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 MIR543 0 broad.mit.edu 37 14 101498368 101498368 + RNA SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr14:101498368C>T ENST00000390751.1 + 0 45 NR_030619.1 TTATTTGTGACGAAACATTCG 0.502000 8 120 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16003198 16003198 + Missense_Mutation SNP C C T rs140630977 TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr19:16003198C>T ENST00000221700.5 - 5 541 c.446G>A c.(445-447)cGg>cAg p.R149Q CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R149Q NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 149 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.R149Q(2) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CGTCAGCATCCGACGGTGGCG 0.567000 27 131 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24357720 24357720 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:24357720C>T ENST00000378454.3 - 1 560 c.259G>A c.(259-261)Gtg>Atg p.V87M KAAG1_ENST00000274766.1_5'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 87 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration p.V87M(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CCTCCAGCCACGTAATTGCCC 0.587000 40 105 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67412278 67412278 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:67412278G>A ENST00000255082.3 - 7 867 c.697C>T c.(697-699)Cgc>Tgc p.R233C ACY3_ENST00000529256.1_Missense_Mutation_p.R112C NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 233 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding p.R233C(1) endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) GCCTCGGTGCGGGGGAAGTCC 0.632000 4 7 0 0 1 0 0 AATK 9625 broad.mit.edu 37 17 79094618 79094618 + Missense_Mutation SNP T T C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr17:79094618T>C ENST00000326724.4 - 11 3142 c.3118A>G c.(3118-3120)Agg>Ggg p.R1040G AATK_ENST00000417379.1_Missense_Mutation_p.R937G NM_001080395.2 NP_001073864.2 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 1040 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R1040G(2) endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1) 21 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) ACCCCAGGCCTGAGACAGACC 0.716000 2 11 0 0 1 0 0 NEUROD6 63974 broad.mit.edu 37 7 31377922 31377922 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:31377922G>A ENST00000297142.3 - 2 1283 c.961C>T c.(961-963)Cgc>Tgc p.R321C NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 321 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.R321C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 GATTGGCTGCGCAGATGTAAG 0.478000 10 145 0 0 1 0 0 ZNF24 7572 broad.mit.edu 37 18 32917272 32917272 + Missense_Mutation SNP T T C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr18:32917272T>C ENST00000261332.6 - 4 1210 c.1031A>G c.(1030-1032)tAt>tGt p.Y344C ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C|ZNF24_ENST00000589881.1_3'UTR NM_006965.2 NP_008896.2 P17028 ZNF24_HUMAN zinc finger protein 24 344 myelination|negative regulation of transcription, DNA-dependent|viral reproduction nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Y344C(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 15 GCTTTGACTATACGATTTCCC 0.358000 21 169 0 0 1 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111795794 111795794 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:111795794C>T ENST00000452346.2 + 16 2030 c.2027C>T c.(2026-2028)cCg>cTg p.P676L TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 676 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity p.P405L(1)|p.P550L(1) breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TTTGTCTCCCCGGTGAGAAGA 0.453000 121 215 0 0 1 0 0 PIP5K1C 23396 broad.mit.edu 37 19 3661952 3661952 + Nonsense_Mutation SNP G G T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr19:3661952G>T ENST00000335312.3 - 4 355 c.267C>A c.(265-267)taC>taA p.Y89* PIP5K1C_ENST00000587482.1_5'UTR|PIP5K1C_ENST00000539785.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000537021.1_Nonsense_Mutation_p.Y89*|PIP5K1C_ENST00000589578.1_Nonsense_Mutation_p.Y89* NM_001195733.1|NM_012398.2 NP_001182662.1|NP_036530.1 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, gamma 89 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding p.Y89*(1) large_intestine(3)|ovary(1)|skin(3)|stomach(2) 9 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCCACGGTGTAGCCGATGC 0.682000 5 15 0.000602214 0.000656961 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 80 0 0 1 0 0 PCDHGC4 0 broad.mit.edu 37 5 140865886 140865886 + Silent SNP C C T rs148184642 byFrequency TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr5:140865886C>T ENST00000306593.1 + 1 1146 c.1146C>T c.(1144-1146)aaC>aaT p.N382N PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 p.N382N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGGTCAAACGGAGATGTGA 0.562000 6 98 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145530284 145530284 + Missense_Mutation SNP G G T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:145530284G>T ENST00000369304.3 + 6 674 c.499G>T c.(499-501)Gat>Tat p.D167Y ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 167 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity p.D167Y(2) NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AACATACATGGATGTTGTCAT 0.498000 7 205 0.00448238 0.00480255 1 1 0 CATSPER1 117144 broad.mit.edu 37 11 65793239 65793239 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:65793239G>A ENST00000312106.5 - 1 749 c.612C>T c.