c.(1471-1473)gGa>gAa p.G491E FAM65B_ENST00000510784.2_Missense_Mutation_p.G475E|FAM65B_ENST00000378023.4_Missense_Mutation_p.G441E|FAM65B_ENST00000538035.1_Missense_Mutation_p.G470E|FAM65B_ENST00000540914.1_Missense_Mutation_p.G441E NM_014722.2 NP_055537.2 Q9Y4F9 FA65B_HUMAN family with sequence similarity 65, member B 491 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 25 TTGGCCTTCTCCCAGGGAGTT 0.572000 43 14 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7032165 7032165 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:7032165G>C ENST00000389658.3 - 16 2267 c.2174C>G c.(2173-2175)tCt>tGt p.S725C NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 725 Laminin EGF-like 5; second part. 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 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) GTAATAGCCAGAGAGGCACGA 0.458000 6 9 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62122829 62122829 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:62122829C>G ENST00000433197.3 - 20 2638 c.2543G>C c.(2542-2544)aGa>aCa p.R848T NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CTTTTCTATTCTGTCGCTCAC 0.547000 16 32 0 0 1 0 0 FAM166A 401565 broad.mit.edu 37 9 140139114 140139114 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:140139114C>G ENST00000344774.4 - 5 781 c.727G>C c.(727-729)Gac>Cac p.D243H NM_001001710.1 NP_001001710.1 Q6J272 F166A_HUMAN family with sequence similarity 166, member A 243 kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2) 15 TCGAATTCGTCCATGGCTTGC 0.587000 4 9 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102548071 102548071 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:102548071G>A ENST00000334701.7 - 12 2824 c.2543C>T c.(2542-2544)tCa>tTa p.S848L HSP90AA1_ENST00000216281.8_Missense_Mutation_p.S726L NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 726 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) TTCCATGCGTGATGTGTCGTC 0.408000 27 20 0 0 1 0 0 EVI2A 2123 broad.mit.edu 37 17 29645898 29645898 + Nonsense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:29645898G>C ENST00000247270.3 - 3 539 c.203C>G c.(202-204)tCa>tGa p.S68* NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2A_ENST00000461237.1_Nonsense_Mutation_p.S45*|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Nonsense_Mutation_p.S45* NM_001003927.2 NP_001003927.1 P22794 EVI2A_HUMAN ecotropic viral integration site 2A 45 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTGAATAACTGAATCCCAGGA 0.373000 55 61 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67645940 67645940 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:67645940G>A ENST00000264010.4 + 4 1312 c.868G>A c.(868-870)Gat>Aat p.D290N CTCF_ENST00000401394.1_Intron NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 290 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) AAGCCACACTGATGAGAGACC 0.468000 13 49 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144801110 144801110 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:144801110G>A ENST00000367545.3 + 25 3499 c.3499G>A c.(3499-3501)Gag>Aag p.E1167K NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1167 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGCTGTGGAAGAGATGAAGGT 0.507000 16 28 0 0 1 0 0 PTPN14 5784 broad.mit.edu 37 1 214568275 214568275 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:214568275G>A ENST00000366956.5 - 9 1007 c.813C>T c.(811-813)ctC>ctT p.L271L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 271 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CTTTGTTGATGAGCTCCACTA 0.438000 26 108 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5781384 5781384 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:5781384C>G ENST00000389902.3 - 4 531 c.264G>C c.(262-264)ctG>ctC p.L88L RNF216_ENST00000425013.2_Intron Q9NWF9 RN216_HUMAN ring finger protein 216 56 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CCAACCTTTTCAGATCTTGCC 0.368000 30 56 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105801072 105801072 + Missense_Mutation SNP C C T rs140872949 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:105801072C>T ENST00000353479.5 - 38 2926 c.2636G>A c.(2635-2637)cGa>cAa p.R879Q COL17A1_ENST00000369733.3_Missense_Mutation_p.R879Q NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 879 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TGGTGGGCCTCGGGGTCCTGG 0.652000 9 52 0 0 1 0 0 BPIFB1 92747 broad.mit.edu 37 20 31889210 31889210 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:31889210G>C ENST00000253354.1 + 9 1080 c.919G>C c.(919-921)Gac>Cac p.D307H BPIFB1_ENST00000464032.1_3'UTR NM_033197.2 NP_149974.2 Q8TDL5 LPLC1_HUMAN BPI fold containing family B, member 1 307 extracellular space lipid binding GGTCCTGTTGGACTCTGTGGT 0.547000 8 46 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97839179 97839179 + Nonsense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:97839179C>A ENST00000370192.3 - 16 2096 c.1996G>T c.(1996-1998)Gag>Tag p.E666* NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 666 Uracil binding (Potential). 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity p.E666*(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAATTTAACTCCAGGGCATCT 0.428000 10 24 5.50884e-06 5.66153e-06 1 1 0 WDR45B 56270 broad.mit.edu 37 17 80576938 80576938 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:80576938G>C ENST00000392325.4 - 7 879 c.685C>G c.(685-687)Caa>Gaa p.Q229E WDR45B_ENST00000571835.1_5'UTR NM_019613.3 NP_062559.2 WD repeat domain 45B p.Q229E(1) TTGGCTGCTTGAGATCCTCTT 0.463000 13 21 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31790808 31790808 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:31790808C>T ENST00000543095.2 - 25 4050 c.3866G>A c.(3865-3867)cGt>cAt p.R1289H HEATR5A_ENST00000439348.1_Missense_Mutation_p.R1283H|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R996H|HEATR5A_ENST00000389961.3_Missense_Mutation_p.R1283H NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1283 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GCCAGAAAGACGGAGCTGGTC 0.418000 3 6 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34166271 34166271 + Silent SNP A A C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:34166271A>C ENST00000373381.4 - 23 3755 c.3579T>G c.(3577-3579)gtT>gtG p.V1193V CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Silent_p.V66V NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1153 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCCATCATAAACCTGGACAC 0.517000 11 32 0 0 1 0 0 VSIG4 11326 broad.mit.edu 37 X 65253341 65253341 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:65253341C>G ENST00000455586.2 - 2 513 c.387G>C c.(385-387)aaG>aaC p.K129N VSIG4_ENST00000374737.4_Missense_Mutation_p.K129N|VSIG4_ENST00000412866.2_Missense_Mutation_p.K129N NM_001184830.1 NP_001171759.1 Q9Y279 VSIG4_HUMAN V-set and immunoglobulin domain containing 4 129 Ig-like 1. complement activation, alternative pathway integral to membrane protein binding breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTCAGTAATCTTATCTCTCA 0.473000 71 4 0 0 1 0 0 FAM105A 54491 broad.mit.edu 37 5 14609093 14609093 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:14609093G>C ENST00000274217.3 + 7 984 c.864G>C c.(862-864)ctG>ctC p.L288L NM_019018.2 NP_061891.1 Q9NUU6 F105A_HUMAN family with sequence similarity 105, member A 288 large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 Lung NSC(4;0.00592) TGAATCACCTGAATTCTGTAG 0.433000 60 82 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40113104 40113104 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:40113104G>A ENST00000373233.3 - 15 2322 c.2145C>T c.(2143-2145)ctC>ctT p.L715L CHD6_ENST00000309279.7_Intron NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 715 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) AGTTCTTCTCGAGGATGGCAC 0.473000 63 94 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36207638 36207638 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:36207638C>T ENST00000392197.2 + 7 1766 c.1448C>T c.(1447-1449)tCt>tTt p.S483F ZBTB32_ENST00000262630.3_Missense_Mutation_p.S483F Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 483 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGTTGTCCTTCTTCCTCCACC 0.627000 OREG0025433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 52 0 0 1 0 0 ZNHIT6 54680 broad.mit.edu 37 1 86144454 86144454 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:86144454C>T ENST00000431532.2 - 8 1130 c.982G>A c.(982-984)Gat>Aat p.D328N ZNHIT6_ENST00000370574.3_Missense_Mutation_p.D367N NM_001170670.1|NM_017953.3 NP_001164141.1|NP_060423.3 Q9NWK9 BCD1_HUMAN zinc finger, HIT-type containing 6 367 box C/D snoRNP assembly|ribosome biogenesis pre-snoRNP complex identical protein binding|metal ion binding autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1) 17 ATAGTTTTATCATCTGGTACT 0.259000 19 31 0 0 1 0 0 MOB1B 92597 broad.mit.edu 37 4 71847761 71847761 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:71847761C>G ENST00000309395.2 + 6 839 c.638C>G c.(637-639)tCa>tGa p.S213* MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Nonsense_Mutation_p.S218* NM_001244766.1|NM_173468.3 NP_001231695.1|NP_775739.1 Q7L9L4 MOL1A_HUMAN MOB kinase activator 1B 213 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding AAACTCACCTCAAAAGACAGA 0.353000 6 29 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107323677 107323677 + Missense_Mutation SNP G G C rs138462416 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:107323677G>C ENST00000265715.3 + 7 1020 c.796G>C c.(796-798)Gat>Cat p.D266H NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 266 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 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 AAATATTGGTGATACCAATCT 0.403000 Pendred syndrome 19 42 0 0 1 0 0 H2AFY2 55506 broad.mit.edu 37 10 71835426 71835426 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:71835426G>A ENST00000373255.4 + 2 276 c.12G>A c.(10-12)cgG>cgA p.R4R NM_018649.2 NP_061119.1 Q9P0M6 H2AW_HUMAN H2A histone family, member Y2 4 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1) 15 TGTCGGGCCGGAGTGGGAAGA 0.512000 13 51 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135269722 135269722 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:135269722C>T ENST00000285968.6 + 8 1211 c.1185C>T c.(1183-1185)ctC>ctT p.L395L NUP205_ENST00000440390.2_Silent_p.L189L NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 395 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 TCCATAATCTCATCACAGATT 0.318000 8 12 0 0 1 0 0 PLEK 5341 broad.mit.edu 37 2 68607989 68607989 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:68607989G>T ENST00000234313.7 + 3 512 c.333G>T c.(331-333)agG>agT p.R111S NM_002664.2 NP_002655.2 P08567 PLEK_HUMAN pleckstrin 111 actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 24 Ovarian(717;0.0129) STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419) AATTTGCCAGGAAATCTACCA 0.463000 29 161 2.61193e-14 2.8039e-14 1 1 0 DACT3 147906 broad.mit.edu 37 19 47151949 47151949 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:47151949G>C ENST00000391916.2 - 4 1753 c.1680C>G c.(1678-1680)ttC>ttG p.F560L DACT3_ENST00000300875.4_Missense_Mutation_p.F335L NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 560 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) AGGCAGAGCTGAAGGCAGGCG 0.751000 21 21 0 0 1 0 0 PCED1A 64773 broad.mit.edu 37 20 2819522 2819522 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:2819522C>G ENST00000360652.2 - 4 913 c.411G>C c.(409-411)gtG>gtC p.V137V PCED1A_ENST00000356872.3_Silent_p.V86V NM_022760.4 NP_073597.2 PC-esterase domain containing 1A AGTTGATGATCACCAGGTCCG 0.572000 46 66 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153920691 153920691 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:153920691C>T ENST00000368633.1 - 14 2103 c.1976G>A c.(1975-1977)cGc>cAc p.R659H CRTC2_ENST00000368630.3_Missense_Mutation_p.R339H NM_181715.2 NP_859066.1 Q53ET0 CRTC2_HUMAN CREB regulated transcription coactivator 2 659 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGCTCCATGCGCAGCTCATC 0.602000 22 57 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354037 17354037 + RNA SNP A A G rs7733712 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:17354037A>G ENST00000511821.1 + 0 19 FTH1P10_ENST00000401830.3_RNA ATATTCCGCCAAGCTAGATTC 0.493000 3 37 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67268295 67268295 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:67268295G>A ENST00000355520.5 - 24 3021 c.2380C>T c.(2380-2382)Caa>Taa p.Q794* OPHN1_ENST00000540071.1_Nonsense_Mutation_p.Q686* NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 794 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 AGTCTGCCTTGAGAACTGTGG 0.448000 16 2 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155234103 155234103 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:155234103C>G ENST00000424344.3 + 6 756 c.389C>G c.(388-390)tCt>tGt p.S130C IL9R_ENST00000369423.2_Intron|IL9R_ENST00000540897.1_Intron|IL9R_ENST00000244174.5_Missense_Mutation_p.S151C Q01113 IL9R_HUMAN interleukin 9 receptor 151 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GACCCGCCCTCTGACTTGCAG 0.552000 8 46 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207271509 207271509 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:207271509G>T ENST00000243611.5 + 5 812 c.518G>T c.(517-519)gGc>gTc p.G173V C4BPB_ENST00000367078.3_Missense_Mutation_p.G173V|C4BPB_ENST00000367076.3_Missense_Mutation_p.G172V|C4BPB_ENST00000391923.1_Missense_Mutation_p.G173V|C4BPB_ENST00000470767.1_3'UTR NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 173 Sushi 3. blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 TACTTAGTGGGCGTGCAGGAG 0.463000 45 23 1.19451e-25 1.31152e-25 1 1 0 GOLGA1 2800 broad.mit.edu 37 9 127693679 127693679 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:127693679C>G ENST00000373555.4 - 4 475 c.142G>C c.(142-144)Gat>Cat p.D48H NM_002077.3 NP_002068 Q92805 GOGA1_HUMAN golgin A1 48 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 CTGCTTCCATCGGAAGCCTGT 0.433000 19 40 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88916443 88916443 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:88916443C>G ENST00000277141.6 - 27 4459 c.2035G>C c.(2035-2037)Gag>Cag p.E679Q ZCCHC6_ENST00000375957.1_Missense_Mutation_p.E290Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.E1390Q|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E1352Q|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E1154Q Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 1390 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TCTTTGTCCTCTTTGCTTCTT 0.443000 31 37 0 0 1 0 0 CMTR1 23070 broad.mit.edu 37 6 37414193 37414193 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:37414193G>A ENST00000373451.4 + 4 576 c.412G>A c.(412-414)Gag>Aag p.E138K NM_015050.2 NP_055865.1 cap methyltransferase 1 138 CTTTGACCAGGAGCTGAACGT 0.517000 63 66 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 64022431 64022431 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:64022431C>T ENST00000373789.3 - 2 306 c.210G>A c.(208-210)tcG>tcA p.S70S RTKN2_ENST00000395260.3_Silent_p.S70S|RTKN2_ENST00000395265.1_Silent_p.S70S NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 70 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TCTGTAGCTCCGATGTATAGG 0.358000 15 61 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49725009 49725009 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49725009C>T ENST00000449682.2 - 3 696 c.335G>A c.(334-336)tGt>tAt p.C112Y MST1_ENST00000383728.3_Missense_Mutation_p.C37Y|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000545762.1_Missense_Mutation_p.C98Y NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 98 Kringle 1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GAAGAGGTCACAGCGCCCAGA 0.607000 3 15 0 0 1 0 0 TMEM62 80021 broad.mit.edu 37 15 43476672 43476672 + Missense_Mutation SNP T T G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:43476672T>G ENST00000260403.2 + 14 2099 c.1820T>G c.(1819-1821)tTg>tGg p.L607W RP11-473C18.3_ENST00000565685.1_RNA|EPB42_ENST00000563128.1_Intron NM_024956.3 NP_079232.3 Q0P6H9 TMM62_HUMAN transmembrane protein 62 607 integral to membrane breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) TTCTCCCCTTTGCGGACCTGG 0.453000 54 90 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26705415 26705415 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:26705415C>T ENST00000272371.2 - 14 1564 c.1438G>A c.(1438-1440)Gag>Aag p.E480K OTOF_ENST00000403946.3_Missense_Mutation_p.E480K NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 480 C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACGACCTGCTCATTCCACAGG 0.587000 27 50 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418899 105418899 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:105418899G>T ENST00000333244.5 - 7 3008 c.2889C>A c.(2887-2889)agC>agA p.S963R AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 963 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCACCTCCATGCTGGGCAGAG 0.632000 55 74 1.4374e-25 1.57461e-25 1 1 0 CHD1L 9557 broad.mit.edu 37 1 146758107 146758107 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:146758107C>G ENST00000369258.4 + 18 2171 c.2151C>G c.(2149-2151)ctC>ctG p.L717L CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Silent_p.L436L|CHD1L_ENST00000431239.1_Silent_p.L623L|CHD1L_ENST00000369259.3_Silent_p.L513L NM_001256336.1|NM_004284.4|NM_024568.2 NP_001243265.1|NP_004275.4|NP_078844.2 Q86WJ1 CHD1L_HUMAN chromodomain helicase DNA binding protein 1-like 717 Macro. chromatin remodeling|DNA repair cytoplasm|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(923;0.0487) CTACTTCCCTCAAGTACGTTA 0.577000 27 97 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47254498 47254498 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:47254498C>G ENST00000256996.4 + 4 785 c.590C>G c.(589-591)tCa>tGa p.S197* DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Nonsense_Mutation_p.S197*|DDB2_ENST00000378603.3_Nonsense_Mutation_p.S133* NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 197 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TTTGCCAGCTCAGACACCATC 0.458000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 30 61 0 0 1 0 0 KCNJ14 3770 broad.mit.edu 37 19 48967909 48967909 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:48967909C>G ENST00000391884.1 + 2 1662 c.1186C>G c.(1186-1188)Ctg>Gtg p.L396V KCNJ14_ENST00000342291.2_Missense_Mutation_p.L396V Q9UNX9 IRK14_HUMAN potassium inwardly-rectifying channel, subfamily J, member 14 396 voltage-gated potassium channel complex inward rectifier potassium channel activity p.L396V(1) cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222) TGAACTTGCTCTGAGCTGCTG 0.542000 29 43 0 0 1 0 0 BBS10 79738 broad.mit.edu 37 12 76740826 76740826 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:76740826C>T ENST00000393262.3 - 2 1022 c.939G>A c.(937-939)gtG>gtA p.V313V NM_024685.3 NP_078961.3 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 313 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 CTGGTTGTTTCACACTAGATA 0.348000 Bardet-Biedl syndrome 17 6 0 0 1 0 0 CLPP 8192 broad.mit.edu 37 19 6366307 6366307 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:6366307C>A ENST00000596605.1 + 3 214 c.145C>A c.(145-147)Cat>Aat p.H49N CLPP_ENST00000596149.1_Silent_p.I111I|CLPP_ENST00000245816.4_Silent_p.I198I Q16740 CLPP_HUMAN caseinolytic mitochondrial matrix peptidase proteolytic subunit 0 proteolysis mitochondrial matrix ATP binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(2)|ovary(2) 6 CAGAGGAGATCATGAAGCTCA 0.552000 6 8 2.7689e-08 2.88876e-08 1 1 0 KCNA1 3736 broad.mit.edu 37 12 5021486 5021486 + Silent SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:5021486C>A ENST00000382545.3 + 2 2049 c.942C>A c.(940-942)atC>atA p.I314I KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 314 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCCTCCAGATCCTGGGCCAGA 0.547000 12 38 0.00136819 0.00137964 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574100 18574100 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:18574100C>A ENST00000380548.4 + 4 649 c.310C>A c.(310-312)Cag>Aag p.Q104K ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.Q104K|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.Q104K NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 104 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) GCACCATGGCCAGTTTTATGA 0.473000 25 75 5.35356e-11 5.67124e-11 1 1 0 RELN 5649 broad.mit.edu 37 7 103276721 103276721 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:103276721C>T ENST00000428762.1 - 18 2423 c.2264G>A c.