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 KCNA10 3744 broad.mit.edu 37 1 111059964 111059964 + Missense_Mutation SNP T T G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr1:111059964T>G ENST00000369771.2 - 1 1833 c.1446A>C c.(1444-1446)agA>agC p.R482S NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 482 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGTTGAGGATTCTTTCAATTT 0.463000 7 184 0 0 0.278610 0 0 CCT6P1 643253 broad.mit.edu 37 7 65226641 65226641 + RNA SNP G G T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr7:65226641G>T ENST00000442266.1 + 0 1167 AGGTTCTTGCGCAGAATTCTG 0.383000 3 50 0.115264 0.126564 0.115264 1 0 DSP 1832 broad.mit.edu 37 6 7570788 7570788 + Missense_Mutation SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr6:7570788A>G ENST00000379802.3 + 13 2034 c.1693A>G c.(1693-1695)Atc>Gtc p.I565V DSP_ENST00000418664.2_Missense_Mutation_p.I565V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 565 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGCCATGACAATCGCCAAGGT 0.557000 52 114 0 0 0.870114 0 0 NPRL3 8131 broad.mit.edu 37 16 139794 139794 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr16:139794G>A ENST00000399953.3 - 11 1670 c.1268C>T c.(1267-1269)cCg>cTg p.P423L NPRL3_ENST00000399951.3_Missense_Mutation_p.P244L|NPRL3_ENST00000405960.3_5'UTR NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 423 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 GTCCTCTCGCGGACGGGGCTC 0.667000 6 14 0 0 0.278610 0 0 PTPRD 5789 broad.mit.edu 37 9 8484279 8484279 + Silent SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr9:8484279G>A ENST00000381196.4 - 27 3796 c.3253C>T c.(3253-3255)Ctg>Ttg p.L1085L PTPRD_ENST00000540109.1_Silent_p.L1085L|PTPRD_ENST00000360074.4_Silent_p.L1072L|PTPRD_ENST00000358503.5_Silent_p.L1063L|PTPRD_ENST00000486161.1_Silent_p.L674L|PTPRD_ENST00000356435.5_Silent_p.L1085L|PTPRD_ENST00000355233.5_Silent_p.L674L|PTPRD_ENST00000397606.3_Silent_p.L664L|PTPRD_ENST00000397611.3_Silent_p.L671L|PTPRD_ENST00000397617.3_Silent_p.L664L|PTPRD_ENST00000537002.1_Silent_p.L671L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1085 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CGATTTGTCAGCACAAATGAA 0.468000 TSP Lung(15;0.13) 4 159 0 0 0.150653 0 0 CD9 928 broad.mit.edu 37 12 6334633 6334633 + Silent SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr12:6334633A>G ENST00000382518.1 + 3 544 c.108A>G c.(106-108)cgA>cgG p.R36R CD9_ENST00000009180.4_Silent_p.R36R|CD9_ENST00000382515.2_5'UTR|CD9_ENST00000481267.1_3'UTR P21926 CD9_HUMAN CD9 molecule 36 cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation integral to plasma membrane|platelet alpha granule membrane endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 8 TATGGCTCCGATTCGACTCTC 0.488000 7 137 0 0 0.307466 0 0 ARAP2 116984 broad.mit.edu 37 4 36081903 36081903 + Splice_Site SNP T T C TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr4:36081903T>C ENST00000303965.4 - 31 5034 c.e31-2 NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 CACAGGTGCCTGCAAAACGAG 0.403000 3 96 0 0 0.115264 0 0 CACHD1 57685 broad.mit.edu 37 1 65095121 65095121 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr1:65095121G>A ENST00000371073.2 + 5 601 c.601G>A c.(601-603)Gca>Aca p.A201T CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.A150T Q5VU97 CAHD1_HUMAN cache domain containing 1 201 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TGTTTTCCCAGCACACAAGTT 0.403000 4 215 0 0 0.184627 0 0 RARS 5917 broad.mit.edu 37 5 167919717 167919717 + Silent SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr5:167919717C>T ENST00000231572.3 + 3 288 c.234C>T c.(232-234)agC>agT p.S78S RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 78 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) ACATTATTAGCCGCCTACAAG 0.408000 4 248 0 0 0.150653 0 0 GK5 256356 broad.mit.edu 37 3 141934478 141934478 + Nonsense_Mutation SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr3:141934478C>T ENST00000392993.2 - 2 355 c.204G>A c.