(610-612)caC>caT p.H204H NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 204 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding p.H204H(1) breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 GGGACTCATCGTGTTGGAGCC 0.617000 5 137 0 0 1 0 0 SOD3 6649 broad.mit.edu 37 4 24801303 24801303 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr4:24801303G>A ENST00000382120.3 + 2 365 c.160G>A c.(160-162)Gac>Aac p.D54N NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 54 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding p.D54N(1) prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) GCAGCGGCGGGACGACGACGG 0.716000 14 8 0 0 1 0 0 GBP7 388646 broad.mit.edu 37 1 89630482 89630482 + Missense_Mutation SNP G G A rs146946502 TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:89630482G>A ENST00000294671.2 - 3 388 c.250C>T c.(250-252)Ccc>Tcc p.P84S NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 84 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) GAGGGGTGGGGCACACACCAC 0.498000 4 90 0 0 1 0 0 AMOT 154796 broad.mit.edu 37 X 112058796 112058796 + Silent SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chrX:112058796C>T ENST00000371959.3 - 2 1181 c.1182G>A c.(1180-1182)caG>caA p.Q394Q AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 394 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity p.Q394Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 gctgctgctgctgttgttggt 0.582000 3 29 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554551 152554551 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:152554551C>T ENST00000305097.3 + 1 1816 c.980C>T c.(979-981)gCg>gTg p.A327V NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 327 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.A327V(1) breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TATTTCTTGGCGGGAGATACT 0.463000 5 129 0 0 1 0 0 SLC35G6 643664 broad.mit.edu 37 17 7385391 7385391 + Missense_Mutation SNP T T C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr17:7385391T>C ENST00000412468.2 + 2 203 c.88T>C c.(88-90)Tgc>Cgc p.C30R ZBTB4_ENST00000311403.4_Intron NM_001102614.1 NP_001096084.1 P0C7Q6 AMCL3_HUMAN solute carrier family 35, member G6 30 integral to membrane CTGGCACCAGTGCTGCCAGCC 0.657000 3 100 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147128521 147128521 + Missense_Mutation SNP C C A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:147128521C>A ENST00000282928.4 + 1 1351 c.622C>A c.(622-624)Cac>Aac p.H208N NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 208 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H208N(1) central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 GGCCGCGCATCACGGCGCCGG 0.642000 15 64 6.31663e-08 7.28842e-08 1 1 0 IL21R 50615 broad.mit.edu 37 16 27455956 27455956 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr16:27455956C>T ENST00000337929.3 + 6 1074 c.601C>T c.(601-603)Cgg>Tgg p.R201W IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W NM_181078.2 NP_851564.1 Q9HBE5 IL21R_HUMAN interleukin 21 receptor 201 Fibronectin type-III. natural killer cell activation integral to membrane interleukin-21 receptor activity p.R201W(1) breast(2)|large_intestine(3)|lung(1)|ovary(2) 8 GCTGCAGGTGCGGGCAGGGCC 0.597000 T BCL6 NHL 8 239 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329453 88329453 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr13:88329453C>T ENST00000325089.6 + 2 2029 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 604 LRRCT 2. integral to membrane p.R604C(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACCGACATGCGCTCCATTAA 0.567000 21 208 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942667 144942667 + Missense_Mutation SNP C C A rs111431754 TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr8:144942667C>A ENST00000525985.1 - 2 4826 c.4755G>T c.(4753-4755)atG>atT p.M1585I P58107 EPIPL_HUMAN epiplakin 1 1585 cytoplasm|cytoskeleton protein binding|structural molecule activity p.M1585I(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTGGGATGCTCATCCTCTCCT 0.647000 33 26 1.30897e-18 1.53997e-18 1 1 0 TTN 7273 broad.mit.edu 37 2 179426189 179426189 + Missense_Mutation SNP T T G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr2:179426189T>G ENST00000589042.1 - 326 84894 c.84670A>C c.(84670-84672)Atg>Ctg p.M28224L TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.M19284L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26583 Ig-like 131. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(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) TACTCATACATCAGTCCTTCA 0.398000 74 149 0 0 1 0 0 FUT8 2530 broad.mit.edu 37 14 66208993 66208993 + Silent SNP G G C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr14:66208993G>C ENST00000360689.5 + 11 3320 c.1593G>C c.(1591-1593)gtG>gtC p.V531V FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000358307.2_Silent_p.V402V NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 531 SH3. in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding p.V531V(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TCATTGGTGTGGCTGGAAATC 0.463000 20 181 0 0 1 0 0 TMEM243 79161 broad.mit.edu 37 7 86848787 86848787 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:86848787G>A ENST00000433078.1 - 2 474 c.33C>T c.(31-33)acC>acT p.T11T TMEM243_ENST00000423734.1_Silent_p.T11T|TMEM243_ENST00000257637.3_Silent_p.T11T transmembrane protein 243, mitochondrial p.T11T(1) CCAGGCCACTGGTGCCGTAGG 0.572000 16 68 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22035727 22035727 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr12:22035727G>A ENST00000261200.4 - 14 1991 c.1992C>T c.