(2263-2265)cGt>cAt p.R755H RELN_ENST00000424685.2_Missense_Mutation_p.R755H|RELN_ENST00000343529.5_Missense_Mutation_p.R755H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 755 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AATTAGCTGACGCCGCCCATC 0.428000 15 20 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219883875 219883875 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:219883875G>C ENST00000341552.5 - 21 3583 c.3500C>G c.(3499-3501)aCc>aGc p.T1167S CCDC108_ENST00000453220.1_Missense_Mutation_p.T1167S|CCDC108_ENST00000441968.1_Missense_Mutation_p.T1167S NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1167 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTTAAAGGGGTGAGGACGGG 0.612000 21 36 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2661671 2661671 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:2661671G>A ENST00000324666.5 + 8 1113 c.762G>A c.(760-762)agG>agA p.R254R FAM193A_ENST00000502458.1_Silent_p.R278R|FAM193A_ENST00000545951.1_Silent_p.R254R|FAM193A_ENST00000382839.3_Silent_p.R254R|FAM193A_ENST00000505311.1_Silent_p.R254R NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 254 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 TTGCTGAGAGGAGCCCGCCCA 0.587000 36 35 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201980326 201980326 + Nonsense_Mutation SNP C C A rs150188692 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:201980326C>A ENST00000359651.3 + 1 3254 c.62C>A c.(61-63)tCg>tAg p.S21* ELF3_ENST00000367284.5_Nonsense_Mutation_p.S21*|ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Nonsense_Mutation_p.S21* P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 21 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 ATGTACAGCTCGGAGGACTCC 0.557000 20 61 1.01871e-10 1.0768e-10 1 1 0 POSTN 10631 broad.mit.edu 37 13 38164584 38164584 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:38164584C>G ENST00000379747.4 - 4 483 c.366G>C c.(364-366)ctG>ctC p.L122L POSTN_ENST00000379749.4_Silent_p.L122L|POSTN_ENST00000379742.4_Silent_p.L122L|POSTN_ENST00000379743.4_Silent_p.L122L|POSTN_ENST00000541179.1_Silent_p.L122L|POSTN_ENST00000541481.1_Silent_p.L122L NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 122 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TCTCCTCCCTCAGTTTTGAGG 0.438000 9 19 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911336 80911336 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:80911336C>T ENST00000377102.1 - 2 1482 c.505G>A c.(505-507)Gaa>Aaa p.E169K SPRY2_ENST00000540649.1_Missense_Mutation_p.E169K|SPRY2_ENST00000377104.3_Missense_Mutation_p.E169K O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 169 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CCCAAATCTTCCTTGCTCAGT 0.552000 17 21 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137814906 137814906 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:137814906G>A ENST00000367734.2 - 1 625 c.402C>T c.(400-402)atC>atT p.I134I NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 134 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) TGAGCATGAGGATGTAGTTTC 0.632000 26 16 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2160559 2160559 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:2160559G>A ENST00000378536.4 + 1 426 c.354G>A c.(352-354)gaG>gaA p.E118E NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 118 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TGGGAGGCGAGAAGCGCCTGT 0.642000 4 7 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21306856 21306856 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:21306856G>A ENST00000602326.1 - 8 900 c.317C>T c.(316-318)cCa>cTa p.P106L EIF4G3_ENST00000400422.1_Missense_Mutation_p.P99L|EIF4G3_ENST00000356916.3_Missense_Mutation_p.P110L|EIF4G3_ENST00000264211.8_Missense_Mutation_p.P99L|EIF4G3_ENST00000374937.3_Missense_Mutation_p.P106L|EIF4G3_ENST00000374935.3_Missense_Mutation_p.P99L|EIF4G3_ENST00000374927.4_Missense_Mutation_p.P99L NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 99 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CCCAGGTCCTGGTCCAGGATA 0.463000 9 9 0 0 1 0 0 BUD13 84811 broad.mit.edu 37 11 116633796 116633796 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:116633796T>C ENST00000260210.4 - 4 532 c.509A>G c.(508-510)cAt>cGt p.H170R BUD13_ENST00000375445.3_Missense_Mutation_p.H170R NM_032725.3 NP_116114.1 Q9BRD0 BUD13_HUMAN BUD13 homolog (S. cerevisiae) 170 Arg-rich. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) GTCTGAGTCATGACGAGCCCC 0.592000 6 99 0 0 1 0 0 TMED3 23423 broad.mit.edu 37 15 79614491 79614491 + Nonsense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:79614491C>T ENST00000299705.5 + 3 777 c.589C>T c.(589-591)Cag>Tag p.Q197* TMED3_ENST00000558562.1_3'UTR|TMED3_ENST00000536821.1_Intron|TMED3_ENST00000424155.2_Intron NM_007364.2 NP_031390.1 Q9Y3Q3 TMED3_HUMAN transmembrane emp24 protein transport domain containing 3 197 protein transport ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane large_intestine(3)|lung(4)|ovary(1)|skin(1) 9 CAGCTTCAGTCAGGTGCTACT 0.587000 20 58 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97596156 97596156 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:97596156G>A ENST00000182096.4 + 1 338 c.274G>A c.(274-276)Gaa>Aaa p.E92K NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TCTGGCATGTGAAAGGTCTGA 0.423000 24 32 0 0 1 0 0 TXNDC15 79770 broad.mit.edu 37 5 134210137 134210137 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:134210137G>A ENST00000358387.4 + 1 645 c.20G>A c.(19-21)cGa>cAa p.R7Q NM_024715.3 NP_078991.3 Q96J42 TXD15_HUMAN thioredoxin domain containing 15 7 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCTGCCGGTCGACGACCGCCC 0.716000 11 16 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49160419 49160419 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49160419C>G ENST00000418109.1 - 28 4455 c.4291G>C c.(4291-4293)Gag>Cag p.E1431Q LAMB2_ENST00000305544.4_Missense_Mutation_p.E1431Q NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1431 Domain alpha. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGCCCATCCTCATCTCGACAG 0.672000 6 8 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1025206 1025206 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:1025206G>C ENST00000421673.2 - 23 3011 c.2961C>G c.(2959-2961)ctC>ctG p.L987L NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 987 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGATCCTGATGAGGATGGTCA 0.667000 18 53 0 0 1 0 0 SLC4A2 6522 broad.mit.edu 37 7 150761666 150761666 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:150761666C>T ENST00000485713.1 + 4 1311 c.271C>T c.(271-273)Ccg>Tcg p.P91S SLC4A2_ENST00000413384.2_Missense_Mutation_p.P91S|SLC4A2_ENST00000461735.1_Missense_Mutation_p.P77S|SLC4A2_ENST00000392826.2_Missense_Mutation_p.P82S|SLC4A2_ENST00000310317.5_Intron NM_001199692.1 NP_001186621.1 P04920 B3A2_HUMAN solute carrier family 4 (anion exchanger), member 2 91 Pro-rich. bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCACCTGCCTCCGGATGCACG 0.687000 17 24 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134893697 134893697 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:134893697G>C ENST00000354475.4 - 3 388 c.357C>G c.(355-357)ctC>ctG p.L119L WDR91_ENST00000423565.1_Silent_p.L84L|WDR91_ENST00000344400.5_Silent_p.L119L NM_014149.3 NP_054868.3 A4D1P6 WDR91_HUMAN WD repeat domain 91 119 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CCTGGTTCTGGAGTTCCGTGG 0.537000 16 47 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12043741 12043741 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:12043741C>A ENST00000356352.2 - 5 2061 c.1588G>T c.(1588-1590)Gac>Tac p.D530Y UPF2_ENST00000397053.2_Missense_Mutation_p.D530Y|UPF2_ENST00000357604.5_Missense_Mutation_p.D530Y Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 530 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TCTAAGGTGTCATCATTAATT 0.338000 7 25 8.12818e-05 8.30039e-05 1 1 0 C5AR1 728 broad.mit.edu 37 19 47823535 47823535 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:47823535G>A ENST00000355085.3 + 2 523 c.501G>A c.(499-501)ctG>ctA p.L167L NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 167 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CCCTGCTGCTGACCATACCCT 0.602000 45 62 0 0 1 0 0 LRRC8A 56262 broad.mit.edu 37 9 131678540 131678540 + Missense_Mutation SNP G G A rs146661687 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:131678540G>A ENST00000259324.5 + 4 2846 c.2323G>A c.(2323-2325)Gag>Aag p.E775K LRRC8A_ENST00000492784.1_3'UTR|LRRC8A_ENST00000372600.4_Missense_Mutation_p.E775K|LRRC8A_ENST00000372599.3_Missense_Mutation_p.E775K NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 775 pre-B cell differentiation integral to membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 GGAGCTGGGCGAGTGCCCACT 0.662000 10 10 0 0 1 0 0 SPDYA 245711 broad.mit.edu 37 2 29063171 29063171 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:29063171C>T ENST00000334056.5 + 7 875 c.686C>T c.(685-687)tCa>tTa p.S229L SPDYA_ENST00000379579.4_Missense_Mutation_p.S229L|SPDYA_ENST00000462832.1_3'UTR NM_182756.3 NP_877433.2 Q5MJ70 SPDYA_HUMAN speedy/RINGO cell cycle regulator family member A 229 G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(172;0.155) GTAGATTGTTCACTCTGTGGT 0.443000 22 36 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152432241 152432241 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:152432241G>C ENST00000427231.2 - 107 17183 c.16981C>G c.(16981-16983)Ctc>Gtc p.L5661V NEB_ENST00000409198.1_Missense_Mutation_p.L3960V|NEB_ENST00000603639.1_Missense_Mutation_p.L5661V|NEB_ENST00000397345.3_Missense_Mutation_p.L5661V|NEB_ENST00000172853.10_Missense_Mutation_p.L3960V|NEB_ENST00000604864.1_Missense_Mutation_p.L5661V NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 5676 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTCTAGCGAGATTAATTTCT 0.368000 38 110 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154801990 154801990 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:154801990G>C ENST00000460393.1 + 2 154 c.34G>C c.(34-36)Gat>Cat p.D12H MME_ENST00000382989.3_Missense_Mutation_p.D12H|MME_ENST00000492661.1_Missense_Mutation_p.D12H|MME_ENST00000493237.1_Missense_Mutation_p.D12H|MME_ENST00000360490.2_Missense_Mutation_p.D12H|MME_ENST00000462745.1_Missense_Mutation_p.D12H NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 12 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GGATATAACTGATATCAACAC 0.383000 21 72 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115481439 115481439 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:115481439G>C ENST00000369321.2 + 5 696 c.376G>C c.(376-378)Gat>Cat p.D126H CASP7_ENST00000369318.3_Missense_Mutation_p.D93H|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.D93H|CASP7_ENST00000369331.4_Missense_Mutation_p.D93H|CASP7_ENST00000345633.4_Missense_Mutation_p.D93H|CASP7_ENST00000452490.2_Missense_Mutation_p.D68H NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 93 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) AACAGACAAAGATGCCGAGGC 0.507000 44 46 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142649642 142649642 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:142649642C>T ENST00000355265.2 - 10 1631 c.1157G>A c.(1156-1158)aGa>aAa p.R386K KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 386 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.R386I(1) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GCTGAGCTTTCTGCGTGCCTC 0.532000 9 26 0 0 1 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 22 42 0 0 1 0 0 MINA 84864 broad.mit.edu 37 3 97686026 97686026 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:97686026G>A ENST00000333396.7 - 2 994 c.412C>T c.(412-414)Cac>Tac p.H138Y MINA_ENST00000330299.2_Missense_Mutation_p.H138Y|MINA_ENST00000394198.2_Missense_Mutation_p.H138Y|MINA_ENST00000360258.4_Missense_Mutation_p.H138Y NM_001042533.2|NM_032778.5 NP_001035998.1|NP_116167.3 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen ribosome biogenesis cytoplasm|nucleolus breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1) 13 TGAGGTTGGTGAAACTGAATC 0.383000 83 112 0 0 1 0 0 PAPOLA 10914 broad.mit.edu 37 14 97009162 97009162 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:97009162G>C ENST00000216277.8 + 14 1441 c.1221G>C c.(1219-1221)aaG>aaC p.K407N PAPOLA_ENST00000392990.2_Missense_Mutation_p.K407N NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 407 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) GCTTGGAGAAGAATGAATTTA 0.378000 27 61 0 0 1 0 0 AASDH 132949 broad.mit.edu 37 4 57217571 57217571 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:57217571C>A ENST00000205214.6 - 10 1809 c.1629G>T c.(1627-1629)ttG>ttT p.L543F AASDH_ENST00000513376.1_Missense_Mutation_p.L443F|AASDH_ENST00000451613.1_Missense_Mutation_p.L543F|AASDH_ENST00000502617.1_Missense_Mutation_p.L543F|AASDH_ENST00000602986.1_Missense_Mutation_p.L390F|AASDH_ENST00000434343.2_Missense_Mutation_p.L58F NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 543 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) TCTCAGACTTCAAGTTTATGT 0.239000 20 25 5.35356e-11 5.67124e-11 1 1 0 NMT1 4836 broad.mit.edu 37 17 43180358 43180358 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:43180358G>C ENST00000592782.1 + 10 1164 c.1033G>C c.(1033-1035)Gac>Cac p.D345H NMT1_ENST00000258960.2_Missense_Mutation_p.D345H P30419 NMT1_HUMAN N-myristoyltransferase 1 345 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GGAAACAAAGGACATTCCAGT 0.542000 24 30 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39917902 39917902 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:39917902G>C ENST00000564288.1 + 86 21270 c.20493G>C c.(20491-20493)gaG>gaC p.E6831D MACF1_ENST00000372915.3_Missense_Mutation_p.E6730D|MACF1_ENST00000361689.2_Missense_Mutation_p.E4772D|MACF1_ENST00000567887.1_Missense_Mutation_p.E6868D|MACF1_ENST00000539005.1_Missense_Mutation_p.E4642D|MACF1_ENST00000317713.7_Missense_Mutation_p.E4772D|MACF1_ENST00000545844.1_Missense_Mutation_p.E4772D|MACF1_ENST00000289893.4_Missense_Mutation_p.E5274D Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 6838 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGCTGATTGAGAATAGTCGAG 0.488000 56 44 0 0 1 0 0 SHB 6461 broad.mit.edu 37 9 37948717 37948717 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:37948717C>T ENST00000377707.3 - 5 1826 c.1261G>A c.(1261-1263)Gag>Aag p.E421K RP11-613M10.9_ENST00000540557.1_3'UTR NM_003028.2 NP_003019.2 Q15464 SHB_HUMAN Src homology 2 domain containing adaptor protein B 421 SH2. angiogenesis|apoptosis|cell differentiation|signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1) 11 all_epithelial(88;0.122) GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658) AGCAGGTTCTCGGCGTCTCCT 0.612000 16 23 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58050023 58050023 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:58050023C>T ENST00000376233.3 + 4 1832 c.1651C>T c.(1651-1653)Cac>Tac p.H551Y ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H538Y|ZNF550_ENST00000601415.1_Intron NM_001199295.1 NP_001186224 Q6P9A3 ZN549_HUMAN zinc finger protein 549 551 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCAGAAAGTTCACACTGGCGA 0.463000 28 41 0 0 1 0 0 ZNF860 344787 broad.mit.edu 37 3 32031024 32031024 + Silent SNP C C T rs4449357 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:32031024C>T ENST00000360311.4 + 2 1002 c.453C>T c.(451-453)atC>atT p.I151I NM_001137674.2 NP_001131146.2 A6NHJ4 ZN860_HUMAN zinc finger protein 860 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(1) 8 ACAAGCCTATCAAAGATCAGC 0.398000 4 79 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106461677 106461677 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:106461677T>C ENST00000261402.2 - 7 2268 c.889A>G c.(889-891)Att>Gtt p.I297V NM_014840.2 NP_055655.1 O60285 NUAK1_HUMAN NUAK family, SNF1-like kinase, 1 297 Protein kinase. ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 ATGTCCTCAATAGTGGCCCGG 0.557000 12 31 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753620 13753620 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:13753620C>T ENST00000265104.4 - 63 10698 c.10594G>A c.(10594-10596)Ggt>Agt p.G3532S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3532 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTAAATGGACCAGAATAAGAT 0.378000 Kartagener syndrome 42 46 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42819163 42819163 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:42819163G>C ENST00000598766.1 + 6 511 c.511G>C c.(511-513)Gag>Cag p.E171Q TMEM145_ENST00000301204.3_Missense_Mutation_p.E147Q Q8NBT3 TM145_HUMAN transmembrane protein 145 147 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) ATTGCAGCTGGAGTATGAGAT 0.587000 9 24 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133812133 133812133 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:133812133G>C ENST00000285928.2 + 1 82 c.13G>C c.(13-15)Gag>Cag p.E5Q LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 5 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 GGCGACCTCCGAGAGGGCTCT 0.612000 23 61 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156801 33156801 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:33156801G>A ENST00000341947.2 - 3 624 c.397C>T c.(397-399)Cct>Tct p.P133S COL11A2_ENST00000395197.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P133S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P133S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P133S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P133S|COL11A2_ENST00000361917.1_Missense_Mutation_p.P133S NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 133 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TGAGAGGGAGGTTGAGGCCGC 0.607000 56 31 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371385 48371385 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:48371385C>T ENST00000395702.2 + 2 1080 c.853C>T c.(853-855)Cgc>Tgc p.R285C ZNF488_ENST00000586537.1_Missense_Mutation_p.R178C|ZNF488_ENST00000494156.1_3'UTR Q96MN9 ZN488_HUMAN zinc finger protein 488 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCTGTCCTTTCGCCTAACGTC 0.592000 14 49 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140301254 140301254 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:140301254G>A ENST00000275884.6 - 2 1361 c.944C>T c.(943-945)tCt>tTt p.S315F DENND2A_ENST00000537639.1_Missense_Mutation_p.S315F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S315F|DENND2A_ENST00000492720.1_Missense_Mutation_p.S315F Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 315 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TCTGTTCACagaggaaggtgg 0.592000 25 10 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130021505 130021505 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:130021505C>T ENST00000011292.3 + 3 332 c.182C>T c.(181-183)tCc>tTc p.S61F CPA1_ENST00000484324.1_5'UTR NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 61 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.S61F(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CACCCTGGCTCCCCCATCGAC 0.667000 8 25 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442528 25442528 + RNA SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:25442528G>C ENST00000424208.1 + 0 1504 SNHG14_ENST00000456576.1_RNA NR_003305.1 CACCCCTCCAGATGCTGACCC 0.602000 6 8 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174228564 174228564 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:174228564G>C ENST00000306721.3 + 5 743 c.640G>C c.(640-642)Gaa>Caa p.E214Q CDCA7_ENST00000410019.3_Missense_Mutation_p.E93Q|CDCA7_ENST00000347703.3_Missense_Mutation_p.E135Q|CDCA7_ENST00000392567.2_Missense_Mutation_p.E135Q|CDCA7_ENST00000410101.3_Missense_Mutation_p.E170Q NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 135 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) ACTCATGTCTGAATTAGAAAG 0.413000 67 49 0 0 1 0 0 AAGAB 79719 broad.mit.edu 37 15 67546914 67546914 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:67546914C>T ENST00000261880.5 - 1 160 c.56G>A c.(55-57)gGa>gAa p.G19E AAGAB_ENST00000542650.1_Intron|AAGAB_ENST00000561452.1_5'UTR NM_001271885.1|NM_001271886.1|NM_024666.3 NP_001258814.1|NP_001258815.1|NP_078942.3 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin binding protein 19 protein transport cytoplasm breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 CAGCTGGTCTCCTGAGAAGAC 0.672000 3 5 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106959853 106959853 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:106959853G>T ENST00000369701.3 + 15 2333 c.2106G>T c.(2104-2106)caG>caT p.Q702H SORCS3_ENST00000369699.4_5'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 702 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AGGACTATCAGACCTGGCACC 0.527000 39 50 7.04047e-22 7.67762e-22 1 1 0 DENND5B 160518 broad.mit.edu 37 12 31600583 31600583 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:31600583G>A ENST00000389082.5 - 6 2014 c.1750C>T c.