(202-204)tgG>tgA p.W68* GK5_ENST00000544571.1_Nonsense_Mutation_p.W68*|GK5_ENST00000466685.3_5'UTR NM_001039547.2 NP_001034636.1 Q6ZS86 GLPK5_HUMAN glycerol kinase 5 (putative) 68 glycerol metabolic process ATP binding|glycerol kinase activity kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1) 10 CAAATTGAATCCAAAGAACAT 0.284000 5 78 0 0 0.184627 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 139 0 0 0.150653 0 0 CBLL1 79872 broad.mit.edu 37 7 107399418 107399418 + Missense_Mutation SNP A A T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr7:107399418A>T ENST00000440859.2 + 6 1738 c.1271A>T c.(1270-1272)tAt>tTt p.Y424F CBLL1_ENST00000222597.2_Missense_Mutation_p.Y423F NM_024814.2 NP_079090.2 Q75N03 HAKAI_HUMAN Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase 424 Pro-rich. cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3) 21 CCTCACCATTATAATCCTAAC 0.502000 19 189 0 0 0.557998 0 0 SULF2 55959 broad.mit.edu 37 20 46294036 46294036 + Splice_Site SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr20:46294036A>G ENST00000359930.4 - 14 2755 c.1902_splice c.e14-1 p.I635_splice SULF2_ENST00000467815.1_Splice_Site_p.I635_splice|SULF2_ENST00000361612.4_Splice_Site_p.I635_splice|SULF2_ENST00000484875.1_Splice_Site_p.I635_splice NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 635 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.I635T(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 CAGGGTTTCAATCTGAGGGAG 0.532000 4 262 0 0 0.150653 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457701 15457701 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr16:15457701G>A ENST00000360151.4 - 8 867 c.868C>T c.(868-870)Ctc>Ttc p.L290F NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 p.L290F(2) AGGGGAGTGAGCAGACACTCG 0.562000 3 90 0 0 0.217242 0 0 TLR4 7099 broad.mit.edu 37 9 120475351 120475351 + Silent SNP G G C TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr9:120475351G>C ENST00000355622.6 + 3 1046 c.945G>C c.(943-945)ctG>ctC p.L315L TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L275L NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 315 activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 CATTTTCCCTGGTGAGTGTGA 0.318000 57 161 0 0 0.870114 0 0 SF3B2 10992 broad.mit.edu 37 11 65820518 65820518 + Silent SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr11:65820518G>A ENST00000528302.1 + 3 255 c.201G>A c.(199-201)cgG>cgA p.R67R SF3B2_ENST00000322535.6_Silent_p.R67R Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 67 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TGCTGAATCGGCCGGTTTTGA 0.488000 5 289 0 0 0.248553 0 0 SLC22A17 51310 broad.mit.edu 37 14 23816939 23816939 + Splice_Site SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr14:23816939A>G ENST00000354772.3 - 8 1449 c.944_splice c.e8-1 p.F316_splice SLC22A17_ENST00000397267.1_Splice_Site_p.F316_splice|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397260.3_Splice_Site_p.F205_splice|SLC22A17_ENST00000206544.8_Splice_Site_p.F316_splice NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 316 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) TGGGCAATGAAGCTGTGAGAA 0.642000 3 97 0 0 0.150653 0 0 SPATA31D4 389761 broad.mit.edu 37 9 84547870 84547870 + RNA SNP T T C rs138226188 by1000genomes TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr9:84547870T>C ENST00000585776.1 - 0 1039 SPATA31D4_ENST00000341875.4_RNA CGTGAACCCATAGAAATCTTC 0.428000 3 45 0 0 0.115264 0 0 SLC36A1 206358 broad.mit.edu 37 5 150838431 150838431 + Silent SNP G G A rs142064945 TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr5:150838431G>A ENST00000243389.3 + 2 301 c.78G>A c.(76-78)tcG>tcA p.S26S SLC36A1_ENST00000521925.1_Silent_p.S26S|SLC36A1_ENST00000521351.1_3'UTR|SLC36A1_ENST00000429484.2_Silent_p.S26S|SLC36A1_ENST00000520701.1_Silent_p.S26S NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 26 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) AGAGCCCGTCGGAAGGCCTCA 0.602000 31 52 0 0 0.750413 0 0 KIF24 347240 broad.mit.edu 37 9 34259681 34259681 + Missense_Mutation SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr9:34259681C>T ENST00000379166.2 - 10 1657 c.1538G>A c.