(1990-1992)ccC>ccT p.P664P ABCC9_ENST00000345162.2_Intron|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.P664P NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 664 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.P664P(3)|p.A665fs*57(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGTTTCTGCGGGACGTAGAC 0.383000 56 232 0 0 1 0 0 NBEAP1 0 broad.mit.edu 37 15 20874901 20874901 + RNA SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr15:20874901G>A ENST00000556948.1 - 0 347 TTCTGCATATGGTGGTGTAGA 0.333000 3 67 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101834316 101834316 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr5:101834316G>A ENST00000506729.1 - 1 404 c.233C>T c.(232-234)cCg>cTg p.P78L SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 78 KPG -> NRE (in Ref. 1; AAP33048). integral to membrane|plasma membrane transporter activity p.P78L(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) CACTTCTCCCGGCTTCTTGGA 0.488000 55 242 0 0 1 0 0 KLHL4 0 broad.mit.edu 37 X 86888856 86888856 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chrX:86888856G>A ENST00000373119.4 + 8 1802 c.1657G>A c.(1657-1659)Gta>Ata p.V553I KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 553 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.V553I(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GTGGAATTACGTAGCCAGTAT 0.433000 5 41 0 0 1 0 0 CABP4 57010 broad.mit.edu 37 11 67223061 67223061 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:67223061G>A ENST00000325656.5 + 1 244 c.167G>A c.(166-168)gGc>gAc p.G56D CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron NM_145200.3 NP_660201.1 P57796 CABP4_HUMAN calcium binding protein 4 56 visual perception cytoplasm|extracellular region|terminal button calcium ion binding p.G56D(1) central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AAGCGCACTGGCAGCTCTGGG 0.687000 13 9 0 0 1 0 0 SGSH 6448 broad.mit.edu 37 17 78187975 78187975 + Missense_Mutation SNP A A G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr17:78187975A>G ENST00000326317.6 - 5 745 c.659T>C c.(658-660)gTg>gCg p.V220A SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000572208.1_5'UTR NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 220 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity p.V220A(1) central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) TCCTACCAGCACGTCCAGTGG 0.637000 11 21 0 0 1 0 0 LRRC16A 55604 broad.mit.edu 37 6 25472740 25472740 + Nonsense_Mutation SNP G G T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:25472740G>T ENST00000329474.6 + 11 1233 c.865G>T c.(865-867)Gag>Tag p.E289* LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128* NM_001173977.1|NM_017640.5 NP_001167448.1|NP_060110.4 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 289 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus p.E289*(1) breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 50 CAACCCACTGGAGGATAGAGG 0.423000 2 1 1 1 1 1 0 FBXL4 26235 broad.mit.edu 37 6 99323344 99323344 + Missense_Mutation SNP T T G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:99323344T>G ENST00000369244.2 - 9 2077 c.1649A>C c.(1648-1650)gAc>gCc p.D550A FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 550 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex p.D550A(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 18 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) TTCATCAATGTCTGTGTCACA 0.413000 46 121 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33377450 33377450 + Nonsense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr6:33377450C>T ENST00000428849.2 + 11 2455 c.2005C>T c.(2005-2007)Cag>Tag p.Q669* NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 669 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 p.Q669*(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 TGGTACTGCTCAGGCCAACAG 0.483000 39 259 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818329 77818329 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr4:77818329G>A ENST00000334306.2 - 1 673 c.674C>T c.(673-675)cCg>cTg p.P225L NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 225 Ala-rich. p.P225L(1) AGCCCGTGCCGGCTTCTCCTC 0.706000 4 9 0 0 1 0 0 KIF18A 81930 broad.mit.edu 37 11 28058051 28058051 + Silent SNP A A G TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:28058051A>G ENST00000263181.6 - 14 2399 c.2109T>C c.(2107-2109)atT>atC p.I703I NM_031217.3 NP_112494.3 Q8NI77 KI18A_HUMAN kinesin family member 18A 703 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding p.I703I(1) breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 GTGTATATACAATAGGCTGAA 0.383000 48 191 0 0 1 0 0 AKAP8L 26993 broad.mit.edu 37 19 15512380 15512380 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr19:15512380C>T ENST00000397410.4 - 5 461 c.397G>A c.(397-399)Gtc>Atc p.V133I AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.V72I NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 133 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding p.V133I(2) central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 TCACTCAGGACGGCCCTCGAG 0.592000 5 23 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52366398 52366398 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:52366398G>A ENST00000420323.2 + 8 1535 c.1274G>A c.