(1750-1752)Cct>Tct p.P584S DENND5B_ENST00000306833.6_Missense_Mutation_p.P619S|DENND5B_ENST00000354285.4_Missense_Mutation_p.P606S|DENND5B_ENST00000536562.1_Missense_Mutation_p.P619S NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 584 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CGAAGCAAAGGATCTTTCTCT 0.413000 5 12 0 0 1 0 0 C16orf78 123970 broad.mit.edu 37 16 49430419 49430419 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:49430419G>A ENST00000299191.3 + 4 597 c.480G>A c.(478-480)atG>atA p.M160I NM_144602.2 NP_653203.1 Q8WTQ4 CP078_HUMAN chromosome 16 open reading frame 78 160 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 TAGATCCCATGTTACAGGAGG 0.493000 36 16 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10295270 10295270 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:10295270G>A ENST00000403437.2 - 39 5687 c.5593C>T c.(5593-5595)Ctc>Ttc p.L1865F CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1865 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TGCAGCCTGAGAACATTCTTG 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 40 44 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47256451 47256451 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:47256451C>T ENST00000256996.4 + 6 1041 c.846C>T c.(844-846)ctC>ctT p.L282L DDB2_ENST00000378600.3_Intron|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Silent_p.L218L NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 282 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 CCAGCTTCCTCTACTCGCTGC 0.567000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 5 16 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21658811 21658811 + Nonsense_Mutation SNP A A T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:21658811A>T ENST00000328843.6 + 24 4394 c.4363A>T c.(4363-4365)Aag>Tag p.K1455* DNAH11_ENST00000465593.1_3'UTR|DNAH11_ENST00000409508.3_Nonsense_Mutation_p.K1450* Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1455 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATTGTGGACAAGGCGGTGAA 0.448000 Kartagener syndrome 4 10 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188247951 188247951 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:188247951G>C ENST00000409998.1 - 6 914 c.133C>G c.(133-135)Caa>Gaa p.Q45E CALCRL_ENST00000410068.1_Missense_Mutation_p.Q45E|CALCRL_ENST00000392370.3_Missense_Mutation_p.Q45E|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 45 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CATTCATATTGAGCTGTCATG 0.338000 38 20 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51515938 51515938 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:51515938C>G ENST00000328188.1 + 1 657 c.657C>G c.(655-657)atC>atG p.I219M NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGTGGTCATCTTGTGCTCCC 0.507000 16 42 0 0 1 0 0 TFF3 7033 broad.mit.edu 37 21 43735421 43735421 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr21:43735421C>T ENST00000518498.1 - 1 340 c.106G>A c.(106-108)Gag>Aag p.E36K TFF3_ENST00000291525.10_Missense_Mutation_p.E72K Q07654 TFF3_HUMAN trefoil factor 3 (intestinal) 22 P-type. defense response|digestion apical lamina of hyaline layer cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 ACGTACTCCTCAGCAGAGCTG 0.642000 5 12 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20582440 20582440 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:20582440G>A ENST00000202677.7 - 16 2096 c.2089C>T c.(2089-2091)Ctc>Ttc p.L697F RALGAPA2_ENST00000495793.1_5'UTR NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 CGCCAGCTGAGAGAAAAGGAC 0.473000 20 16 0 0 1 0 0 WAPAL 23063 broad.mit.edu 37 10 88260490 88260490 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:88260490C>A ENST00000298767.5 - 3 982 c.510G>T c.(508-510)gaG>gaT p.E170D NM_015045.2 NP_055860.1 Q7Z5K2 WAPL_HUMAN wings apart-like homolog (Drosophila) 170 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1) 31 CATGAAAATTCTCCACTTTAT 0.294000 12 31 1.08611e-07 1.12824e-07 1 1 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 34 3 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78326677 78326677 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:78326677G>C ENST00000255189.3 - 10 1690 c.1662C>G c.(1660-1662)ctC>ctG p.L554L DMGDH_ENST00000380311.4_Silent_p.L353L|DMGDH_ENST00000540686.1_Silent_p.L174L NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 554 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity p.L554L(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CATTTGCAAAGAGATGGTCCA 0.383000 18 29 0 0 1 0 0 MON1A 84315 broad.mit.edu 37 3 49949136 49949136 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49949136C>T ENST00000417270.1 - 4 1153 c.460G>A c.(460-462)Gat>Aat p.D154N MON1A_ENST00000483022.1_5'UTR|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.D243N|MON1A_ENST00000455683.2_Intron Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 146 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCCGTGGCATCCTCCTCATCC 0.637000 21 5 0 0 1 0 0 SLAIN2 57606 broad.mit.edu 37 4 48384768 48384768 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:48384768C>T ENST00000264313.6 + 5 1464 c.1046C>T c.(1045-1047)tCa>tTa p.S349L SLAIN2_ENST00000512093.1_Missense_Mutation_p.S156L NM_020846.1 NP_065897.1 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 349 centrosome breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1) 13 CCACGCAATTCACCTCGACCG 0.453000 34 33 0 0 1 0 0 CHRNE 1145 broad.mit.edu 37 17 4802367 4802367 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:4802367C>T ENST00000293780.4 - 11 1265 c.1255G>A c.(1255-1257)Gag>Aag p.E419K NM_000080.3 NP_000071.1 Q04844 ACHE_HUMAN cholinergic receptor, nicotinic, epsilon (muscle) 419 muscle contraction|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1) 12 CAGCGGACCTCGGGGGCGGCG 0.726000 3 2 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47600884 47600884 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:47600884G>A ENST00000534716.2 + 2 149 c.131G>A c.(130-132)cGc>cAc p.R44H NDUFS3_ENST00000263774.4_Missense_Mutation_p.R44H|NDUFS3_ENST00000534208.1_Missense_Mutation_p.R44H|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000528192.1_Missense_Mutation_p.R44H|NDUFS3_ENST00000529276.1_Missense_Mutation_p.R44H O75489 NDUS3_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) 44 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) GCCGACACGCGCCGTGAGTAT 0.657000 10 38 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220318850 220318850 + Splice_Site SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:220318850G>C ENST00000366922.1 + 22 2866 c.e22-1 IARS2_ENST00000302637.5_Splice_Site Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CTTCCTTCCAGATGCTGCAGT 0.393000 9 23 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51829744 51829744 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:51829744G>C ENST00000251076.5 - 11 1845 c.1558C>G c.(1558-1560)Cta>Gta p.L520V DMXL2_ENST00000449909.3_Missense_Mutation_p.L520V|DMXL2_ENST00000543779.2_Missense_Mutation_p.L520V NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 520 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TGCCACACTAGAAAGGTACCA 0.338000 12 34 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229562 37229562 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:37229562G>A ENST00000233099.5 - 32 5299 c.5204C>T c.(5203-5205)tCa>tTa p.S1735L HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1735 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) TGGAGAGTCTGACACCTTGGT 0.453000 50 110 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110889272 110889272 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:110889272C>G ENST00000316534.4 - 17 1867 c.1794G>C c.(1792-1794)atG>atC p.M598I NPHP1_ENST00000355301.4_Missense_Mutation_p.M479I|NPHP1_ENST00000393272.3_Missense_Mutation_p.M597I|NPHP1_ENST00000417665.1_Missense_Mutation_p.M541I|NPHP1_ENST00000445609.2_Missense_Mutation_p.M542I O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 597 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TTTGCAAGCTCATCCTGTCTT 0.378000 7 14 0 0 1 0 0 PLA2G4B 100137049 broad.mit.edu 37 15 42133274 42133274 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:42133274G>C ENST00000542534.2 + 10 1106 c.1066G>C c.(1066-1068)Gaa>Caa p.E356Q PLA2G4B_ENST00000452633.1_Missense_Mutation_p.E125Q|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E125Q|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E356Q|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E356Q NM_005090.3 NP_005081.1 phospholipase A2, group IVB (cytosolic) all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371) CCTGGAAGTTGAATTTCGCCT 0.562000 13 42 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133812126 133812126 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:133812126G>A ENST00000285928.2 + 1 75 c.6G>A c.(4-6)gcG>gcA p.A2A LRGUK_ENST00000473068.1_3'UTR NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 2 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 ACAAGATGGCGACCTCCGAGA 0.617000 22 57 0 0 1 0 0 RIN3 79890 broad.mit.edu 37 14 93117999 93117999 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:93117999C>T ENST00000216487.7 + 6 764 c.605C>T c.(604-606)cCc>cTc p.P202L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 202 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) GACCGGGCCCCCGGATTCCCC 0.602000 35 18 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111748050 111748050 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:111748050G>A ENST00000261726.6 + 15 1618 c.1464G>A c.(1462-1464)gaG>gaA p.E488E NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 488 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CATCAGGGGAGAGACTGATGA 0.701000 2 1 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 47958328 47958328 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:47958328G>A ENST00000426837.2 - 8 1127 c.1040C>T c.(1039-1041)tCa>tTa p.S347L MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.S330L|MAP4_ENST00000360240.6_Missense_Mutation_p.S330L P27816 MAP4_HUMAN microtubule-associated protein 4 330 17 X 14 AA tandem repeats. negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) ATTCTTGGCTGAAGATACATC 0.473000 83 128 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17156369 17156369 + Nonsense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:17156369G>C ENST00000265970.7 - 10 2104 c.2105C>G c.(2104-2106)tCa>tGa p.S702* PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.S322*|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 702 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TACTTACTTTGATACCCAATT 0.468000 10 33 0 0 1 0 0 C10orf11 83938 broad.mit.edu 37 10 78084163 78084163 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:78084163C>T ENST00000496424.2 + 2 884 c.8C>T c.(7-9)tCt>tTt p.S3F C10orf11_ENST00000372499.1_Missense_Mutation_p.S146F|C10orf11_ENST00000593699.1_3'UTR Q9H2I8 CJ011_HUMAN chromosome 10 open reading frame 11 146 endometrium(1)|large_intestine(4)|lung(4)|stomach(1) 10 Prostate(51;0.0095)|all_epithelial(25;0.0221) ACACAGGCTTCTAGTGAGGAC 0.502000 36 51 0 0 1 0 0 RABGAP1 23637 broad.mit.edu 37 9 125748549 125748549 + Silent SNP C C T rs139179091 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:125748549C>T ENST00000373647.4 + 4 575 c.441C>T c.(439-441)ttC>ttT p.F147F NM_012197.3 NP_036329.3 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 147 PID. cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1) 41 GCGTAGTTTTCAGTAAACTGA 0.423000 49 25 0 0 1 0 0 GMPR 2766 broad.mit.edu 37 6 16290712 16290712 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:16290712C>G ENST00000259727.4 + 8 831 c.717C>G c.(715-717)gtC>gtG p.V239V GMPR_ENST00000544145.1_3'UTR NM_006877.3 NP_006868.3 P36959 GMPR1_HUMAN guanosine monophosphate reductase 239 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 20 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) CAGATTTTGTCATGCTGGGAG 0.502000 43 282 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44050239 44050239 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:44050239C>T ENST00000262887.5 - 13 1993 c.1446G>A c.(1444-1446)gcG>gcA p.A482A XRCC1_ENST00000543982.1_Silent_p.A451A P18887 XRCC1_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 1 482 base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) CAGAATCTTCCGCCCCATTGT 0.602000 Other BER factors 3 41 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48387932 48387932 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:48387932G>A ENST00000224600.4 - 1 3059 c.2946C>T c.(2944-2946)gcC>gcT p.A982A NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 982 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCAGGATCTCGGCTAGGGCCA 0.602000 4 82 0 0 1 0 0 RAB25 57111 broad.mit.edu 37 1 156035720 156035720 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:156035720C>T ENST00000361084.5 + 2 303 c.62C>T c.(61-63)tCa>tTa p.S21L RAB25_ENST00000487325.1_Intron NM_020387.2 NP_065120.2 P57735 RAB25_HUMAN RAB25, member RAS oncogene family 21 positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle|pseudopodium membrane GTP binding|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 Hepatocellular(266;0.158)|all_neural(408;0.195) ATCGGCGAATCAGGTGTGGGG 0.592000 11 23 0 0 1 0 0 ARHGAP27 201176 broad.mit.edu 37 17 43474306 43474306 + Missense_Mutation SNP C C G rs148897544 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:43474306C>G ENST00000532038.1 - 10 1396 c.1261G>C c.(1261-1263)Gag>Cag p.E421Q ARHGAP27_ENST00000528384.1_Missense_Mutation_p.E275Q|CTB-39G8.3_ENST00000592389.1_RNA|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.E616Q|ARHGAP27_ENST00000376922.2_Missense_Mutation_p.E302Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.E302Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.E621Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.E643Q Q6ZUM4 RHG27_HUMAN Rho GTPase activating protein 27 643 WW 3. positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction cytoplasm|membrane Rac GTPase activator activity|SH3 domain binding endometrium(4)|large_intestine(9)|lung(3)|skin(1) 17 Renal(3;0.0405) GCGTCCTCCTCTTTCTCCTGC 0.667000 14 25 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10131998 10131998 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:10131998C>T ENST00000287647.3 + 37 3799 c.3706C>T c.(3706-3708)Cgt>Tgt p.R1236C FANCD2_ENST00000383807.1_Missense_Mutation_p.R1236C|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.R1236C|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1236 R -> H (in FANCD2; no effect on ubiquitination). DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGTTTTCTTCCGTGTGATGAT 0.463000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 6 14 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75280084 75280084 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:75280084C>T ENST00000524558.1 + 4 2257 c.822C>T c.(820-822)caC>caT p.H274H SERPINH1_ENST00000358171.3_Silent_p.H274H|SERPINH1_ENST00000525876.1_Silent_p.H57H|SERPINH1_ENST00000530284.1_Silent_p.H274H|SERPINH1_ENST00000533603.1_Silent_p.H274H P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 274 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity p.H274H(1) endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) TGCCCCATCACGTGGAGCCTC 0.547000 22 20 0 0 1 0 0 FBXW9 84261 broad.mit.edu 37 19 12800192 12800192 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:12800192G>A ENST00000380339.3 - 9 1422 c.1386C>T c.(1384-1386)ctC>ctT p.L462L FBXW9_ENST00000587955.1_Silent_p.L452L|FBXW9_ENST00000393261.3_Silent_p.L432L|FBXW9_ENST00000544494.1_Silent_p.L170L Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 462 protein binding p.L432L(1)|p.S117*(1) cervix(1)|lung(4)|ovary(1)|prostate(1) 7 TTACCCTATTGAGCCCATTGT 0.622000 7 17 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21049249 21049249 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:21049249G>C ENST00000261383.3 - 34 4783 c.4784C>G c.(4783-4785)tCt>tGt p.S1595C DNAH3_ENST00000415178.1_Missense_Mutation_p.S1595C NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1595 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTGATGCTGAGAGGACAGTTG 0.532000 5 33 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49365238 49365238 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49365238G>A ENST00000351842.4 - 3 249 c.241C>T c.(241-243)Cag>Tag p.Q81* USP4_ENST00000416417.1_Nonsense_Mutation_p.Q81*|USP4_ENST00000415188.1_Nonsense_Mutation_p.Q81*|USP4_ENST00000265560.4_Nonsense_Mutation_p.Q81* NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 81 DUSP. negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TTCAAGGTCTGACTCTCAGGA 0.393000 24 2 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142479940 142479940 + RNA SNP C C T rs58649169 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:142479940C>T ENST00000603901.1 + 0 72 NR_001296.3 ATGACAAGATCGTTGGGGGCT 0.557000 5 28 0 0 1 0 0 HMCES 56941 broad.mit.edu 37 3 128998681 128998681 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:128998681G>C ENST00000383463.4 + 2 195 c.106G>C c.(106-108)Gat>Cat p.D36H HMCES_ENST00000417226.2_Missense_Mutation_p.D36H|HMCES_ENST00000502878.2_Missense_Mutation_p.D36H|HMCES_ENST00000389735.3_Missense_Mutation_p.D36H NM_020187.2 NP_064572.2 5-hydroxymethylcytosine (hmC) binding, ES cell-specific 36 GAGGGACCCTGATAAGTACTG 0.552000 21 25 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46095010 46095010 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:46095010G>C ENST00000323040.4 - 2 1059 c.115C>G c.(115-117)Ctg>Gtg p.L39V OPA3_ENST00000544371.1_Intron NM_005282.2 NP_005273.1 P46093 GPR4_HUMAN G protein-coupled receptor 4 39 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) GCCGCCCACAGAGCCAGGCAG 0.647000 27 29 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77906498 77906498 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:77906498C>T ENST00000355300.6 - 2 1925 c.1751G>A c.(1750-1752)cGg>cAg p.R584Q LINGO1_ENST00000561030.1_Missense_Mutation_p.R578Q NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 584 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GCCCTTGCCCCGGCTCCAGAG 0.592000 20 16 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087699 47087699 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:47087699G>C ENST00000374312.1 + 3 1335 c.916G>C c.(916-918)Gtg>Ctg p.V306L NPY4R_ENST00000395716.1_Missense_Mutation_p.V306L NM_005972.4 NP_005963.4 neuropeptide Y receptor Y4 CATCTTCTTAGTGTGCCACTT 0.552000 7 45 0 0 1 0 0 EFCAB3 146779 broad.mit.edu 37 17 60493445 60493445 + Nonsense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:60493445C>T ENST00000450662.2 + 12 1299 c.1228C>T c.(1228-1230)Cga>Tga p.R410* EFCAB3_ENST00000305286.3_Nonsense_Mutation_p.R358* NM_001144933.1 NP_001138405.1 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 358 calcium ion binding cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) GCAGAAGATCCGAGGGGATTT 0.423000 9 87 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40819591 40819591 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:40819591G>A ENST00000396617.3 - 9 1166 c.576C>T c.(574-576)ctC>ctT p.L192L MKL1_ENST00000407029.1_Silent_p.L192L|MKL1_ENST00000402042.1_Intron|MKL1_ENST00000355630.3_Silent_p.L192L NM_001282662.1 NP_001269591.1 Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 192 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 TTCCATTGGTGAGGCTGGGAG 0.567000 T RBM15 acute megakaryocytic leukemia 10 18 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56789068 56789068 + Nonsense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:56789068C>A ENST00000413728.2 - 3 877 c.334G>T c.(334-336)Gag>Tag p.E112* ARHGEF3_ENST00000495373.1_Nonsense_Mutation_p.E106*|ARHGEF3_ENST00000497267.1_Nonsense_Mutation_p.E77*|ARHGEF3_ENST00000338458.4_Nonsense_Mutation_p.E138*|ARHGEF3_ENST00000496106.1_Nonsense_Mutation_p.E112*|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000296315.3_Nonsense_Mutation_p.E106* NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 106 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) TCGAAGGTCTCACTCCACAGC 0.587000 55 59 2.43277e-16 2.63505e-16 1 1 0 PLSCR5 389158 broad.mit.edu 37 3 146311797 146311797 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:146311797C>G ENST00000443512.1 - 4 1366 c.363G>C c.(361-363)ctG>ctC p.L121L PLSCR5_ENST00000492200.1_Silent_p.L121L|PLSCR5_ENST00000482567.1_Silent_p.L109L NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 121 p.L121L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 CTGTGATCCTCAGGGTGCAAG 0.453000 49 48 0 0 1 0 0 ZNF93 81931 broad.mit.edu 37 19 20045450 20045450 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:20045450G>C ENST00000343769.5 + 4 1714 c.1686G>C c.(1684-1686)gaG>gaC p.E562D AC007204.2_ENST00000592245.1_lincRNA NM_031218.3 NP_112495.2 P35789 ZNF93_HUMAN zinc finger protein 93 562 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 24 ATACTGGAGAGAAACCTTATA 0.378000 9 38 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159039 152159039 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:152159039G>A ENST00000439251.1 - 2 1542 c.1104C>T c.