(1537-1539)gGc>gAc p.G513D KIF24_ENST00000345050.2_Missense_Mutation_p.G379D|KIF24_ENST00000379174.3_Missense_Mutation_p.G379D|KIF24_ENST00000402558.2_Missense_Mutation_p.G513D NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 513 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TTTGGCATTGCCGATGAAAGA 0.493000 6 232 0 0 0.248553 0 0 HERC2 8924 broad.mit.edu 37 15 28375699 28375699 + Silent SNP G G A rs61756151 byFrequency TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr15:28375699G>A ENST00000261609.7 - 82 12720 c.12612C>T c.(12610-12612)tgC>tgT p.C4204C NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4204 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) ACTGGGATCCGCATTCCACTT 0.418000 7 406 0 0 0.248553 0 0 NUDT12 83594 broad.mit.edu 37 5 102894748 102894748 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr5:102894748G>A ENST00000230792.2 - 3 724 c.628C>T c.(628-630)Ctt>Ttt p.L210F NUDT12_ENST00000507423.1_Missense_Mutation_p.L192F NM_031438.2 NP_113626.1 Q9BQG2 NUD12_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 12 210 nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1) 12 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) GCATAATTAAGTAGTTTGTCT 0.403000 20 201 0 0 0.557998 0 0 DNAH3 55567 broad.mit.edu 37 16 21108814 21108814 + Missense_Mutation SNP T T C TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr16:21108814T>C ENST00000261383.3 - 18 2526 c.2527A>G c.(2527-2529)Aat>Gat p.N843D DNAH3_ENST00000415178.1_Missense_Mutation_p.N843D NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 843 Stem (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) TCCTCCTTATTGATCAACTGC 0.478000 4 126 0 0 0.184627 0 0 KRT25 147183 broad.mit.edu 37 17 38907252 38907252 + Missense_Mutation SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr17:38907252C>T ENST00000312150.4 - 5 971 c.911G>A c.(910-912)cGc>cAc p.R304H NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 304 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGAAGAGTGCGCTTCATTTC 0.473000 4 174 0 0 0.150653 0 0 PACSIN3 29763 broad.mit.edu 37 11 47200712 47200712 + Missense_Mutation SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr11:47200712C>T ENST00000539589.1 - 8 1240 c.898G>A c.(898-900)Gag>Aag p.E300K PACSIN3_ENST00000298838.6_Missense_Mutation_p.E300K NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 300 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 ACACATGCCTCGAACTGTGGC 0.627000 80 207 0 0 0.870114 0 0 KIF14 9928 broad.mit.edu 37 1 200584483 200584483 + Splice_Site SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr1:200584483G>A ENST00000367350.4 - 3 1805 c.1367_splice c.e3+1 p.T456_splice NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 456 Kinesin-motor. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TACAACTTACGTATATGATTT 0.383000 4 205 0 0 0.184627 0 0 KIFC1 3833 broad.mit.edu 37 6 33374019 33374019 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr6:33374019G>A ENST00000428849.2 + 8 2033 c.1583G>A c.(1582-1584)cGc>cAc p.R528H NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 528 Kinesin-motor. blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GCTGTGGCCCGCACAGCCCAG 0.607000 4 122 0 0 0.150653 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 167 0 0 0.184627 0 0 WNK1 65125 broad.mit.edu 37 12 995245 995245 + Missense_Mutation SNP G G T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr12:995245G>T ENST00000537687.1 + 19 6698 c.6055G>T c.(6055-6057)Gct>Tct p.A2019S WNK1_ENST00000535572.1_Missense_Mutation_p.A1512S|WNK1_ENST00000530271.2_Missense_Mutation_p.A2257S|WNK1_ENST00000315939.6_Missense_Mutation_p.A1759S|WNK1_ENST00000340908.4_Missense_Mutation_p.A1352S NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1759 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TCTAACTAAGGCTCCGGTAAA 0.398000 29 88 6.00712e-18 7.15742e-18 0.760397 1 0 ATXN1 6310 broad.mit.edu 37 6 16328215 16328215 + Silent SNP C C T rs114230242 byFrequency TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr6:16328215C>T ENST00000244769.4 - 8 1263 c.327G>A c.(325-327)ccG>ccA p.P109P ATXN1_ENST00000436367.1_Silent_p.P109P NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 109 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) TCCCTGGCTGCGGGGTGGCGT 0.642000 28 58 0 0 0.750413 0 0 UQCRC1 7384 broad.mit.edu 37 3 48638261 48638261 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr3:48638261G>A ENST00000203407.5 - 9 1395 c.979C>T c.