(1273-1275)cGc>cAc p.R425H NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 425 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R425H(2) cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CCTCGGATGCGCAAAGGCCCC 0.582000 5 98 0 0 1 0 0 XIST 0 broad.mit.edu 37 X 73061256 73061256 + RNA SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chrX:73061256C>T ENST00000429829.1 - 0 11332 NR_001564.2 TACAGCTGTCCGAGGAGCTAG 0.393000 26 21 0 0 1 0 0 DOK2 9046 broad.mit.edu 37 8 21768190 21768190 + Silent SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr8:21768190C>T ENST00000276420.4 - 4 870 c.612G>A c.(610-612)cgG>cgA p.R204R DOK2_ENST00000544659.1_Silent_p.R50R NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 204 IRS-type PTB. blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding p.R204R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) TCACCTTGTCCCGCCCAAAGC 0.632000 15 23 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47361170 47361170 + Missense_Mutation SNP C C T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr3:47361170C>T ENST00000232766.5 + 2 177 c.157C>T c.(157-159)Cgg>Tgg p.R53W KLHL18_ENST00000455924.2_Intron NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 53 p.R53W(1) endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CAGTGCCCACCGGATTGTCTT 0.418000 60 170 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33573723 33573723 + Missense_Mutation SNP T T C TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:33573723T>C ENST00000242067.6 + 21 2977 c.2456T>C c.(2455-2457)tTa>tCa p.L819S BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 819 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding p.L819S(2) BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TGCGATAGATTATCCAAAGGT 0.493000 Bardet-Biedl syndrome 45 86 0 0 1 0 0 TRPC6 7225 broad.mit.edu 37 11 101374961 101374961 + Missense_Mutation SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr11:101374961G>A ENST00000344327.3 - 2 1163 c.739C>T c.(739-741)Cgg>Tgg p.R247W TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W|TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 247 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.R247W(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) TCATGAGGCCGTTCAATCCTA 0.478000 79 180 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 115005788 115005788 + Silent SNP G G A TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:115005788G>A ENST00000358465.2 - 4 944 c.861C>T c.(859-861)ttC>ttT p.F287F TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Silent_p.F287F NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 287 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding p.F287F(2) breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATGTTTCACAGAAAAGTTTCA 0.353000 T RET papillary thyroid 5 74 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157104016 157104017 + Frame_Shift_Ins INS - - T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr1:157104016_157104017insT ENST00000368192.4 - 4 351_352 c.287_288insA c.(286-288)ttafs p.L96fs ETV3_ENST00000326786.4_Frame_Shift_Ins_p.L96fs NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 96 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) TGTTGTAATAGTATCTGTAAAA 0.371 46 39 --- --- --- --- DHFR 1719 broad.mit.edu 37 5 79945228 79945232 + Frame_Shift_Del DEL TAAAT TAAAT - TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr5:79945228_79945232delTAAAT ENST00000439211.2 - 3 711_715 c.218_222delATTTA c.(217-222)afs p.NL73fs DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000513048.1_5'UTR|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs NM_000791.3 NP_000782.1 P00374 DYR_HUMAN dihydrofolate reductase 73 DHFR. folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process cytosol dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding kidney(1)|large_intestine(1) 2 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35) Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157) TGCTGAGAACTAAATTAATTCTACC 0.332 23 74 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72662349 72662350 + RNA DEL AA AA - TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr7:72662349_72662350delAA ENST00000425256.1 - 0 1007 NR_002164.1 ctctgtctccaaaaaaaaaaaa 0.475 4 9 --- --- --- --- RP11-587H10.2 0 broad.mit.edu 37 8 93591561 93591562 + RNA INS - - TTTC rs34835405 TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr8:93591561_93591562insTTTC ENST00000523284.1 - 0 395 ctttctttctttttctttcttt 0.312 3 5 --- --- --- --- NOL8 55035 broad.mit.edu 37 9 95069196 95069199 + Frame_Shift_Del DEL TGTT TGTT - TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr9:95069196_95069199delTGTT ENST00000545558.1 - 11 3286_3289 c.2794_2797delAACA c.(2794-2799)gafs p.NR932fs NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs Q76FK4 NOL8_HUMAN nucleolar protein 8 932 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 ACTGATCCTCTGTTTGTAGAATTG 0.338 7 281 --- --- --- --- NLRP1 22861 broad.mit.edu 37 17 5462267 5462268 + Frame_Shift_Ins INS - - T TCGA-CH-5751-01A-11D-1576-08 TCGA-CH-5751-10A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx 072e5acd-3329-42b8-9aec-d6166ac61e35 0e96e352-8a8f-4960-ad33-d64018480ff1 g.chr17:5462267_5462268insT ENST00000345221.3 - 4 2302_2303 c.1748_1749insA c.(1747-1749)aacfs p.N583fs NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000572272.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.N583fs NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 583 NACHT. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TGAAAAGGGTCTTTTTTTGCCA 0.535 7 101 --- --- --- ---