(1102-1104)acC>acT p.T368T PNMA5_ENST00000452693.1_Silent_p.T368T|PNMA5_ENST00000361887.5_Silent_p.T368T|PNMA5_ENST00000535214.1_Silent_p.T368T NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 368 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) TTGCCTGCACGGTGGCCTGAG 0.582000 3 37 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24653038 24653038 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:24653038C>T ENST00000354464.6 - 19 2112 c.1936G>A c.(1936-1938)Gag>Aag p.E646K RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 646 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) TCCATGAGCTCCTCCTCTTCT 0.532000 32 22 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44777862 44777862 + Missense_Mutation SNP G G A rs116197330 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:44777862G>A ENST00000391958.2 + 5 1176 c.1049G>A c.(1048-1050)aGc>aAc p.S350N ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.S332N NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 350 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TATGCCCGGAGCTCCAACCAG 0.527000 3 26 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57744876 57744876 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:57744876G>C ENST00000302804.7 + 5 670 c.484G>C c.(484-486)Gtg>Ctg p.V162L AURKC_ENST00000599062.1_Missense_Mutation_p.V159L|AURKC_ENST00000598785.1_Missense_Mutation_p.V128L|AURKC_ENST00000415300.2_Missense_Mutation_p.V143L|AURKC_ENST00000448930.1_Missense_Mutation_p.V128L NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 162 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGACAAGAAAGTGATTCACAG 0.512000 26 29 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762669 53762669 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:53762669G>T ENST00000341702.3 + 1 1125 c.1041G>T c.(1039-1041)tgG>tgT p.W347C VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 347 response to pheromone integral to membrane|plasma membrane pheromone receptor activity 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) CCAGTTGGTGGCTAGTGAACA 0.458000 38 108 3.09479e-21 3.36724e-21 1 1 0 DLC1 10395 broad.mit.edu 37 8 13356815 13356815 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:13356815C>T ENST00000276297.4 - 2 1175 c.766G>A c.(766-768)Gag>Aag p.E256K DLC1_ENST00000511869.1_Missense_Mutation_p.E256K|DLC1_ENST00000316609.5_Missense_Mutation_p.E256K NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 256 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 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 TCCAAGAACTCATTTTGTACT 0.433000 39 129 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152275721 152275721 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:152275721C>G ENST00000368799.1 - 3 11676 c.11641G>C c.(11641-11643)Gag>Cag p.E3881Q FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3881 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAAGCAGACTCAGATCGCCTC 0.572000 Ichthyosis 24 97 0 0 1 0 0 FBXO42 54455 broad.mit.edu 37 1 16583177 16583177 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:16583177G>A ENST00000375592.3 - 5 796 c.580C>T c.(580-582)Cgg>Tgg p.R194W NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 194 autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) GGGCTTGGCCGCGTCCAGCCA 0.473000 11 30 0 0 1 0 0 P2RX7 5027 broad.mit.edu 37 12 121600261 121600261 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:121600261G>A ENST00000546057.1 + 5 614 c.471G>A c.(469-471)ggG>ggA p.G157G P2RX7_ENST00000541446.1_5'UTR|P2RX7_ENST00000328963.5_Intron|P2RX7_ENST00000535250.1_Silent_p.G67G|P2RX7_ENST00000377162.2_Silent_p.G157G|P2RX7_ENST00000443520.3_3'UTR NM_002562.5 NP_002553 A8K2Z0 A8K2Z0_HUMAN purinergic receptor P2X, ligand-gated ion channel, 7 157 integral to membrane ATP binding|ion channel activity|receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1) 19 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGTATGAAGGGAACCAGAAGA 0.562000 13 6 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47646764 47646764 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:47646764C>T ENST00000413379.3 + 2 214 c.112C>T c.(112-114)Cgg>Tgg p.R38W SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Missense_Mutation_p.R38W|SAE1_ENST00000392776.3_Missense_Mutation_p.R38W|SAE1_ENST00000270225.7_Missense_Mutation_p.R38W NM_001145713.1 NP_001139185.1 Q9UBE0 SAE1_HUMAN SUMO1 activating enzyme subunit 1 38 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) GCGGGCCTCTCGGGTGCTTCT 0.458000 24 26 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399686 179399686 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:179399686C>G ENST00000589042.1 - 358 101880 c.101656G>C c.(101656-101658)Gaa>Caa p.E33886Q TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E24821Q|TTN_ENST00000591111.1_Missense_Mutation_p.E32245Q|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31318Q|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E24946Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25013Q|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32245 E -> V. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTAATTCTTCCATGCTTTCA 0.333000 27 11 0 0 1 0 0 GATM 2628 broad.mit.edu 37 15 45658387 45658387 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:45658387C>T ENST00000396659.3 - 6 1174 c.835G>A c.(835-837)Gaa>Aaa p.E279K GATM_ENST00000558336.1_Missense_Mutation_p.E279K NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 279 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) CGCATCCATTCAATGCCTAGG 0.363000 11 37 0 0 1 0 0 PICALM 8301 broad.mit.edu 37 11 85692951 85692951 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:85692951C>T ENST00000526033.1 - 15 1907 c.1591G>A c.(1591-1593)Gat>Aat p.D531N PICALM_ENST00000356360.5_Missense_Mutation_p.D538N|PICALM_ENST00000528398.1_Missense_Mutation_p.D437N|PICALM_ENST00000532317.1_Missense_Mutation_p.D488N|PICALM_ENST00000393346.3_Missense_Mutation_p.D538N NM_001206946.1|NM_007166.3 NP_001193875.1|NP_009097.2 Q13492 PICAL_HUMAN phosphatidylinositol binding clathrin assembly protein 538 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) TCCAAGTCATCAGATACTAAC 0.413000 T """MLLT10, MLL""" """TALL, AML, """ 15 41 0 0 1 0 0 C10orf137 26098 broad.mit.edu 37 10 127434365 127434365 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:127434365G>C ENST00000337623.3 + 18 2683 c.2578G>C c.(2578-2580)Gag>Cag p.E860Q RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.E894Q|RP11-383C5.7_ENST00000594025.1_RNA NM_015608.2 NP_056423.2 Q3B7T1 EDRF1_HUMAN chromosome 10 open reading frame 137 894 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TGAATCAATTGAGGATGCCAC 0.458000 19 79 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49159609 49159609 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49159609C>T ENST00000418109.1 - 29 4932 c.4768G>A c.(4768-4770)Gca>Aca p.A1590T LAMB2_ENST00000305544.4_Missense_Mutation_p.A1590T NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1590 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCCCGCCGTGCATCCTGCAGT 0.617000 18 21 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183884242 183884242 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:183884242G>T ENST00000313143.3 + 9 1160 c.912G>T c.(910-912)gaG>gaT p.E304D DVL3_ENST00000431765.1_Missense_Mutation_p.E304D|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 304 PDZ. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) AGGTAAACGAGATCAACTTTG 0.537000 20 80 5.35356e-11 5.67124e-11 1 1 0 CTNNA2 1496 broad.mit.edu 37 2 80801301 80801301 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:80801301C>T ENST00000466387.1 + 17 2479 c.1755C>T c.(1753-1755)ttC>ttT p.F585F CTNNA2_ENST00000402739.4_Silent_p.F585F|CTNNA2_ENST00000541047.1_Silent_p.F585F|CTNNA2_ENST00000361291.4_Silent_p.F619F|CTNNA2_ENST00000343114.3_Silent_p.F264F|CTNNA2_ENST00000540488.1_Silent_p.F585F|CTNNA2_ENST00000496558.1_Silent_p.F585F P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 585 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGCCACGCTTCGCTGAACAAG 0.493000 27 95 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227111 43227111 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:43227111G>A ENST00000332499.2 + 1 2428 c.554G>A c.(553-555)cGa>cAa p.R185Q NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 185 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CAGAGCCTTCGAGCTTCAAGG 0.552000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 52 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67801675 67801675 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:67801675T>C ENST00000544246.1 - 2 1589 c.898A>G c.(898-900)Aaa>Gaa p.K300E PCDH9_ENST00000328454.5_Missense_Mutation_p.K300E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K300E|PCDH9_ENST00000377861.3_Missense_Mutation_p.K300E|PCDH9_ENST00000377865.2_Missense_Mutation_p.K300E NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 300 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAGAGTCTTTTGGTTGCAGGG 0.463000 54 45 0 0 1 0 0 CCHCR1 54535 broad.mit.edu 37 6 31112958 31112958 + Missense_Mutation SNP G G A rs148460661 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:31112958G>A ENST00000396268.3 - 13 2049 c.1861C>T c.(1861-1863)Cgg>Tgg p.R621W CCHCR1_ENST00000376266.5_Missense_Mutation_p.R532W|CCHCR1_ENST00000396263.2_Missense_Mutation_p.R479W|CCHCR1_ENST00000451521.2_Missense_Mutation_p.R585W NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 532 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 TCCCGAGCCCGGCCCACCTCC 0.637000 3 32 0 0 1 0 0 MRPL11 65003 broad.mit.edu 37 11 66204693 66204693 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:66204693C>G ENST00000310999.7 - 4 448 c.355G>C c.(355-357)Gag>Cag p.E119Q MRPL11_ENST00000329819.4_Missense_Mutation_p.E119Q|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000430466.2_Missense_Mutation_p.E93Q NM_016050.3 NP_057134.1 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 119 translation structural constituent of ribosome endometrium(3)|lung(2)|ovary(1)|prostate(1) 7 CGGGCAATCTCATACACATGC 0.567000 8 23 0 0 1 0 0 LOC101927648 101927648 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 2 4 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690530 77690530 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:77690530G>C ENST00000521891.2 + 4 3628 c.3180G>C c.(3178-3180)ttG>ttC p.L1060F ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1034F|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1034F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1034F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1034 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGGTCAAGTTGAATCTGGTAC 0.537000 HNSCC(33;0.089) 50 191 0 0 1 0 0 RHOT1 55288 broad.mit.edu 37 17 30519222 30519222 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:30519222G>A ENST00000358365.3 + 9 770 c.543G>A c.(541-543)atG>atA p.M181I RHOT1_ENST00000333942.6_Missense_Mutation_p.M181I|RHOT1_ENST00000581094.1_Missense_Mutation_p.M181I|RHOT1_ENST00000583994.1_Missense_Mutation_p.M54I|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000394692.2_Missense_Mutation_p.M181I|RHOT1_ENST00000545287.2_Missense_Mutation_p.M181I|RHOT1_ENST00000354266.3_Missense_Mutation_p.M160I NM_001033568.1 NP_001028740.1 Q8IXI2 MIRO1_HUMAN ras homolog family member T1 181 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182) ATTTATAGATGAAACCAGCTT 0.274000 20 33 0 0 1 0 0 RRP7BP 91695 broad.mit.edu 37 22 42976311 42976311 + RNA SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:42976311C>G ENST00000357802.2 - 0 164 GCCGTGTGCTCTCACATAGAG 0.517000 3 10 0 0 1 0 0 GPR128 84873 broad.mit.edu 37 3 100354610 100354610 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:100354610C>T ENST00000273352.3 + 5 805 c.537C>T c.(535-537)atC>atT p.I179I GPR128_ENST00000475887.1_5'UTR NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 179 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 CTGAGAACATCACTAGTGCTA 0.343000 22 29 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67313237 67313237 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:67313237C>A ENST00000371026.3 - 8 1276 c.1221G>T c.(1219-1221)atG>atT p.M407I WDR78_ENST00000371023.3_Missense_Mutation_p.M407I|WDR78_ENST00000431318.1_Missense_Mutation_p.M153I NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 407 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 GAACCCGTTCCATAAAAAATA 0.323000 3 30 0.00024832 0.000251979 1 1 0 LGMN 5641 broad.mit.edu 37 14 93172958 93172958 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:93172958G>C ENST00000393218.2 - 13 1398 c.1061C>G c.(1060-1062)tCc>tGc p.S354C LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.S354C|LGMN_ENST00000555699.1_Intron NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 354 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity p.S354F(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TGCCAGCAAGGAGACGATCTT 0.637000 12 17 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982405 201982405 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:201982405G>C ENST00000359651.3 + 6 3976 c.784G>C c.(784-786)Gag>Cag p.E262Q RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.E262Q|ELF3_ENST00000367283.3_Missense_Mutation_p.E262Q P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 262 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.E262*(1) breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGACTGTCTCGAGGGCAAGAA 0.632000 8 45 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102881037 102881037 + RNA SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:102881037G>T ENST00000312132.4 - 0 2737 ACATACATCTGAAGTACAAGG 0.333000 11 21 6.40141e-05 6.56485e-05 1 1 0 MSMP 692094 broad.mit.edu 37 9 35753714 35753714 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:35753714C>T ENST00000436428.2 - 2 321 c.182G>A c.(181-183)cGc>cAc p.R61H MSMP_ENST00000414286.1_5'UTR|RGP1_ENST00000378078.4_3'UTR NM_001044264.2 NP_001037729.1 Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated 61 extracellular region endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 ACAGTCCTTGCGGAGCCAAGA 0.517000 4 16 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 120942060 120942060 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:120942060G>C ENST00000286234.5 + 3 437 c.307G>C c.(307-309)Gat>Cat p.D103H DEPTOR_ENST00000523492.1_Intron NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 103 DEP 1. intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 TTCAGTGTGTGATGAGCATAA 0.368000 78 42 0 0 1 0 0 ACPT 93650 broad.mit.edu 37 19 51297831 51297831 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:51297831G>C ENST00000270593.1 + 9 979 c.979G>C c.(979-981)Gat>Cat p.D327H ACPT_ENST00000270594.3_Missense_Mutation_p.D234H NM_033068.2 NP_149059.1 Q9BZG2 PPAT_HUMAN acid phosphatase, testicular 327 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCCCGCCAAAGATGGAGGGTG 0.622000 4 25 0 0 1 0 0 TBCK 93627 broad.mit.edu 37 4 107037492 107037492 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:107037492G>A ENST00000273980.5 - 25 2726 c.2279C>T c.(2278-2280)tCa>tTa p.S760L TBCK_ENST00000432496.2_Missense_Mutation_p.S760L|TBCK_ENST00000361687.4_Missense_Mutation_p.S697L|TBCK_ENST00000394706.3_Missense_Mutation_p.S721L|TBCK_ENST00000394708.2_Missense_Mutation_p.S760L|TBCK_ENST00000514689.1_5'UTR Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 AATCCGTGGTGATACTTCTGA 0.358000 12 53 0 0 1 0 0 NBPF12 149013 broad.mit.edu 37 1 146398396 146398396 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:146398396C>G ENST00000442909.2 + 7 1218 c.382C>G c.(382-384)Cag>Gag p.Q128E NBPF12_ENST00000309471.8_Missense_Mutation_p.Q53E|NBPF12_ENST00000446760.2_Missense_Mutation_p.Q128E neuroblastoma breakpoint family, member 12 ovary(2) 2 TGAGCATCTCCAGGCCCTCCT 0.552000 74 52 0 0 1 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22555000 22555000 + RNA SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:22555000G>C ENST00000390451.2 + 0 171 TGATAGTCCAGAAAGGAGGGA 0.428000 3 17 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55598801 55598801 + Nonsense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:55598801G>T ENST00000201647.6 + 19 2139 c.2083G>T c.(2083-2085)Gag>Tag p.E695* EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.E631*|EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.E381*|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.E568* NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 695 E -> G (in Ref. 4; BAC11399). cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTCGCTGCTGGAGGTGAGCCG 0.672000 15 54 1.15088e-07 1.19295e-07 1 1 0 ABHD13 84945 broad.mit.edu 37 13 108881641 108881641 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:108881641C>T ENST00000375898.3 + 2 376 c.75C>T c.(73-75)ctC>ctT p.L25L NM_032859.2 NP_116248.2 Q7L211 ABHDD_HUMAN abhydrolase domain containing 13 25 integral to membrane hydrolase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTTGGGCTCTCTGCCGTATTT 0.378000 17 50 0 0 1 0 0 WDR25 79446 broad.mit.edu 37 14 100847571 100847571 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:100847571C>G ENST00000335290.6 + 2 536 c.310C>G c.(310-312)Caa>Gaa p.Q104E WDR25_ENST00000554175.1_Missense_Mutation_p.Q104E|WDR25_ENST00000554998.1_Missense_Mutation_p.Q104E|WDR25_ENST00000402312.3_Missense_Mutation_p.Q104E NM_024515.4 NP_078791.3 Q64LD2 WDR25_HUMAN WD repeat domain 25 104 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1) 20 Melanoma(154;0.212) GAAGGAGCCTCAAGTCACCTT 0.587000 12 29 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2273142 2273142 + Splice_Site SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:2273142C>G ENST00000290974.2 - 12 2768 c.e12-1 ZFYVE28_ENST00000511071.1_Splice_Site|ZFYVE28_ENST00000515312.1_Splice_Site|ZFYVE28_ENST00000508471.1_Splice_Site NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TCCGGGGGGTCTGTCACAACA 0.662000 8 7 0 0 1 0 0 UAP1L1 91373 broad.mit.edu 37 9 139975232 139975232 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:139975232C>T ENST00000409858.3 + 7 1302 c.1270C>T c.(1270-1272)Cgc>Tgc p.R424C UAP1L1_ENST00000360271.3_Missense_Mutation_p.R301C NM_207309.2 NP_997192.2 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 1 424 nucleotidyltransferase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CCGCACCGCTCGCCAGGCCCT 0.677000 14 19 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149908108 149908108 + Silent SNP A A G rs1868992 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:149908108A>G ENST00000439741.2 - 2 331 c.81T>C c.(79-81)aaT>aaC p.N27N MTMR11_ENST00000406732.3_5'UTR|MTMR11_ENST00000369140.3_5'UTR|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Silent_p.N27N NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 27 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCGGCATCCTATTTTCCTGGA 0.557000 5 88 0 0 1 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911506 100911506 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chrX:100911506C>T ENST00000328766.5 - 5 1522 c.1069G>A c.(1069-1071)Gag>Aag p.E357K ARMCX2_ENST00000330154.2_Missense_Mutation_p.E357K|ARMCX2_ENST00000356824.4_Missense_Mutation_p.E357K NM_014782.5 NP_055597.1 Q7L311 ARMX2_HUMAN armadillo repeat containing, X-linked 2 357 integral to membrane binding NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 CGCTGGGTCTCGGGCTCAGAG 0.567000 11 15 0 0 1 0 0 AMY1A 276 broad.mit.edu 37 1 104203056 104203056 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:104203056G>A ENST00000370083.4 + 7 1173 c.953G>A c.(952-954)cGa>cAa p.R318Q NM_001008221.1|NM_004038.3 NP_001008222.1|NP_004029.2 amylase, alpha 1A (salivary) all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) GACAATCAACGAGGACATGGC 0.413000 50 163 0 0 1 0 0 OR5D16 390144 broad.mit.edu 37 11 55606700 55606700 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:55606700C>A ENST00000378396.1 + 1 473 c.473C>A c.(472-474)tCc>tAc p.S158Y NM_001005496.1 NP_001005496.1 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, member 16 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S158F(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) GTCGCATGTTCCCTGACACTC 0.448000 11 39 0.0809354 0.0814423 1 1 0 ARSJ 79642 broad.mit.edu 37 4 114823986 114823986 + Missense_Mutation SNP C C T rs75252202 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:114823986C>T ENST00000315366.7 - 2 2110 c.1244G>A c.(1243-1245)cGa>cAa p.R415Q ARSJ_ENST00000541197.1_Missense_Mutation_p.R415Q NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 415 extracellular region arylsulfatase activity|metal ion binding 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) AATATCTACTCGGGGTGAGCG 0.483000 40 54 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82879569 82879569 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:82879569C>G ENST00000298281.4 + 8 2644 c.2192C>G c.