(979-981)Cca>Tca p.P327S NM_003365.2 NP_003356.2 P31930 QCR1_HUMAN ubiquinol-cytochrome c reductase core protein I 327 aerobic respiration|proteolysis metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) Atovaquone(DB01117) GAAGCCAGTGGGCTGGACAGG 0.597000 4 83 0 0 0.217242 0 0 OR2C3 81472 broad.mit.edu 37 1 247695757 247695757 + Silent SNP G G A rs61746303 byFrequency TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr1:247695757G>A ENST00000366487.3 - 2 418 c.57C>T c.(55-57)tcC>tcT p.S19S GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 19 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S19S(1)|p.S18S(1) breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGGGTCGTGTGGAGAAGCCCA 0.488000 7 116 0 0 0.335167 0 0 PEG3 5178 broad.mit.edu 37 19 57327002 57327002 + Silent SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr19:57327002A>G ENST00000326441.9 - 10 3171 c.2808T>C c.(2806-2808)cgT>cgC p.R936R ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.R936R|PEG3_ENST00000598410.1_Silent_p.R812R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.R810R NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 936 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TCTTTTTAGCACGAGCCTTCT 0.453000 70 232 0 0 0.870114 0 0 IGHV3-21 28444 broad.mit.edu 37 14 106691745 106691745 + RNA SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr14:106691745G>A ENST00000390607.2 - 0 357 AGTTCTTGGCGTTGTCTCTGG 0.512000 46 158 0 0 0.870114 0 0 LRP4 4038 broad.mit.edu 37 11 46924371 46924371 + Missense_Mutation SNP G G T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr11:46924371G>T ENST00000378623.1 - 2 404 c.162C>A c.(160-162)gaC>gaA p.D54E NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 54 LDL-receptor class A 1. endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) CGCAGTCATTGTCTCCATCAC 0.607000 21 58 2.89027e-11 3.37198e-11 0.624587 1 0 GPRASP1 9737 broad.mit.edu 37 X 101913005 101913005 + Silent SNP C C T TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chrX:101913005C>T ENST00000537097.1 + 6 4977 c.4164C>T c.(4162-4164)gaC>gaT p.D1388D GPRASP1_ENST00000444152.1_Silent_p.D1388D|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Silent_p.D1388D|GPRASP1_ENST00000415986.1_Silent_p.D1388D NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1388 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 ATCAAAATGACCCTGAAGGGG 0.368000 3 28 0 0 0.115264 0 0 FBXO43 286151 broad.mit.edu 37 8 101154158 101154158 + Silent SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr8:101154158A>G ENST00000428847.2 - 2 640 c.324T>C c.(322-324)ccT>ccC p.P108P NM_001029860.3 NP_001025031.2 Q4G163 FBX43_HUMAN F-box protein 43 108 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CTGAAGTTTCAGGGTGCTCAT 0.358000 3 209 0 0 0.115264 0 0 CCDC108 255101 broad.mit.edu 37 2 219892412 219892412 + Missense_Mutation SNP C C A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr2:219892412C>A ENST00000341552.5 - 13 2254 c.2171G>T c.(2170-2172)tGc>tTc p.C724F CCDC108_ENST00000453220.1_Missense_Mutation_p.C724F|CCDC108_ENST00000441968.1_Missense_Mutation_p.C724F|CCDC108_ENST00000409865.3_Missense_Mutation_p.C713F|CCDC108_ENST00000410037.1_Missense_Mutation_p.C659F NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 724 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) CGTGTAAAGGCAGTTGGGGTG 0.607000 11 124 3.27435e-08 3.74212e-08 0.457914 1 0 TM7SF3 51768 broad.mit.edu 37 12 27143451 27143451 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr12:27143451G>A ENST00000343028.4 - 6 1025 c.800C>T c.(799-801)gCt>gTt p.A267V TM7SF3_ENST00000542667.1_Intron NM_016551.2 NP_057635.1 Q9NS93 TM7S3_HUMAN transmembrane 7 superfamily member 3 267 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) AATGTAGGCAGCAGATGTATT 0.448000 4 162 0 0 0.184627 0 0 MLF1 4291 broad.mit.edu 37 3 158315963 158315963 + Missense_Mutation SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr3:158315963A>G ENST00000359117.5 + 4 535 c.299A>G c.