(2191-2193)tCa>tGa p.S731* NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 731 Gly-rich. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 AGTCCAGCATCAAGATTCGCC 0.453000 16 37 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348312 89348312 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:89348312C>T ENST00000301030.4 - 9 5098 c.4638G>A c.(4636-4638)gtG>gtA p.V1546V ANKRD11_ENST00000378330.2_Silent_p.V1546V NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1546 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGCTCATCTTCACTGGGTCGC 0.572000 21 14 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59739443 59739443 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:59739443C>T ENST00000361421.1 - 6 1163 c.943G>A c.(943-945)Gag>Aag p.E315K NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 315 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TTCGCAGCCTCGGTTTTCTTT 0.413000 14 48 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113529362 113529362 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:113529362G>A ENST00000297405.5 - 28 4901 c.4657C>T c.(4657-4659)Caa>Taa p.Q1553* CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q1449*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q1553*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q1513* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1553 Sushi 8. integral to membrane|plasma membrane p.Q1513*(1)|p.Q1553*(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 GGGTCACATTGAAAAACAACA 0.498000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 109 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42911597 42911597 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:42911597C>G ENST00000244289.4 - 6 2142 c.1866G>C c.(1864-1866)ctG>ctC p.L622L LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 622 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TGGACTTTATCAGGCTGCTGA 0.667000 7 21 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238285439 238285439 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:238285439C>G ENST00000295550.4 - 7 3498 c.3046G>C c.(3046-3048)Gtg>Ctg p.V1016L COL6A3_ENST00000346358.4_Missense_Mutation_p.V816L|COL6A3_ENST00000409809.1_Missense_Mutation_p.V810L|COL6A3_ENST00000353578.4_Missense_Mutation_p.V810L|COL6A3_ENST00000392004.3_Missense_Mutation_p.V810L|COL6A3_ENST00000392003.2_Missense_Mutation_p.V609L|COL6A3_ENST00000472056.1_Missense_Mutation_p.V409L|COL6A3_ENST00000347401.3_Missense_Mutation_p.V815L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1016 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCGTTGTGCACTGATTTTAAG 0.498000 30 107 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239185789 239185789 + Silent SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:239185789T>C ENST00000254657.3 - 3 555 c.276A>G c.(274-276)ccA>ccG p.P92P PER2_ENST00000440245.1_Silent_p.P92P|PER2_ENST00000254658.3_Silent_p.P92P|PER2_ENST00000355768.2_Silent_p.P92P NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 92 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CACTTGTAGATGGGTTGTGTT 0.368000 75 66 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28206336 28206336 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:28206336C>T ENST00000373921.3 + 3 421 c.417C>T c.(415-417)ctC>ctT p.L139L THEMIS2_ENST00000328928.7_Silent_p.L139L|THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000373925.1_Silent_p.L139L NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 TGATGCACCTCGGGATCCGCT 0.617000 6 18 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166172019 166172019 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:166172019C>T ENST00000375437.2 + 11 1712 c.1422C>T c.(1420-1422)ttC>ttT p.F474F SCN2A_ENST00000375427.2_Silent_p.F474F|SCN2A_ENST00000357398.3_Silent_p.F474F|SCN2A_ENST00000283256.6_Silent_p.F474F NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 474 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CAAGAGACTTCAGTGGTGCTG 0.408000 12 28 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6718277 6718277 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:6718277G>C ENST00000245907.6 - 3 506 c.414C>G c.(412-414)atC>atG p.I138M NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 138 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CAGGGGTGTAGATGGTCTTGT 0.657000 10 15 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21492746 21492746 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:21492746G>C ENST00000313654.9 + 56 7471 c.7230G>C c.(7228-7230)ttG>ttC p.L2410F LAMA3_ENST00000587184.1_Missense_Mutation_p.L745F|LAMA3_ENST00000269217.6_Missense_Mutation_p.L801F|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2354F|LAMA3_ENST00000588770.1_3'UTR NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2410 Laminin G-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGAAGATTTGAAAGGATATA 0.428000 29 29 0 0 1 0 0 SS18L1 26039 broad.mit.edu 37 20 60734982 60734982 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:60734982G>A ENST00000331758.3 + 3 222 c.196G>A c.(196-198)Gac>Aac p.D66N SS18L1_ENST00000421564.1_Missense_Mutation_p.D66N|SS18L1_ENST00000370848.4_Missense_Mutation_p.D69N NM_198935.1 NP_945173.1 O75177 CREST_HUMAN synovial sarcoma translocation gene on chromosome 18-like 1 66 N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) CACGATCGCAGACTCCAACCA 0.617000 T SSX1 synovial sarcoma 5 2 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112764549 112764549 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:112764549G>A ENST00000369452.4 + 5 1503 c.1158G>A c.(1156-1158)atG>atA p.M386I SHOC2_ENST00000265277.5_Missense_Mutation_p.M340I|SHOC2_ENST00000489390.1_3'UTR NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 386 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) AGCTGAATATGAAGGTAAGCA 0.338000 12 12 0 0 1 0 0 PTTG1IP 754 broad.mit.edu 37 21 46285354 46285354 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr21:46285354G>A ENST00000330938.3 - 2 344 c.124C>T c.(124-126)Cag>Tag p.Q42* PTTG1IP_ENST00000445724.2_Nonsense_Mutation_p.Q42*|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Nonsense_Mutation_p.Q42* NM_004339.3 NP_004330.1 P53801 PTTG_HUMAN pituitary tumor-transforming 1 interacting protein 42 PSI. protein import into nucleus cytoplasm|integral to membrane|nucleus ovary(1)|prostate(1) 2 Colorectal(79;0.0659) TTTGTGTTCTGAGAACAAGCT 0.522000 12 3 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142178485 142178485 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:142178485G>A ENST00000519811.1 + 13 2206 c.2136G>A c.(2134-2136)tcG>tcA p.S712S DENND3_ENST00000262585.2_Silent_p.S632S|DENND3_ENST00000424248.1_Silent_p.S580S A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 632 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) ACGAGGCCTCGAAGCTGGACG 0.617000 88 27 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101605692 101605692 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:101605692G>A ENST00000284395.5 + 33 5441 c.5041G>A c.(5041-5043)Gaa>Aaa p.E1681K LRRK1_ENST00000388948.3_Missense_Mutation_p.E1684K|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1684 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E1696K(1) breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CATCGCGGATGAAGACGCACG 0.607000 44 37 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122687887 122687887 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:122687887C>G ENST00000339777.4 + 12 1897 c.1869C>G c.(1867-1869)atC>atG p.I623M LRRC43_ENST00000425921.1_Missense_Mutation_p.I438M NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 623 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGATTCCGATCTACGAAGGCG 0.612000 10 38 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15375389 15375389 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:15375389C>G ENST00000263377.2 - 6 1259 c.1038G>C c.(1036-1038)aaG>aaC p.K346N BRD4_ENST00000360016.5_Missense_Mutation_p.K346N|BRD4_ENST00000371835.4_Missense_Mutation_p.K346N NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 346 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CCTTGCTGCTCTTCTCTGGTG 0.622000 T C15orf55 lethal midline carcinoma of young people OREG0025319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 40 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24914444 24914444 + Silent SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:24914444C>A ENST00000405141.1 + 10 1338 c.627C>A c.(625-627)acC>acA p.T209T NCOA1_ENST00000288599.5_Silent_p.T209T|NCOA1_ENST00000348332.3_Silent_p.T209T|NCOA1_ENST00000407230.1_Silent_p.T58T|NCOA1_ENST00000395856.3_Silent_p.T209T|NCOA1_ENST00000538539.1_Silent_p.T209T|NCOA1_ENST00000406961.1_Silent_p.T209T Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 209 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCCAGGGACCGAGAACCAAG 0.473000 T PAX3 alveolar rhadomyosarcoma 17 72 8.60227e-14 9.19356e-14 1 1 0 SVEP1 79987 broad.mit.edu 37 9 113241935 113241935 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:113241935C>G ENST00000401783.2 - 13 2803 c.2467G>C c.(2467-2469)Gag>Cag p.E823Q SVEP1_ENST00000302728.8_Missense_Mutation_p.E823Q|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.E800Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.E800Q NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 823 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 AGGGTCGTCTCAAATGCTTCA 0.383000 38 88 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150004897 150004897 + Nonsense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:150004897G>C ENST00000543571.1 - 4 1875 c.1328C>G c.(1327-1329)tCa>tGa p.S443* LATS1_ENST00000253339.5_Nonsense_Mutation_p.S443*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.S443* NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 443 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GCTCGGGGATGACTGGGCTGG 0.428000 70 74 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124376605 124376605 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:124376605G>A ENST00000291478.5 + 8 1060 c.897G>A c.(895-897)aaG>aaA p.K299K KALRN_ENST00000459915.1_Silent_p.K88K|KALRN_ENST00000393496.1_Silent_p.K337K|KALRN_ENST00000360013.3_Silent_p.K1996K|KALRN_ENST00000428018.2_Silent_p.K267K NM_007064.3 NP_008995.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AACTGGAAAAGTGTATCCAGG 0.408000 32 41 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160829861 160829861 + Silent SNP A A T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:160829861A>T ENST00000392145.1 + 4 792 c.765A>T c.(763-765)atA>atT p.I255I SLC22A3_ENST00000275300.2_Silent_p.I255I O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 255 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TTGGAATCATAATTCTCCCTG 0.428000 28 30 0 0 1 0 0 ZNF57 126295 broad.mit.edu 37 19 2917760 2917760 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:2917760G>A ENST00000306908.5 + 4 1289 c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E349K NM_173480.2 NP_775751.1 Q68EA5 ZNF57_HUMAN zinc finger protein 57 381 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18) AACGTTTAGAGAACATGTGAG 0.443000 9 50 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178274877 178274877 + Silent SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:178274877T>C ENST00000264596.3 + 8 1573 c.1455T>C c.(1453-1455)tcT>tcC p.S485S RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 485 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) CTGGATATTCTAACAGGTATG 0.363000 Base excision repair (BER), DNA glycosylases 28 21 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011443 160011443 + Missense_Mutation SNP A A T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:160011443A>T ENST00000368089.3 - 2 1106 c.880T>A c.(880-882)Tgt>Agt p.C294S KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 294 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGCACCTGACAGGTGGCACTG 0.542000 37 15 0 0 1 0 0 PPAPDC1B 84513 broad.mit.edu 37 8 38123798 38123798 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:38123798G>A ENST00000529359.1 - 5 570 c.372C>T c.(370-372)ttC>ttT p.F124F PPAPDC1B_ENST00000424479.2_Silent_p.F165F|PPAPDC1B_ENST00000422581.2_Silent_p.F165F|PPAPDC1B_ENST00000531823.1_Silent_p.F33F Q8NEB5 PPC1B_HUMAN phosphatidic acid phosphatase type 2 domain containing 1B 165 phospholipid dephosphorylation cytoplasm|integral to membrane|plasma membrane phosphatidate phosphatase activity kidney(1)|lung(1) 2 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188) CTGCCAGGTAGAAGGACGCAA 0.463000 4 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179576811 179576811 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:179576811G>A ENST00000589042.1 - 96 27970 c.27746C>T c.(27745-27747)aCg>aTg p.T9249M TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T8932M|TTN_ENST00000342992.6_Missense_Mutation_p.T8005M|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8932 Ig-like 75. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T8005M(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) TTTGTAAGTCGTAGTGGGTCT 0.403000 6 37 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106552896 106552896 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:106552896G>A ENST00000369096.4 + 5 1095 c.861G>A c.(859-861)ggG>ggA p.G287G PRDM1_ENST00000369091.2_Silent_p.G251G|PRDM1_ENST00000369089.3_Silent_p.G153G NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 287 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GAAGACGTGGGAGCCCCGAAA 0.527000 """D, N, Mis, F, S""" DLBCL 33 149 0 0 1 0 0 ZNF510 22869 broad.mit.edu 37 9 99522488 99522488 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:99522488C>G ENST00000375231.1 - 6 1274 c.624G>C c.(622-624)gaG>gaC p.E208D ZNF510_ENST00000223428.4_Missense_Mutation_p.E208D Q9Y2H8 ZN510_HUMAN zinc finger protein 510 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1) 21 Acute lymphoblastic leukemia(62;0.0527) AAGGTGAATTCTCACATACAT 0.279000 8 8 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81443205 81443205 + RNA SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:81443205T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA GAATGAGCCATAGAAGTGGGA 0.547000 8 5 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62122781 62122781 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:62122781C>T ENST00000433197.3 - 20 2686 c.2591G>A c.(2590-2592)aGa>aAa p.R864K NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 TCTCCCGCCTCTCTCTAACTG 0.557000 14 25 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42812951 42812951 + Splice_Site SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr21:42812951C>A ENST00000398600.2 + 11 1754 c.729C>A c.(727-729)atC>atA p.I243I MX1_ENST00000398598.3_Splice_Site_p.I243I|MX1_ENST00000288383.6_Splice_Site_p.I220I|MX1_ENST00000455164.2_Splice_Site_p.I243I NM_001144925.1 NP_001138397.1 P20591 MX1_HUMAN myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) 243 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) ACAGGACCATCGGTGAGAGTG 0.637000 18 19 1.96292e-10 2.06578e-10 1 1 0 HMCN1 83872 broad.mit.edu 37 1 185966560 185966560 + Splice_Site SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:185966560G>C ENST00000271588.4 + 25 4007 c.e25-1 HMCN1_ENST00000367492.2_Splice_Site NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TTTCCTAATAGAACCACCCAC 0.403000 5 41 0 0 1 0 0 PPP5C 5536 broad.mit.edu 37 19 46893544 46893544 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:46893544C>T ENST00000012443.4 + 13 1544 c.1441C>T c.(1441-1443)Cat>Tat p.H481Y PPP5C_ENST00000391919.1_Missense_Mutation_p.H353Y NM_006247.3 NP_006238.1 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 481 Catalytic. mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1) 18 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) CCCACAGCCTCATCCCAACGT 0.637000 3 3 0 0 1 0 0 ZFAT 57623 broad.mit.edu 37 8 135602534 135602534 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:135602534G>A ENST00000520727.1 - 9 2803 c.2504C>T c.(2503-2505)tCa>tTa p.S835L ZFAT_ENST00000429442.2_Missense_Mutation_p.S835L|ZFAT_ENST00000520214.1_Missense_Mutation_p.S835L|ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000523399.1_Missense_Mutation_p.S785L|ZFAT_ENST00000377838.3_Missense_Mutation_p.S847L|ZFAT_ENST00000520356.1_Missense_Mutation_p.S835L NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 847 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CTTGATATGTGACTTTATCAA 0.313000 57 24 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28497368 28497368 + Silent SNP A A G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:28497368A>G ENST00000412168.2 + 2 317 c.228A>G c.(226-228)acA>acG p.T76T GPX5_ENST00000442674.2_3'UTR|GPX5_ENST00000469384.1_Silent_p.T76T NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 76 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GTGGTCTGACAGCGCAATATC 0.378000 11 31 0 0 1 0 0 PDSS2 57107 broad.mit.edu 37 6 107531746 107531746 + Missense_Mutation SNP T T A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:107531746T>A ENST00000369037.4 - 6 1182 c.905A>T c.(904-906)aAa>aTa p.K302I PDSS2_ENST00000453874.2_Intron NM_020381.3 NP_065114.3 Q86YH6 DLP1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 2 302 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion protein heterodimerization activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3) 19 Breast(9;0.0127) all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211) BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243) BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191) GGTCTTTTCTTTAATAAAAGG 0.313000 4 48 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37838803 37838803 + Nonsense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:37838803G>T ENST00000327441.7 + 11 1376 c.910G>T c.(910-912)Gaa>Taa p.E304* MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.E304*|MIPOL1_ENST00000539062.2_Nonsense_Mutation_p.E273*|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.E304*|MIPOL1_ENST00000536774.1_Nonsense_Mutation_p.E123*|MIPOL1_ENST00000545536.1_Nonsense_Mutation_p.E273*|MIPOL1_ENST00000556451.1_Nonsense_Mutation_p.E273* NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 304 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) TCTGACTGCTGAAAACAATCA 0.458000 20 12 1.96292e-10 2.06578e-10 1 1 0 CIDECP 152302 broad.mit.edu 37 3 10065426 10065426 + RNA SNP C C T rs6803517 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:10065426C>T ENST00000432401.1 - 0 322 GTGGGTGCCTCGTCCCCTGCA 0.502000 6 53 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184009934 184009934 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:184009934G>A ENST00000402825.3 + 19 2560 c.2560G>A c.(2560-2562)Ggc>Agc p.G854S ECE2_ENST00000404464.3_Missense_Mutation_p.G736S|ECE2_ENST00000359140.4_Missense_Mutation_p.G707S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.G782S NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 854 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGCGTGCTGGGCACTCTCTC 0.672000 3 43 0 0 1 0 0 EARS2 124454 broad.mit.edu 37 16 23536474 23536474 + Nonsense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:23536474C>A ENST00000563232.1 - 8 1579 c.1579G>T c.(1579-1581)Gag>Tag p.E527* EARS2_ENST00000563459.1_Intron|EARS2_ENST00000564501.1_Missense_Mutation_p.L502F|EARS2_ENST00000449606.1_Intron|EARS2_ENST00000564987.1_Intron Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2, mitochondrial 0 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) tttgtatactcaatattgagc 0.453000 4 18 2.56e-06 2.63658e-06 1 1 0 BRIP1 83990 broad.mit.edu 37 17 59885937 59885937 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:59885937C>A ENST00000259008.2 - 7 1076 c.809G>T c.(808-810)gGg>gTg p.G270V BRIP1_ENST00000577598.1_Missense_Mutation_p.G270V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 270 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CATTGGAACCCCTGAATATGC 0.443000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 5 111 0.000602214 0.000609805 1 1 0 ACTR5 79913 broad.mit.edu 37 20 37394955 37394955 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:37394955C>T ENST00000243903.4 + 7 1405 c.1368C>T c.(1366-1368)ttC>ttT p.F456F NM_024855.3 NP_079131.3 Q9H9F9 ARP5_HUMAN ARP5 actin-related protein 5 homolog (yeast) 456 DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair cytoplasm|Ino80 complex ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) AGATTATTTTCCAGCCATCTC 0.428000 18 57 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41377721 41377721 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:41377721G>A ENST00000361937.3 - 7 1143 c.719C>T c.(718-720)tCc>tTc p.S240F INO80_ENST00000401393.3_Missense_Mutation_p.S240F Q9ULG1 INO80_HUMAN INO80 complex subunit 240 Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GCGACGAGGGGATTCTTCAGA 0.453000 13 42 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128153310 128153310 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:128153310G>A ENST00000284694.7 - 4 1609 c.1489C>T c.(1489-1491)Ctg>Ttg p.L497L C10orf90_ENST00000356858.3_Silent_p.L450L|C10orf90_ENST00000544758.1_Silent_p.L594L|C10orf90_ENST00000454341.1_Intron NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 497 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TCTTCCTGCAGAGATGCACAT 0.453000 76 85 0 0 1 0 0 MOCOS 55034 broad.mit.edu 37 18 33836933 33836933 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:33836933C>G ENST00000261326.5 + 12 2188 c.2167C>G c.(2167-2169)Caa>Gaa p.Q723E MOCOS_ENST00000588132.1_3'UTR NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 723 MOSC. Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) ATTTTCAGATCAACTTCCTGG 0.393000 23 96 0 0 1 0 0 SAMSN1 64092 broad.mit.edu 37 21 15882715 15882715 + Silent SNP G G A rs72345528 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr21:15882715G>A ENST00000285670.2 - 6 855 c.681C>T c.(679-681)ccC>ccT p.P227P SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.P159P NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 159 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GTCCTGAATAGGGGCCATCGT 0.493000 3 37 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54125027 54125027 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:54125027C>G ENST00000404125.1 - 31 3641 c.3586G>C c.(3586-3588)Gat>Cat p.D1196H PSME4_ENST00000421748.2_Missense_Mutation_p.D340H NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 1196 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) ACAATTGCATCATGGTTGAGA 0.403000 39 89 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13601105 13601105 + Silent SNP A A G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:13601105A>G ENST00000040738.5 - 10 7554 c.7419T>C c.(7417-7419)gaT>gaC p.D2473D NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 2473 DNA binding CTGGGCTCTTATCTTCTTTCT 0.478000 OREG0016115 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 28 0 0 1 0 0 KCTD13 253980 broad.mit.edu 37 16 29937157 29937157 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:29937157G>C ENST00000568000.1 - 1 1199 c.198C>G c.(196-198)ctC>ctG p.L66L KCTD13_ENST00000568721.1_5'UTR|KCTD13_ENST00000561540.1_Silent_p.L66L NM_178863.3 NP_849194.1 Q8WZ19 BACD1_HUMAN potassium channel tetramerization domain containing 13 66 BTB. cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 7 ACATGGCTTTGAGCATGGTGT 0.657000 3 25 0 0 1 0 0 SPATS2L 26010 broad.mit.edu 37 2 201324545 201324545 + Missense_Mutation SNP A A C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:201324545A>C ENST00000358677.5 + 9 1089 c.842A>C c.(841-843)gAa>gCa p.E281A SPATS2L_ENST00000409140.3_Missense_Mutation_p.E281A|SPATS2L_ENST00000451764.2_Missense_Mutation_p.E281A|SPATS2L_ENST00000360760.5_Missense_Mutation_p.E212A|SPATS2L_ENST00000409385.1_Missense_Mutation_p.E221A|SPATS2L_ENST00000409988.3_Missense_Mutation_p.E281A|SPATS2L_ENST00000409755.3_Missense_Mutation_p.E311A|SPATS2L_ENST00000409151.1_Missense_Mutation_p.E289A|SPATS2L_ENST00000409718.1_Missense_Mutation_p.E281A NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2 NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2 Q9NUQ6 SPS2L_HUMAN spermatogenesis associated, serine-rich 2-like cytoplasm|nucleolus endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 10 GTTAAAGAAGAAGCCAGTAAG 0.368000 13 6 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50475326 50475326 + RNA SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:50475326C>T ENST00000602139.1 + 0 1272 sialic acid binding Ig-like lectin 16 (gene/pseudogene) endometrium(2)|kidney(2)|lung(6) 10 CCGCTGGGCTCCCAGCGCGTC 0.672000 8 30 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242035497 242035497 + Missense_Mutation SNP A A C rs149743211 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:242035497A>C ENST00000391980.2 - 4 1120 c.1062T>G c.(1060-1062)gaT>gaG p.D354E MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.D166E|MTERFD2_ENST00000464344.2_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 354 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) catcattgtcatcctcatcat 0.522000 4 30 0 0 1 0 0 DCPS 28960 broad.mit.edu 37 11 126208199 126208199 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:126208199G>A ENST00000263579.4 + 4 870 c.541G>A c.(541-543)Gac>Aac p.D181N DCPS_ENST00000530860.1_Intron NM_014026.3 NP_054745.1 Q96C86 DCPS_HUMAN decapping enzyme, scavenger 181 deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus exoribonuclease activity|protein binding endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08) TAACATTCTCGACAAGAAGGC 0.502000 12 22 0 0 1 0 0 AUP1 550 broad.mit.edu 37 2 74755396 74755396 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:74755396G>C ENST00000377526.3 - 6 959 c.650C>G c.(649-651)cCt>cGt p.P217R NM_181575.3 NP_853553.1 Q9Y679 AUP1_HUMAN ancient ubiquitous protein 1 283 endoplasmic reticulum membrane|integral to membrane|nucleus protein binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 11 CACCGTGAAAGGGACGAAAAG 0.552000 12 65 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56041210 56041210 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:56041210G>A ENST00000413299.1 - 4 974 c.937C>T c.(937-939)Cga>Tga p.R313* SBK2_ENST00000344158.3_Nonsense_Mutation_p.R313* NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 313 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CTCCTCCTTCGGGGGTGAGGG 0.761000 8 12 0 0 1 0 0 MTHFR 4524 broad.mit.edu 37 1 11863056 11863056 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:11863056C>T ENST00000376592.1 - 1 246 c.118G>A c.(118-120)Gag>Aag p.E40K MTHFR_ENST00000376585.1_Missense_Mutation_p.E81K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E81K|MTHFR_ENST00000376590.3_Missense_Mutation_p.E40K P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 40 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) TCATGCCGCTCGGGGTCCAGG 0.592000 15 12 0 0 1 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20470056 20470056 + Missense_Mutation SNP G G A rs145617803 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:20470056G>A ENST00000375102.3 + 3 389 c.287G>A c.(286-288)cGt>cAt p.R96H NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 53 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CTGGGGGGCCGTGGCCAGCCC 0.642000 3 36 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45368350 45368350 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:45368350C>T ENST00000559488.1 + 9 1172 c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C ITGB3_ENST00000560629.1_Missense_Mutation_p.A374V|ITGB3_ENST00000435993.2_Missense_Mutation_p.R339C|ITGB3_ENST00000571680.1_Missense_Mutation_p.R386C NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 386 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) GCTGGAAGTGCGTGACCTCCC 0.473000 36 40 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42237184 42237184 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:42237184G>A ENST00000541110.1 - 5 713 c.145C>T c.(145-147)Cag>Tag p.Q49* TRERF1_ENST00000340840.2_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000372922.4_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000354325.2_Nonsense_Mutation_p.Q49*|TRERF1_ENST00000372917.4_Nonsense_Mutation_p.Q49* Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 49 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCGAGGCCTGAGGGGCATCC 0.562000 15 46 0 0 1 0 0 CMSS1 84319 broad.mit.edu 37 3 99885224 99885224 + Nonsense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:99885224C>G ENST00000421999.2 + 5 547 c.401C>G c.(400-402)tCa>tGa p.S134* CMSS1_ENST00000489081.1_Nonsense_Mutation_p.S116* NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) AGTCTTTCCTCATACCTAAAA 0.313000 12 25 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50346463 50346463 + Silent SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:50346463G>T ENST00000338821.5 - 2 387 c.123C>A c.(121-123)gtC>gtA p.V41V ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Silent_p.V26V|ATP9A_ENST00000402822.1_Silent_p.V41V NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 41 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCCCCAGCCAGACAGTGCGGG 0.587000 20 76 6.44725e-10 6.7556e-10 1 1 0 ABL1 25 broad.mit.edu 37 9 133759600 133759600 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:133759600C>T ENST00000318560.5 + 11 2304 c.1923C>T c.(1921-1923)atC>atT p.I641I NM_005157.4 NP_005148.2 P00519 ABL1_HUMAN c-abl oncogene 1, non-receptor tyrosine kinase 641 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GCCGAGACATCAGCAACGGGG 0.672000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 23 25 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155532414 155532414 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:155532414C>A ENST00000461783.3 + 17 4414 c.3141C>A c.(3139-3141)caC>caA p.H1047Q TIAM2_ENST00000367174.2_Missense_Mutation_p.H423Q|TIAM2_ENST00000528391.2_Missense_Mutation_p.H383Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.H1071Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.H1047Q|TIAM2_ENST00000456877.2_Missense_Mutation_p.H359Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.H1047Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.H1047Q Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1047 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) AGGTTTCCCACAGGGAGAAAA 0.463000 5 19 8.12818e-05 8.30039e-05 1 1 0 LAMB2 3913 broad.mit.edu 37 3 49159500 49159500 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:49159500C>T ENST00000418109.1 - 30 4964 c.4800G>A c.(4798-4800)gaG>gaA p.E1600E LAMB2_ENST00000305544.4_Silent_p.E1600E NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1600 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTTCTGTTTCTCATCCTCAG 0.622000 14 15 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52927207 52927207 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:52927207G>A ENST00000354452.3 - 13 1653 c.1042C>T c.(1042-1044)Cct>Tct p.P348S TCF4_ENST00000570177.2_Missense_Mutation_p.P218S|TCF4_ENST00000568740.1_Missense_Mutation_p.P323S|TCF4_ENST00000564403.2_Missense_Mutation_p.P354S|TCF4_ENST00000564228.1_Missense_Mutation_p.P277S|TCF4_ENST00000561831.3_Missense_Mutation_p.P188S|TCF4_ENST00000565018.2_Missense_Mutation_p.P348S|TCF4_ENST00000540999.1_Missense_Mutation_p.P324S|TCF4_ENST00000561992.1_Missense_Mutation_p.P218S|TCF4_ENST00000567880.1_Missense_Mutation_p.P288S|TCF4_ENST00000356073.4_Missense_Mutation_p.P348S|TCF4_ENST00000566286.1_Missense_Mutation_p.P346S|TCF4_ENST00000398339.1_Missense_Mutation_p.P450S|TCF4_ENST00000566279.1_Missense_Mutation_p.P288S|TCF4_ENST00000537578.1_Missense_Mutation_p.P324S|TCF4_ENST00000564999.1_Missense_Mutation_p.P348S|TCF4_ENST00000568673.1_Missense_Mutation_p.P324S|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000544241.2_Missense_Mutation_p.P277S|TCF4_ENST00000457482.3_Missense_Mutation_p.P188S|TCF4_ENST00000543082.1_Missense_Mutation_p.P306S|TCF4_ENST00000537856.3_Missense_Mutation_p.P218S|TCF4_ENST00000570287.2_Missense_Mutation_p.P188S NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 348 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) GAGCCAACAGGAGTTGAAGGG 0.348000 42 55 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44085066 44085066 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:44085066C>T ENST00000359947.4 + 28 5094 c.4754C>T c.(4753-4755)tCa>tTa p.S1585L PTPRF_ENST00000438120.1_Missense_Mutation_p.S1576L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.S1576L|PTPRF_ENST00000422171.2_Missense_Mutation_p.S944L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S1585L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1585 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) TGCATGCGATCACAGAGGAAC 0.607000 5 24 0 0 1 0 0 PPP2R1B 5519 broad.mit.edu 37 11 111637044 111637044 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:111637044C>T ENST00000527614.1 - 1 107 c.42G>A c.(40-42)gcG>gcA p.A14A PPP2R1B_ENST00000311129.5_Silent_p.A14A|PPP2R1B_ENST00000427203.2_5'UTR|PPP2R1B_ENST00000341980.6_Silent_p.A14A|PPP2R1B_ENST00000393055.2_Silent_p.A14A|PPP2R1B_ENST00000426998.2_Silent_p.A14A NM_001177562.1|NM_002716.4 NP_001171033.1|NP_002707.3 P30154 2AAB_HUMAN protein phosphatase 2, regulatory subunit A, beta 14 protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2) 22 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761) CATCTCCACCCGCTGCTCCTG 0.667000 9 16 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73675451 73675451 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:73675451G>A ENST00000264448.6 + 8 1905 c.1794G>A c.(1792-1794)ttG>ttA p.L598L ALMS1_ENST00000377715.1_Silent_p.L598L|ALMS1_ENST00000409009.1_Silent_p.L556L NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 598 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAGAGGCTTTGAAAGTTTCAG 0.483000 19 121 0 0 1 0 0 FTCD 10841 broad.mit.edu 37 21 47558818 47558818 + Missense_Mutation SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr21:47558818T>C ENST00000397748.1 - 11 1323 c.1280A>G c.(1279-1281)aAg>aGg p.K427R FTCD_ENST00000291670.5_Missense_Mutation_p.K427R|FTCD_ENST00000397746.3_Missense_Mutation_p.K427R|FTCD_ENST00000397743.1_Intron|FTCD_ENST00000359679.2_Missense_Mutation_p.K427R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000355384.2_Intron O95954 FTCD_HUMAN formimidoyltransferase cyclodeaminase 427 Cyclodeaminase/cyclohydrolase (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3) 19 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGGTGTGTTCTTGGGGAGCCT 0.627000 28 2 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216377 149216377 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:149216377G>A ENST00000309241.5 + 8 2391 c.2359G>A c.(2359-2361)Gag>Aag p.E787K PPARGC1B_ENST00000403750.1_Missense_Mutation_p.E723K|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.E748K|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.E787K NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 787 Glu-rich. estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CAAGAGCCCTGAGTATGACAC 0.602000 49 61 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81386604 81386604 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:81386604C>A ENST00000222390.5 - 4 609 c.383G>T c.(382-384)tGc>tTc p.C128F HGF_ENST00000453411.1_Missense_Mutation_p.C128F|HGF_ENST00000457544.2_Missense_Mutation_p.C128F|HGF_ENST00000453018.1_Missense_Mutation_p.C25F|HGF_ENST00000444829.2_Missense_Mutation_p.C128F|HGF_ENST00000423064.2_Missense_Mutation_p.C128F|HGF_ENST00000354224.6_Missense_Mutation_p.C128F NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 128 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 ACCAATGATGCAGTTTCTAAT 0.373000 13 25 0.00010058 0.000102494 1 1 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980380 158980380 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:158980380C>T ENST00000485419.1 + 4 368 c.199C>T c.(199-201)Ctg>Ttg p.L67L IQCJ_ENST00000397832.2_Silent_p.L67L|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.L40L|IQCJ_ENST00000451172.1_Silent_p.L67L|IQCJ_ENST00000482126.1_Silent_p.L40L NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GCAGGAGCCCCTGGGGAAGAG 0.537000 39 53 0 0 1 0 0 PRDX3 10935 broad.mit.edu 37 10 120928696 120928696 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:120928696G>C ENST00000298510.2 - 6 752 c.710C>G c.(709-711)tCt>tGt p.S237C PRDX3_ENST00000356951.3_Missense_Mutation_p.S219C|PRDX3_ENST00000494433.1_5'UTR NM_006793.2 NP_006784.1 P30048 PRDX3_HUMAN peroxiredoxin 3 237 cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of cell proliferation|positive regulation of NF-kappaB transcription factor activity|regulation of mitochondrial membrane potential|response to lipopolysaccharide early endosome|mitochondrion alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding endometrium(1)|lung(2) 3 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0245) TACCGTAGGAGAATCCGGTGT 0.522000 10 59 0 0 1 0 0 KMT2A 4297 broad.mit.edu 37 11 118344283 118344283 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:118344283G>A ENST00000534358.1 + 3 2432 c.2409G>A c.(2407-2409)ctG>ctA p.L803L KMT2A_ENST00000389506.5_Silent_p.L803L|KMT2A_ENST00000354520.4_Silent_p.L803L NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTCATTCCCTGACTCAGTCTG 0.478000 49 44 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210637859 210637859 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:210637859G>A ENST00000367010.1 + 8 1094 c.867G>A c.(865-867)gcG>gcA p.A289A HHAT_ENST00000545154.1_Silent_p.A290A|HHAT_ENST00000308852.6_Silent_p.A244A|HHAT_ENST00000541565.1_Silent_p.A152A|HHAT_ENST00000545781.1_Silent_p.A226A|HHAT_ENST00000391905.3_Silent_p.A289A|HHAT_ENST00000261458.3_Silent_p.A289A|HHAT_ENST00000537898.1_Silent_p.A224A|HHAT_ENST00000413764.2_Silent_p.A289A|HHAT_ENST00000367009.1_5'UTR NM_001170580.1 NP_001164051.1 Q5VTY9 HHAT_HUMAN hedgehog acyltransferase 289 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) GAGGACTGGCGTTAGCCCAGG 0.567000 26 129 0 0 1 0 0 TRIM2 23321 broad.mit.edu 37 4 154215532 154215532 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:154215532C>T ENST00000338700.5 + 5 746 c.681C>T c.(679-681)atC>atT p.I227I TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Silent_p.I200I NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 200 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AGGCCAGCATCGTGGATGACA 0.443000 16 38 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55551623 55551623 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:55551623G>C ENST00000294383.6 - 56 6756 c.6757C>G c.(6757-6759)Cag>Gag p.Q2253E USP24_ENST00000407756.1_Missense_Mutation_p.Q2093E NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2253 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 ACCTTATCCTGATAAAACAAG 0.383000 26 21 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084575 152084575 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:152084575C>T ENST00000368804.1 - 2 1117 c.1118G>A c.(1117-1119)cGc>cAc p.R373H NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 373 5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L. keratinization cytoskeleton calcium ion binding 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) ctgctgctcgcgcctctcctc 0.721000 12 34 0 0 1 0 0 SYT10 341359 broad.mit.edu 37 12 33592576 33592576 + Translation_Start_Site SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:33592576G>C ENST00000228567.3 - 0 178 SYT10_ENST00000535526.1_De_novo_Start_OutOfFrame NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTTGGCTGGAGATTGCGCCGC 0.627000 5 15 0 0 1 0 0 SYT2 127833 broad.mit.edu 37 1 202572216 202572216 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:202572216C>T ENST00000367267.1 - 4 568 c.376G>A c.(376-378)Gag>Aag p.E126K SYT2_ENST00000367268.4_Missense_Mutation_p.E126K NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 126 neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) CCTTCCCCCTCAGTCAGGCCT 0.552000 11 60 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63066419 63066419 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:63066419G>A ENST00000544661.1 + 6 821 c.393G>A c.(391-393)ttG>ttA p.L131L SLC22A10_ENST00000535888.1_Silent_p.L76L|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Silent_p.L126L|SLC22A10_ENST00000332793.6_Silent_p.L286L Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 286 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTCGGTGGTTGATAATCACCA 0.393000 15 33 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52567471 52567471 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:52567471C>G ENST00000313234.5 - 5 841 c.744G>C c.(742-744)ctG>ctC p.L248L KRT80_ENST00000394815.2_Silent_p.L248L NM_001081492.1 NP_001074961.1 Q6KB66 K2C80_HUMAN keratin 80 248 Linker 12.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) CGATGCCGCTCAGGTCGATGT 0.662000 21 15 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51901945 51901945 + Silent SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:51901945T>C ENST00000268919.4 + 1 1707 c.1551T>C c.(1549-1551)atT>atC p.I517I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 517 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTTGCATGATTGCTACCATCT 0.463000 26 24 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123339084 123339084 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:123339084G>A ENST00000360772.3 - 32 5563 c.5185C>T c.