(298-300)cAg>cGg p.Q100R MLF1_ENST00000355893.5_Missense_Mutation_p.Q125R|MLF1_ENST00000482628.1_Missense_Mutation_p.Q100R|MLF1_ENST00000478894.2_Missense_Mutation_p.Q115R|MLF1_ENST00000484955.1_Missense_Mutation_p.Q100R|MLF1_ENST00000392822.3_Missense_Mutation_p.Q156R|MLF1_ENST00000469452.1_Intron|MLF1_ENST00000471745.1_Missense_Mutation_p.Q115R|MLF1_ENST00000497004.1_3'UTR NM_001130156.2 NP_001123628.1 P58340 MLF1_HUMAN myeloid leukemia factor 1 125 Interaction with COPS3. cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein domain specific binding large_intestine(3) 3 Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299) Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256) AAGGTTTTTCAGGCCTCAACT 0.393000 T NPM1 AML 3 170 0 0 0.115264 0 0 SLC22A23 63027 broad.mit.edu 37 6 3324228 3324228 + Silent SNP G G A rs151139208 byFrequency TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr6:3324228G>A ENST00000436008.2 - 4 1384 c.922C>T c.(922-924)Ctg>Ttg p.L308L SLC22A23_ENST00000380302.4_Silent_p.L27L|SLC22A23_ENST00000490273.1_Silent_p.L27L|SLC22A23_ENST00000433689.2_5'UTR|SLC22A23_ENST00000380298.2_Silent_p.L308L|SLC22A23_ENST00000406686.3_Silent_p.L308L A1A5C7 S22AN_HUMAN solute carrier family 22, member 23 308 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) GGGGGGCACAGCTCTATTCCT 0.602000 13 34 0 0 0.435327 0 0 RRP1B 23076 broad.mit.edu 37 21 45096683 45096683 + Silent SNP T T C TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr21:45096683T>C ENST00000340648.4 + 8 801 c.684T>C c.(682-684)ccT>ccC p.P228P NM_015056.2 NP_055871.1 Q14684 RRP1B_HUMAN ribosomal RNA processing 1B 228 rRNA processing cytosol|nucleolus|preribosome, small subunit precursor protein binding p.P228P(1) cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1) 21 STAD - Stomach adenocarcinoma(101;0.178) CTTTTGTGCCTGAAGAGACGA 0.507000 3 119 0 0 0.115264 0 0 GUCY2F 2986 broad.mit.edu 37 X 108638655 108638655 + Missense_Mutation SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chrX:108638655G>A ENST00000218006.2 - 12 2630 c.2339C>T c.(2338-2340)gCc>gTc p.A780V NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 780 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 TTCTGGAGGGGCATGCTCAGG 0.458000 4 191 0 0 0.217242 0 0 BRD1 23774 broad.mit.edu 37 22 50217548 50217548 + Missense_Mutation SNP A A G TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr22:50217548A>G ENST00000216267.8 - 1 904 c.418T>C c.(418-420)Tac>Cac p.Y140H BRD1_ENST00000404034.1_Missense_Mutation_p.Y140H|BRD1_ENST00000457780.2_Missense_Mutation_p.Y140H|BRD1_ENST00000404760.1_Missense_Mutation_p.Y140H NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 140 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) ATGAACTTGTAGTACACAGGA 0.637000 3 135 0 0 0.150653 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424644 47424644 + Silent SNP G G A TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr19:47424644G>A ENST00000404338.3 + 1 2712 c.2712G>A c.(2710-2712)caG>caA p.Q904Q NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 904 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GTAGGGAACAGCTAACTGAGG 0.463000 52 127 0 0 0.870114 0 0 TFG 10342 broad.mit.edu 37 3 100432611 100432611 + Frame_Shift_Del DEL A A - TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr3:100432611delA ENST00000240851.4 + 2 422 c.82delA c.(82-84)atfs p.N28fs TFG_ENST00000490574.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000476228.1_Frame_Shift_Del_p.N28fs|TFG_ENST00000418917.2_Frame_Shift_Del_p.N28fs NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 28 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 TCCTATTCATAATGAAGATAT 0.373 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 71 163 --- --- --- --- LOC100505938 100505938 broad.mit.edu 37 7 8363958 8363959 + RNA INS - - AGAA rs141819780 by1000genomes TCGA-BP-4760-01A-02D-1421-08 TCGA-BP-4760-11A-01D-1421-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a1f1d02-342e-47f2-a6c7-21ca53464fb8 4a66fa20-29ff-4b27-b2a9-5a2a6e6c6956 g.chr7:8363958_8363959insAGAA ENST00000424460.1 + 0 493 RP4-594A5.1_ENST00000435967.1_lincRNA aagaaagaaagagaaagaaaga 0.406 8 8 --- --- --- ---