(5185-5187)Ccg>Tcg p.P1729S MYLK_ENST00000475616.1_Missense_Mutation_p.P1780S|MYLK_ENST00000359169.1_Missense_Mutation_p.P1729S|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Missense_Mutation_p.P20S|MYLK_ENST00000346322.5_Missense_Mutation_p.P1711S|MYLK_ENST00000354792.5_Missense_Mutation_p.P580S|MYLK_ENST00000418370.2_Missense_Mutation_p.P20S|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000583087.1_Missense_Mutation_p.P20S|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.P1780S Q15746 MYLK_HUMAN myosin light chain kinase 1780 Calmodulin-binding. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCATTGAGCGGGCTGGTTGGT 0.507000 104 82 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42819589 42819589 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:42819589G>A ENST00000598766.1 + 8 715 c.715G>A c.(715-717)Gag>Aag p.E239K TMEM145_ENST00000301204.3_Missense_Mutation_p.E215K Q8NBT3 TM145_HUMAN transmembrane protein 145 215 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) AGCAggagtagagggtgaggt 0.542000 20 33 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35673357 35673357 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:35673357G>A ENST00000396081.1 - 8 1968 c.1164C>T c.(1162-1164)ttC>ttT p.F388F HERPUD2_ENST00000311350.3_Silent_p.F388F NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 388 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 AGGTGGTGATGAAAGACCAAG 0.483000 49 27 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38164578 38164578 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:38164578C>T ENST00000379747.4 - 4 489 c.372G>A c.(370-372)gaG>gaA p.E124E POSTN_ENST00000379749.4_Silent_p.E124E|POSTN_ENST00000379742.4_Silent_p.E124E|POSTN_ENST00000379743.4_Silent_p.E124E|POSTN_ENST00000541179.1_Silent_p.E124E|POSTN_ENST00000541481.1_Silent_p.E124E NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 124 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCTCGATCTCCTCCCTCAGTT 0.433000 8 17 0 0 1 0 0 FTH1P3 2498 broad.mit.edu 37 5 17354041 17354041 + RNA SNP T T C rs7715898 by1000genomes TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:17354041T>C ENST00000511821.1 + 0 23 FTH1P10_ENST00000401830.3_RNA TCCGCCAAGCTAGATTCGGGT 0.488000 3 39 0 0 1 0 0 PNPT1 87178 broad.mit.edu 37 2 55874511 55874511 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:55874511C>T ENST00000447944.2 - 19 1659 c.1573G>A c.(1573-1575)Gaa>Aaa p.E525K NM_033109.3 NP_149100.2 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 525 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CGATAATCTTCTATTTCACCC 0.323000 20 80 0 0 1 0 0 PIK3R2 5296 broad.mit.edu 37 19 18273784 18273784 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:18273784G>A ENST00000593731.1 + 10 1677 c.1117G>A c.(1117-1119)Ggg>Agg p.G373R PIK3R2_ENST00000222254.8_Missense_Mutation_p.G373R O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 373 SH2 1. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding p.G373R(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 CAGGAAAGGCGGGAACAATAA 0.562000 20 17 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12336751 12336751 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:12336751C>T ENST00000358136.3 + 19 3236 c.3106C>T c.(3106-3108)Cgg>Tgg p.R1036W VPS13D_ENST00000356315.4_Missense_Mutation_p.R1036W NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1036 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGGAAGCCTTCGGGATAGCAG 0.483000 OREG0013110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 29 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15508030 15508030 + Silent SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:15508030G>C ENST00000397410.5 - 12 1597 c.1467C>G c.(1465-1467)ctC>ctG p.L489L AKAP8L_ENST00000595465.2_Silent_p.L428L NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGGGAATGAAGAGGTCGCAGG 0.562000 21 60 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6971981 6971981 + Splice_Site SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:6971981C>G ENST00000389658.3 - 48 6868 c.e48-1 NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 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 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) CAGGAGATTTCTAATGCAAAC 0.403000 36 34 0 0 1 0 0 STXBP2 6813 broad.mit.edu 37 19 7703942 7703942 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:7703942C>T ENST00000441779.2 + 3 162 c.125C>T c.(124-126)tCt>tTt p.S42F STXBP2_ENST00000414284.2_Missense_Mutation_p.S42F|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000221283.5_Missense_Mutation_p.S42F NM_001272034.1 NP_001258963.1 Q15833 STXB2_HUMAN syntaxin binding protein 2 42 leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule syntaxin-3 binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 23 CGCATCTTGTCTTCCTGCTGC 0.572000 19 14 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981202 201981202 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:201981202G>A ENST00000359651.3 + 2 3473 c.281G>A c.(280-282)cGa>cAa p.R94Q ELF3_ENST00000367284.5_Missense_Mutation_p.R94Q|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R94Q P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 94 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GACTTCTCACGATGTGACATG 0.582000 13 54 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40871131 40871131 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:40871131C>G ENST00000428826.2 - 8 880 c.759G>C c.(757-759)atG>atC p.M253I EZH1_ENST00000590078.1_Missense_Mutation_p.M183I|EZH1_ENST00000435174.1_Missense_Mutation_p.M114I|EZH1_ENST00000585893.1_Missense_Mutation_p.M213I|EZH1_ENST00000592743.1_Missense_Mutation_p.M253I|EZH1_ENST00000415827.2_Missense_Mutation_p.M244I Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 253 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) ACCTCTCCTTCATGTCATCTG 0.418000 33 135 0 0 1 0 0 VAV2 7410 broad.mit.edu 37 9 136653479 136653479 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:136653479C>G ENST00000371851.1 - 14 1714 c.1389G>C c.(1387-1389)aaG>aaC p.K463N VAV2_ENST00000371850.3_Missense_Mutation_p.K468N|VAV2_ENST00000406606.3_Missense_Mutation_p.K463N P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 468 PH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GCCCCACCTTCTTGACGTCCT 0.612000 11 33 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2115969 2115969 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:2115969G>A ENST00000382203.1 + 25 3813 c.3604G>A c.(3604-3606)Ggc>Agc p.G1202S SMARCA2_ENST00000349721.2_Missense_Mutation_p.G1202S|SMARCA2_ENST00000357248.2_Missense_Mutation_p.G1202S|SMARCA2_ENST00000382194.1_Missense_Mutation_p.G1202S P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 1202 Helicase C-terminal. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GATCCAGGCGGGCATGTTTGA 0.532000 OREG0019074 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 15 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123855883 123855883 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:123855883C>G ENST00000274008.4 + 5 1206 c.1137C>G c.(1135-1137)ttC>ttG p.F379L SPATA5_ENST00000422835.2_3'UTR NM_145207.2 NP_660208.2 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 CTGAGCTTTTCAAGAGTTATG 0.338000 25 47 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88748104 88748104 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:88748104G>A ENST00000332281.5 - 2 181 c.95C>T c.(94-96)tCt>tTt p.S32F SNAI3-AS1_ENST00000563261.1_RNA NM_178310.3 NP_840101.1 Q3KNW1 SNAI3_HUMAN snail family zinc finger 3 32 oxidation-reduction process copper ion binding|DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) CCCACAGGCAGAGCAGGCACC 0.607000 9 2 0 0 1 0 0 HTR1B 3351 broad.mit.edu 37 6 78173057 78173057 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:78173057G>C ENST00000369947.2 - 1 433 c.64C>G c.(64-66)Caa>Gaa p.Q22E NM_000863.1 NP_000854.1 P28222 5HT1B_HUMAN 5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled 22 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) AAGTTGGCTTGAGGAACCCAG 0.617000 48 28 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8790658 8790658 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:8790658G>A ENST00000405863.1 + 3 986 c.75G>A c.(73-75)acG>acA p.T25T NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 25 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CCAATTTAACGAACGGTGGAA 0.423000 17 43 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990589 990589 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:990589C>G ENST00000190165.2 + 2 1041 c.1003C>G c.(1003-1005)Cga>Gga p.R335G NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 335 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) ATCAGCCTTTCGAGTCCCAGA 0.577000 14 36 0 0 1 0 0 BFSP1 631 broad.mit.edu 37 20 17475660 17475660 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:17475660G>C ENST00000377873.3 - 8 1096 c.1057C>G c.(1057-1059)Ctg>Gtg p.L353V BFSP1_ENST00000377868.2_Missense_Mutation_p.L228V|BFSP1_ENST00000544874.1_Missense_Mutation_p.L214V|BFSP1_ENST00000536626.1_Missense_Mutation_p.L214V NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 353 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 ATATCCTGCAGAGCTCTGGTA 0.403000 17 68 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133526617 133526617 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:133526617C>G ENST00000466490.2 + 4 562 c.277C>G c.(277-279)Cag>Gag p.Q93E NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 93 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 TAGAGACACTCAGACGTCCAT 0.358000 20 39 0 0 1 0 0 LENG8 114823 broad.mit.edu 37 19 54967183 54967183 + Missense_Mutation SNP A A C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:54967183A>C ENST00000326764.5 + 9 1542 c.1063A>C c.(1063-1065)Aag>Cag p.K355Q LENG8_ENST00000376514.2_Intron NM_052925.2 NP_443157.1 Q96PV6 LENG8_HUMAN leukocyte receptor cluster (LRC) member 8 318 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) CCCTAAGAAGAAGCGGTGGGA 0.706000 9 10 0 0 1 0 0 ACTL8 81569 broad.mit.edu 37 1 18149829 18149829 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:18149829C>T ENST00000375406.1 + 2 542 c.326C>T c.(325-327)gCg>gTg p.A109V NM_030812.2 NP_110439.2 Q9H568 ACTL8_HUMAN actin-like 8 109 cytoplasm|cytoskeleton NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) AGGGAGCCTGCGGACCGAAAG 0.602000 15 18 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70482147 70482147 + Splice_Site SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:70482147G>T ENST00000310961.5 + 15 1569 c.e15-1 LRRC7_ENST00000035383.5_Splice_Site|LRRC7_ENST00000415775.2_Splice_Site|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TGTTTTTGCAGATTGAAGAAT 0.299000 8 28 5.4927e-09 5.74291e-09 1 1 0 OR10G7 390265 broad.mit.edu 37 11 123909459 123909459 + Missense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:123909459C>A ENST00000330487.5 - 1 258 c.250G>T c.(250-252)Gtg>Ttg p.V84L NM_001004463.1 NP_001004463.1 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, member 7 84 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 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) CTTGGGGACACCAAGGTCATC 0.527000 26 85 2.44723e-14 2.63296e-14 1 1 0 TMEM201 199953 broad.mit.edu 37 1 9661427 9661427 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:9661427G>T ENST00000340305.5 + 5 880 c.871G>T c.(871-873)Gcc>Tcc p.A291S TMEM201_ENST00000340381.6_Missense_Mutation_p.A291S|TMEM201_ENST00000377376.4_Missense_Mutation_p.A291S NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 291 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) TGAGGCCTGGGCCTTTGGGCA 0.677000 17 48 5.35267e-07 5.52459e-07 1 1 0 LURAP1L 286343 broad.mit.edu 37 9 12821739 12821739 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:12821739G>A ENST00000319264.3 + 2 1362 c.667G>A c.(667-669)Gaa>Aaa p.E223K NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 226 ATTGGATTCTGAATACTACTG 0.453000 61 44 0 0 1 0 0 GPSM1 26086 broad.mit.edu 37 9 139250961 139250961 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:139250961G>A ENST00000440944.1 + 13 2000 c.1780G>A c.(1780-1782)Gag>Aag p.E594K GPSM1_ENST00000429455.1_Missense_Mutation_p.E85K|GPSM1_ENST00000392944.1_Missense_Mutation_p.E85K NM_001145638.1 NP_001139110 Q86YR5 GPSM1_HUMAN G-protein signaling modulator 1 594 cell differentiation|nervous system development|signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane binding|GTPase activator activity biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1) 9 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06) CGAGCCCCAGGAGCCGGGGGA 0.706000 10 2 0 0 1 0 0 UFSP1 402682 broad.mit.edu 37 7 100486857 100486857 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr7:100486857C>T ENST00000388761.2 - 1 482 c.36G>A c.(34-36)cgG>cgA p.R12R NM_001015072.3 NP_001015072.2 Q6NVU6 UFSP1_HUMAN UFM1-specific peptidase 1 (non-functional) 12 lung(1)|stomach(1) 2 Lung NSC(181;0.041)|all_lung(186;0.0581) CGATCCAGTCCCGGGAGCCCC 0.751000 11 4 0 0 1 0 0 ATRN 8455 broad.mit.edu 37 20 3553402 3553402 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:3553402C>T ENST00000262919.5 + 12 1964 c.1896C>T c.(1894-1896)ttC>ttT p.F632F ATRN_ENST00000446916.2_Silent_p.F632F NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 632 inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 TCGGTGGTTTCAATAGTCTCC 0.433000 34 31 0 0 1 0 0 KDSR 2531 broad.mit.edu 37 18 61030029 61030029 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:61030029G>C ENST00000406396.3 - 2 572 c.181C>G c.(181-183)Ctg>Gtg p.L61V KDSR_ENST00000326575.5_Missense_Mutation_p.L61V NM_002035.2 NP_002026.1 Q06136 KDSR_HUMAN 3-ketodihydrosphingosine reductase 61 3-keto-sphinganine metabolic process endoplasmic reticulum membrane|extracellular space|integral to membrane 3-dehydrosphinganine reductase activity|binding endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 9 CGTGCAACCAGAGTTATAAAA 0.383000 7 56 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201982373 201982373 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:201982373G>C ENST00000359651.3 + 6 3944 c.752G>C c.(751-753)cGa>cCa p.R251P RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.R251P|ELF3_ENST00000367283.3_Missense_Mutation_p.R251P P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 251 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GGCCGGCCCCGAAAGCTGAGC 0.642000 8 52 0 0 1 0 0 CEP97 79598 broad.mit.edu 37 3 101477264 101477264 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:101477264G>A ENST00000341893.3 + 9 2566 c.1814G>A c.(1813-1815)aGg>aAg p.R605K CEP97_ENST00000327230.4_Missense_Mutation_p.R605K|CEP97_ENST00000494050.1_Missense_Mutation_p.R546K Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 605 CEP110 binding. centrosome|nucleus protein binding cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 GATGAAATAAGGAGGTGGGTC 0.418000 3 37 0 0 1 0 0 PVALB 5816 broad.mit.edu 37 22 37196942 37196942 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:37196942C>T ENST00000216200.5 - 5 380 c.325G>A c.(325-327)Gaa>Aaa p.E109K PVALB_ENST00000417718.2_Missense_Mutation_p.E109K|PVALB_ENST00000404171.1_Missense_Mutation_p.E77K NM_002854.2 NP_002845.1 P20472 PRVA_HUMAN parvalbumin 109 EF-hand 2. calcium ion binding large_intestine(1)|lung(1)|skin(1) 3 TCTTAGCTTTCAGCCACCAGA 0.562000 16 7 0 0 1 0 0 PER2 8864 broad.mit.edu 37 2 239169492 239169492 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:239169492C>T ENST00000254657.3 - 13 1798 c.1519G>A c.(1519-1521)Gag>Aag p.E507K PER2_ENST00000254658.3_3'UTR NM_022817.2 NP_073728.1 O15055 PER2_HUMAN period circadian clock 2 507 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) CGTGAGTCCTCATGGCCGTTG 0.582000 46 125 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42819584 42819584 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:42819584G>A ENST00000598766.1 + 8 710 c.710G>A c.(709-711)gGa>gAa p.G237E TMEM145_ENST00000301204.3_Missense_Mutation_p.G213E Q8NBT3 TM145_HUMAN transmembrane protein 145 213 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GCCGCAGCAggagtagagggt 0.532000 21 36 0 0 1 0 0 SLC8A3 6547 broad.mit.edu 37 14 70517820 70517820 + Missense_Mutation SNP G G A rs145472014 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:70517820G>A ENST00000381269.2 - 6 2789 c.2036C>T c.(2035-2037)aCg>aTg p.T679M SLC8A3_ENST00000216568.7_Missense_Mutation_p.T50M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.T677M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.T676M|SLC8A3_ENST00000394330.2_Missense_Mutation_p.T36M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.T36M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.T677M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.T673M NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 679 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TTTGTCCACCGTAGTCTGTTA 0.493000 10 25 0 0 1 0 0 LRAT 9227 broad.mit.edu 37 4 155665532 155665532 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:155665532C>G ENST00000336356.3 + 2 307 c.54C>G c.(52-54)ctC>ctG p.L18L LRAT_ENST00000507827.1_Silent_p.L18L NM_004744.3 NP_004735.2 O95237 LRAT_HUMAN lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 18 response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9) 16 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) AGCTGCTCCTCATCTCCAACT 0.577000 29 17 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28612237 28612237 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:28612237G>A ENST00000434452.1 - 2 229 c.75C>T c.(73-75)ttC>ttT p.F25F DSC3_ENST00000360428.4_Silent_p.F25F NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 25 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CAGCACGACTGAAGATCTAGA 0.313000 7 31 0 0 1 0 0 ZNF609 23060 broad.mit.edu 37 15 64792156 64792156 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr15:64792156G>A ENST00000326648.3 + 1 666 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZNF609_ENST00000416172.1_Missense_Mutation_p.E180K NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 180 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GACTTGTTCAGAAAAGGATCC 0.557000 8 14 0 0 1 0 0 ADAR 103 broad.mit.edu 37 1 154600395 154600395 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:154600395C>T ENST00000292205.5 - 1 79 c.80G>A c.(79-81)gGa>gAa p.G27E ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR NM_001025107.2|NM_001193495.1 NP_001020278.1|NP_001180424.1 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 0 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCGCGACCCTCCCCCCACCCT 0.652000 42 6 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348356 89348356 + Nonsense_Mutation SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:89348356C>A ENST00000301030.4 - 9 5054 c.4594G>T c.(4594-4596)Gag>Tag p.E1532* ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.E1532* NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1532 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTGAATTTCTCCTTCAGTTTG 0.582000 36 12 3.21399e-22 3.5128e-22 1 1 0 HIVEP3 59269 broad.mit.edu 37 1 42048659 42048659 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:42048659C>G ENST00000372584.1 - 3 2824 c.1810G>C c.(1810-1812)Gag>Cag p.E604Q HIVEP3_ENST00000247584.5_Missense_Mutation_p.E604Q|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E604Q|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E604Q NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 604 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding 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) CCAGGCTCCTCAGAACTGTAT 0.562000 24 47 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227413 35227413 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:35227413C>T ENST00000339480.1 + 2 928 c.558C>T c.(556-558)ttC>ttT p.F186F RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 186 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) AGAAGGTCTTCACCTACTTCA 0.577000 7 20 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3820936 3820936 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:3820936G>A ENST00000262367.5 - 14 3324 c.2515C>T c.(2515-2517)Cag>Tag p.Q839* CREBBP_ENST00000382070.3_Nonsense_Mutation_p.Q801* NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 839 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.G837fs*10(1)|p.Q839*(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGGCTGGCCTGAGGCCCCAGC 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 41 23 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27305827 27305827 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:27305827G>A ENST00000380320.4 + 4 1887 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q NM_007046.3 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 463 cell adhesion collagen 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) CTGGGGGGGCGGTTGGATCTG 0.701000 4 17 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58156227 58156227 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:58156227C>T ENST00000184956.6 - 1 65 c.49G>A c.(49-51)Gag>Aag p.E17K HEATR6_ENST00000585976.1_Missense_Mutation_p.E17K|HEATR6_ENST00000585712.1_5'UTR NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 17 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CGCGGTGCCTCCCGCGGCTGC 0.662000 3 18 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 9 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317432 30317432 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:30317432C>G ENST00000375377.1 - 3 1746 c.1645G>C c.(1645-1647)Gag>Cag p.E549Q NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 549 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CAGGTGCTCTCGCCCTGTGAG 0.502000 36 51 0 0 1 0 0 ZNF610 162963 broad.mit.edu 37 19 52869647 52869647 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:52869647C>T ENST00000601151.1 + 5 1339 c.887C>T c.(886-888)aCg>aTg p.T296M ZNF610_ENST00000403906.3_Missense_Mutation_p.T339M|ZNF610_ENST00000327920.8_Missense_Mutation_p.T339M|ZNF610_ENST00000321287.8_Missense_Mutation_p.T339M NM_001161427.1 NP_001154899.1 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2) 34 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AGAAGTCACACGGCGGAAAAA 0.398000 32 35 0 0 1 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497389 39497389 + Missense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:39497389G>A ENST00000442487.3 + 3 425 c.298G>A c.(298-300)Gac>Aac p.D100N APOBEC3H_ENST00000401756.1_Missense_Mutation_p.D100N|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.D100N|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.D100N NM_181773.3 NP_861438.2 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 100 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) CAAGGCTCACGACCATCTGAA 0.612000 11 18 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2818160 2818160 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:2818160C>T ENST00000301740.8 + 11 8180 c.7631C>T c.(7630-7632)tCt>tTt p.S2544F SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2544 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 agctcctcctcttcttcatca 0.607000 19 7 0 0 1 0 0 NRG1 3084 broad.mit.edu 37 8 32463200 32463200 + Splice_Site SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr8:32463200C>A ENST00000341377.5 + 3 916 c.399C>A c.(397-399)aaC>aaA p.N133K NRG1_ENST00000520407.1_Splice_Site_p.N348K|NRG1_ENST00000356819.4_Splice_Site_p.N133K|NRG1_ENST00000519301.1_Splice_Site_p.N112K|NRG1_ENST00000338921.4_Splice_Site_p.N133K|NRG1_ENST00000405005.3_Splice_Site_p.N133K|NRG1_ENST00000287845.5_Splice_Site_p.N133K|NRG1_ENST00000521670.1_Splice_Site_p.N133K|NRG1_ENST00000287842.3_Splice_Site_p.N133K|NRG1_ENST00000523079.1_Splice_Site_p.N133K NM_013964.3 NP_039258.1 Q02297 NRG1_HUMAN neuregulin 1 133 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity p.N133N(2)|p.N348N(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGGAATCAAACGGTAAGAGAT 0.393000 25 58 4.87955e-14 5.22654e-14 1 1 0 HAPLN4 404037 broad.mit.edu 37 19 19371875 19371875 + Silent SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:19371875G>A ENST00000291481.7 - 3 294 c.231C>T c.(229-231)caC>caT p.H77H AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 77 Ig-like C2-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) CGTCGTGACCGTGGGCGGCTG 0.667000 18 24 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145158826 145158826 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:145158826C>G ENST00000558170.2 - 7 2040 c.856G>C c.(856-858)Gag>Cag p.E286Q ZEB2_ENST00000303660.4_Missense_Mutation_p.E286Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.E286Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.E262Q NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 286 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGCCACACTCTGTGCATTTG 0.438000 20 54 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8383276 8383276 + Silent SNP T T C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:8383276T>C ENST00000356406.5 - 14 1673 c.1596A>G c.(1594-1596)aaA>aaG p.K532K ACOX3_ENST00000503233.1_Silent_p.K532K|ACOX3_ENST00000413009.2_Silent_p.K532K NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 532 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 CTTGGTTTAATTTTTGATAAG 0.393000 22 70 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572201 53572201 + Missense_Mutation SNP G G T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:53572201G>T ENST00000601421.1 - 3 2354 c.1478C>A c.(1477-1479)gCa>gAa p.A493E ZNF160_ENST00000418871.1_Missense_Mutation_p.A529E|ZNF160_ENST00000599056.1_Missense_Mutation_p.A529E|ZNF160_ENST00000429604.1_Missense_Mutation_p.A529E Q9HCG1 ZN160_HUMAN zinc finger protein 160 529 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AGAATGGATTGCCTGATGGGT 0.418000 18 65 2.39187e-15 2.58494e-15 1 1 0 CDK5RAP1 51654 broad.mit.edu 37 20 31948220 31948220 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr20:31948220C>T ENST00000357886.4 - 14 1815 c.1662G>A c.(1660-1662)atG>atA p.M554I CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.M463I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.M450I|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.M540I|CDK5RAP1_ENST00000544843.1_3'UTR Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 554 CDK5R1-binding.|TRAM. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TGACATCCTCCATCTCTGCAT 0.522000 9 26 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57109759 57109759 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:57109759C>G ENST00000454682.1 - 3 5836 c.5555G>C c.(5554-5556)gGa>gCa p.G1852A NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.G699A|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GAAAGGCACTCCCCCAGAGAT 0.572000 T BCL6 NHL 10 33 0 0 1 0 0 CASP7 840 broad.mit.edu 37 10 115480908 115480908 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:115480908G>C ENST00000369321.2 + 4 647 c.327G>C c.(325-327)aaG>aaC p.K109N CASP7_ENST00000369318.3_Missense_Mutation_p.K76N|CASP7_ENST00000468790.1_3'UTR|CASP7_ENST00000369315.1_Missense_Mutation_p.K76N|CASP7_ENST00000369331.4_Missense_Mutation_p.K76N|CASP7_ENST00000345633.4_Missense_Mutation_p.K76N|CASP7_ENST00000452490.2_Missense_Mutation_p.K51N NM_033338.5 NP_203124.1 P55210 CASP7_HUMAN caspase 7, apoptosis-related cysteine peptidase 76 activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm cysteine-type endopeptidase activity|protein binding kidney(1)|large_intestine(1)|lung(5)|ovary(1) 8 Colorectal(252;0.0946)|Breast(234;0.188) Epithelial(162;0.012)|all cancers(201;0.014) TAAACAACAAGAACTTTGATA 0.438000 37 44 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859643 46859643 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:46859643C>T ENST00000262738.3 - 2 4143 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1382 EGF-like 2; calcium-binding. 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 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) TAGCCGCCCTCGCGGCTGCGG 0.687000 3 1 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr16:56782202C>T ENST00000569842.1 + 2 139 c.43C>T c.(43-45)Cag>Tag p.Q15* NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15* Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.Q15*(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 30 18 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38357134 38357134 + Missense_Mutation SNP G G C rs116100457 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:38357134G>C ENST00000273173.4 + 8 1555 c.1464G>C c.(1462-1464)gaG>gaC p.E488D SLC22A14_ENST00000448498.1_Missense_Mutation_p.E488D NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 488 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TGCTCAGAGAGTTCAGCCTGG 0.612000 4 87 0 0 1 0 0 FIBCD1 84929 broad.mit.edu 37 9 133779412 133779412 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr9:133779412C>T ENST00000253018.4 - 6 1238 c.520G>A c.(520-522)Gcc>Acc p.A174T FIBCD1_ENST00000448616.1_3'UTR|FIBCD1_ENST00000372338.4_3'UTR|FIBCD1_ENST00000372337.2_3'UTR Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 44 signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1) 12 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GGGGATGGGGCGACAGGGACC 0.637000 3 4 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56482862 56482862 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr6:56482862C>T ENST00000370765.6 - 23 6077 c.5970G>A c.(5968-5970)ctG>ctA p.L1990L DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1389 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TAGAATTGTTCAGGGCTTGGT 0.413000 25 53 0 0 1 0 0 CACNG4 27092 broad.mit.edu 37 17 65026656 65026656 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:65026656G>C ENST00000262138.3 + 4 522 c.520G>C c.(520-522)Gac>Cac p.D174H NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 174 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 activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GCGGGACGAAGACAAAAAGAA 0.502000 35 51 0 0 1 0 0 TGIF1 7050 broad.mit.edu 37 18 3457714 3457714 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr18:3457714G>C ENST00000472042.1 + 2 1519 c.535G>C c.(535-537)Gat>Cat p.D179H TGIF1_ENST00000405385.3_Missense_Mutation_p.D179H|TGIF1_ENST00000551541.1_Missense_Mutation_p.D179H|TGIF1_ENST00000407501.2_Missense_Mutation_p.D199H|TGIF1_ENST00000548489.2_Missense_Mutation_p.D213H|TGIF1_ENST00000343820.5_Missense_Mutation_p.D199H|TGIF1_ENST00000345133.5_Missense_Mutation_p.D179H|TGIF1_ENST00000400167.2_Missense_Mutation_p.D179H|TGIF1_ENST00000401449.1_Missense_Mutation_p.D179H|TGIF1_ENST00000330513.5_Missense_Mutation_p.D328H Q15583 TGIF1_HUMAN TGFB-induced factor homeobox 1 328 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Esophageal squamous(4;0.0859) Colorectal(8;0.0104) ACAAAACACAGATATACAGCA 0.478000 33 31 0 0 1 0 0 TRIM6 117854 broad.mit.edu 37 11 5626756 5626756 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:5626756C>T ENST00000380097.3 + 4 1035 c.793C>T c.(793-795)Ctg>Ttg p.L265L AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000445329.1_Silent_p.L62L|TRIM6_ENST00000380107.1_Silent_p.L211L|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L265L|TRIM6_ENST00000278302.5_Silent_p.L237L|TRIM6_ENST00000506134.1_Silent_p.L62L|TRIM6_ENST00000507320.1_Silent_p.L62L|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Silent_p.L62L NM_001003818.2|NM_001198644.1|NM_001198645.1 NP_001003818.1|NP_001185573.1|NP_001185574.1 tripartite motif containing 6 breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1) 22 Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212) Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192) CATCTCGGATCTGGAGCGTCG 0.507000 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 19 0 0 1 0 0 DEGS2 123099 broad.mit.edu 37 14 100615443 100615443 + Silent SNP G G A rs145891510 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr14:100615443G>A ENST00000305631.5 - 2 1262 c.687C>T c.(685-687)ttC>ttT p.F229F DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron NM_206918.2 NP_996801.2 Q6QHC5 DEGS2_HUMAN delta(4)-desaturase, sphingolipid 2 229 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane sphingosine hydroxylase activity p.F229F(2) breast(1)|lung(6)|skin(1) 8 Melanoma(154;0.212) GCTCGGCCACGAAGTGGCCCG 0.622000 30 34 0 0 1 0 0 ZNF264 9422 broad.mit.edu 37 19 57716785 57716785 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:57716785G>C ENST00000263095.6 + 3 595 c.181G>C c.(181-183)Gag>Cag p.E61Q ZNF264_ENST00000536056.1_Missense_Mutation_p.E61Q NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 61 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TCCCAAAGCTGAGCTGATCTG 0.512000 10 9 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96506724 96506724 + Silent SNP C C A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:96506724C>A ENST00000376747.3 - 35 4084 c.4014G>T c.(4012-4014)gtG>gtT p.V1338V NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1338 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 GATCATGTCTCACAATCTAAA 0.343000 4 20 0.00024832 0.000251979 1 1 0 DHDDS 79947 broad.mit.edu 37 1 26795418 26795418 + Missense_Mutation SNP G G C TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:26795418G>C ENST00000360009.2 + 9 878 c.801G>C c.(799-801)aaG>aaC p.K267N DHDDS_ENST00000236342.7_Missense_Mutation_p.K266N|DHDDS_ENST00000526219.1_Missense_Mutation_p.K227N|DHDDS_ENST00000525682.2_Missense_Mutation_p.K232N NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 266 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) AGGAGCGGAAGAGGCAGCAGC 0.597000 4 22 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72699197 72699197 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr17:72699197C>T ENST00000469092.1 - 4 708 c.432G>A c.(430-432)ctG>ctA p.L144L CD300LF_ENST00000464910.1_Silent_p.L144L|CD300LF_ENST00000326165.6_Silent_p.L141L|CD300LF_ENST00000301573.9_Silent_p.L141L|CD300LF_ENST00000581500.1_Silent_p.L159L|CD300LF_ENST00000583937.1_Silent_p.L156L|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000361254.4_Silent_p.L159L|CD300LF_ENST00000343125.4_Silent_p.L144L Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 141 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GGTGGCCGGTCAGAGTTGGGG 0.542000 20 33 0 0 1 0 0 ZNF142 7701 broad.mit.edu 37 2 219506999 219506999 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:219506999C>T ENST00000411696.2 - 7 5019 c.4240G>A c.(4240-4242)Gat>Aat p.D1414N ZNF142_ENST00000449707.1_Missense_Mutation_p.D1414N P52746 ZN142_HUMAN zinc finger protein 142 1414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CCATCCCCATCTGAGGCTGCC 0.602000 29 48 0 0 1 0 0 CCDC38 120935 broad.mit.edu 37 12 96271997 96271997 + Missense_Mutation SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr12:96271997C>T ENST00000344280.3 - 13 1827 c.1270G>A c.(1270-1272)Gat>Aat p.D424N SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron NM_182496.2 NP_872302.2 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 424 breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACCTGAGCATCTGAATTAAAT 0.348000 9 25 0 0 1 0 0 SERPINH1 871 broad.mit.edu 37 11 75280054 75280054 + Silent SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr11:75280054C>G ENST00000524558.1 + 4 2227 c.792C>G c.(790-792)ctC>ctG p.L264L SERPINH1_ENST00000358171.3_Silent_p.L264L|SERPINH1_ENST00000525876.1_Silent_p.L47L|SERPINH1_ENST00000530284.1_Silent_p.L264L|SERPINH1_ENST00000533603.1_Silent_p.L264L P50454 SERPH_HUMAN serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) 264 regulation of proteolysis|response to unfolded protein endoplasmic reticulum lumen|ER-Golgi intermediate compartment collagen binding|serine-type endopeptidase inhibitor activity endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1) 15 Ovarian(111;0.11) CCCACAAGCTCTCCAGCCTCA 0.562000 24 25 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108127249 108127249 + Missense_Mutation SNP C C G TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr3:108127249C>G ENST00000273353.3 - 33 4614 c.4558G>C c.(4558-4560)Gag>Cag p.E1520Q NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1520 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 TTAGAAATCTCTTCTGGAGAC 0.413000 21 29 0 0 1 0 0 TEKT2 27285 broad.mit.edu 37 1 36551484 36551484 + Frame_Shift_Del DEL G G - TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:36551484delG ENST00000207457.3 + 4 457 c.330delG c.(328-330)ctgfs p.L110fs NM_014466.2 NP_055281.2 Q9UIF3 TEKT2_HUMAN tektin 2 (testicular) 110 cell projection organization|microtubule cytoskeleton organization actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ACCTGCCTCTGGATGTGGCCA 0.577 18 14 --- --- --- --- ALDH9A1 223 broad.mit.edu 37 1 165649804 165649805 + In_Frame_Ins INS - - CCCTCA TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr1:165649804_165649805insCCCTCA ENST00000354775.4 - 5 1012_1013 c.708_709insTGAGGG c.(706-711)ggggct>gggTGAGGGgct p.235_236insG* ALDH9A1_ENST00000538148.1_In_Frame_Ins_p.141_142insG*|ALDH9A1_ENST00000461664.1_5'UTR NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 211 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) CCTGTGGCAGCCCCTCCCTGCA 0.520 32 84 --- --- --- --- SOS1 6654 broad.mit.edu 37 2 39222399 39222399 + Frame_Shift_Del DEL T T - TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:39222399delT ENST00000426016.1 - 21 3297 c.3211delA c.(3211-3213)agtfs p.S1071fs SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1071fs|SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1071fs Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 1071 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TCTGTTTCACTTTCAGGGATC 0.488 Noonan syndrome 25 104 --- --- --- --- PARD3B 117583 broad.mit.edu 37 2 206480199 206480199 + Frame_Shift_Del DEL G G - TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr2:206480199delG ENST00000406610.2 + 23 3487 c.3280delG c.(3280-3282)gtafs p.V1094fs PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Frame_Shift_Del_p.V1025fs|PARD3B_ENST00000349953.3_Frame_Shift_Del_p.V993fs|PARD3B_ENST00000358768.2_Frame_Shift_Del_p.V1032fs 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 1094 cell cycle|cell division endomembrane system|tight junction 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) CGCAGATCCTGTAGACTATCT 0.567 54 43 --- --- --- --- SEC24B 10427 broad.mit.edu 37 4 110384059 110384059 + Frame_Shift_Del DEL C C - TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr4:110384059delC ENST00000265175.5 + 2 191 c.136delC c.(136-138)ccafs p.P46fs SEC24B_ENST00000399100.2_Frame_Shift_Del_p.P46fs|SEC24B_ENST00000504968.2_Frame_Shift_Del_p.P77fs NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 46 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTTTTCAGGTCCAGCCCAGAA 0.353 15 41 --- --- --- --- ELOVL7 79993 broad.mit.edu 37 5 60060150 60060151 + Frame_Shift_Ins INS - - A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr5:60060150_60060151insA ENST00000505959.1 - 9 889_890 c.363_364insT c.(361-366)tttgttfs p.V122fs ELOVL7_ENST00000438340.1_Frame_Shift_Ins_p.V135fs|ELOVL7_ENST00000508821.1_Frame_Shift_Ins_p.V135fs|ELOVL7_ENST00000425382.1_Frame_Shift_Ins_p.V135fs A1L3X0 ELOV7_HUMAN ELOVL fatty acid elongase 7 135 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 9 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) TTGCGCAGAACAAAAAAGATCT 0.342 8 30 --- --- --- --- HK1 3098 broad.mit.edu 37 10 71142268 71142269 + Frame_Shift_Ins INS - - TT TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr10:71142268_71142269insTT ENST00000448642.2 + 15 1785_1786 c.1396_1397insTT c.(1396-1398)ctafs p.L466fs HK1_ENST00000359426.6_Frame_Shift_Ins_p.L431fs|HK1_ENST00000298649.3_Frame_Shift_Ins_p.L430fs|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Frame_Shift_Ins_p.L419fs|HK1_ENST00000404387.2_Frame_Shift_Ins_p.L435fs P19367 HXK1_HUMAN hexokinase 1 431 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2) 35 CCACAAGACTCTAAGGCGCTTG 0.614 22 21 --- --- --- --- XPO4 64328 broad.mit.edu 37 13 21383360 21383369 + Splice_Site DEL GCAGTCTATT GCAGTCTATT - rs9552285 byFrequency TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:21383360_21383369delGCAGTCTATT ENST00000400602.2 - 11 1386_1390 c.1351_1355delAATAGACTGC c.(1351-1356)aataga>a p.NR451fs XPO4_ENST00000255305.6_Splice_Site_p.NR451fs NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 451 T -> A (in dbSNP:rs9552285). protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CACACCATTGGCAGTCTATTGCAAGTAAAA 0.433 10 39 --- --- --- --- PIBF1 10464 broad.mit.edu 37 13 73468075 73468076 + Frame_Shift_Ins INS - - A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr13:73468075_73468076insA ENST00000326291.6 + 11 1814_1815 c.1476_1477insA c.(1477-1479)aaafs p.K493fs NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 493 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AAAAATATCAGAAAAAATTGGA 0.332 25 48 --- --- --- --- ZNF559 84527 broad.mit.edu 37 19 9452027 9452028 + Frame_Shift_Del DEL CT CT - rs55837495 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr19:9452027_9452028delCT ENST00000592504.1 + 6 665_666 c.410_411delCT c.(409-411)actfs p.T137fs ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000446085.4_Intron Q9BR84 ZN559_HUMAN zinc finger protein 559 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1) 26 TTGACAAACACTCTAAACATCC 0.347 4 3 --- --- --- --- MED15 51586 broad.mit.edu 37 22 20920814 20920816 + In_Frame_Del DEL CAG CAG - rs71769813 TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0160cd38-2895-40ee-9de5-d4cf438f42b2 943e82ed-c873-453f-9090-18f68574552e g.chr22:20920814_20920816delCAG ENST00000263205.7 + 7 820_822 c.751_753delCAG c.(751-753)cagdel p.Q262del MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 262 Poly-Gln. Missing. Missing (in Ref. 3; BAB85034). regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.Q250_Q251insQ(4) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) acaacagcaacagcagcagcagc 0.591 8 51 --- --- --- ---