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 GGA3 23163 broad.mit.edu 37 17 73239164 73239164 + Missense_Mutation SNP C C A rs35542883 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:73239164C>A ENST00000245541.6 - 6 724 c.508G>T c.(508-510)Gat>Tat p.D170Y GGA3_ENST00000538886.1_Missense_Mutation_p.D48Y|GGA3_ENST00000537686.1_Intron|GGA3_ENST00000351904.7_Missense_Mutation_p.D137Y|GGA3_ENST00000582486.1_Missense_Mutation_p.D98Y|GGA3_ENST00000578348.1_Missense_Mutation_p.D48Y|GGA3_ENST00000582717.1_Missense_Mutation_p.D98Y NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 170 Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) TCCTCATCATCAAAAACAGGG 0.547000 5 284 1 1 1 1 0 SLC13A5 284111 broad.mit.edu 37 17 6606290 6606290 + Splice_Site SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:6606290C>T ENST00000433363.2 - 5 948 c.716_splice c.e5+1 p.E239_splice SLC13A5_ENST00000293800.6_Splice_Site_p.E222_splice|SLC13A5_ENST00000381074.4_Splice_Site_p.E196_splice|SLC13A5_ENST00000573648.1_Splice_Site_p.E239_splice NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 239 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 AGGACTCACTCGTTCATCTGG 0.647000 22 95 0 0 1 0 0 C6orf58 352999 broad.mit.edu 37 6 127911331 127911331 + Silent SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:127911331A>G ENST00000329722.7 + 5 786 c.774A>G c.(772-774)agA>agG p.R258R NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 258 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) CCTTGATTAGATCATATAAGT 0.408000 68 145 0 0 1 0 0 OR4A5 81318 broad.mit.edu 37 11 51411725 51411725 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:51411725G>A ENST00000319760.6 - 1 723 c.671C>T c.(670-672)aCt>aTt p.T224I NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CTGACTGTAAGTTTTAAGGGA 0.413000 13 102 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21598482 21598482 + Missense_Mutation SNP A A T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:21598482A>T ENST00000328843.6 + 3 589 c.558A>T c.(556-558)caA>caT p.Q186H DNAH11_ENST00000409508.3_Missense_Mutation_p.Q186H Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 186 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 TTACTTCACAAGATATGGAAT 0.333000 Kartagener syndrome 4 26 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:62752443G>C ENST00000331425.6 - 0 992 NR_003952.1 CTTATGTCTAGTAAGGTTTGA 0.438000 4 52 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 63 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 21991022 21991022 + Silent SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr12:21991022G>T ENST00000261200.4 - 28 3555 c.3556C>A c.(3556-3558)Cgg>Agg p.R1186R RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Silent_p.R1186R|ABCC9_ENST00000345162.2_Silent_p.R1150R NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1186 ABC transmembrane type-1 2. 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 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) CTAAAGGCCCGAATGGTGGTG 0.418000 3 62 1 1 1 1 0 SLC22A25 387601 broad.mit.edu 37 11 62997044 62997044 + Missense_Mutation SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:62997044G>C ENST00000306494.6 - 1 80 c.81C>G c.(79-81)ttC>ttG p.F27L SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 27 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CTATGACGTTGAACATTATAA 0.463000 5 123 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91642836 91642836 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:91642836C>G ENST00000373094.1 + 5 4092 c.3247C>G c.(3247-3249)Cat>Gat p.H1083D PCDH11X_ENST00000298274.8_Missense_Mutation_p.H1046D|PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000406881.1_Missense_Mutation_p.H1083D|PCDH11X_ENST00000373097.1_Missense_Mutation_p.H1073D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.H1073D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.H1046D NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1083 homophilic cell adhesion integral to plasma membrane calcium ion binding p.H1083Y(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAGCACATCTCATGGCCTGCC 0.552000 38 134 0 0 1 0 0 WWP2 11060 broad.mit.edu 37 16 69922039 69922039 + Silent SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:69922039C>A ENST00000359154.2 + 8 902 c.801C>A c.(799-801)ccC>ccA p.P267P WWP2_ENST00000356003.2_Silent_p.P267P|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.P267P|WWP2_ENST00000542271.1_Silent_p.P151P|WWP2_ENST00000569174.1_Silent_p.P267P NM_001270454.1|NM_007014.4 NP_001257383.1|NP_008945.2 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 2 267 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CCCCGAATCCCAACACGACTT 0.617000 20 78 4.35082e-09 4.77381e-09 1 1 0 ILF3 3609 broad.mit.edu 37 19 10793296 10793296 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:10793296G>A ENST00000449870.1 + 13 1781 c.1464G>A c.(1462-1464)gcG>gcA p.A488A ILF3_ENST00000250241.8_Silent_p.A488A|ILF3_ENST00000588657.1_Silent_p.A488A|ILF3_ENST00000592763.1_Silent_p.A488A|ILF3_ENST00000589998.1_Silent_p.A488A|ILF3_ENST00000590261.1_Silent_p.A488A|ILF3_ENST00000318511.3_Silent_p.A488A|ILF3_ENST00000420083.1_Silent_p.A488A|ILF3_ENST00000407004.3_Silent_p.A488A NM_017620.2 NP_060090.2 Q12906 ILF3_HUMAN interleukin enhancer binding factor 3, 90kDa 488 M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleolus|ribonucleoprotein complex DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(33;6.86e-06)|all cancers(31;1.65e-05) AGACCGAGGCGAAGCCAGCAG 0.642000 6 51 0 0 1 0 0 PNPLA6 10908 broad.mit.edu 37 19 7605584 7605584 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:7605584G>A ENST00000221249.6 + 9 1097 c.666G>A c.(664-666)ctG>ctA p.L222L PNPLA6_ENST00000414982.3_Silent_p.L270L|PNPLA6_ENST00000450331.3_Silent_p.L222L|PNPLA6_ENST00000600737.1_Silent_p.L261L|PNPLA6_ENST00000545201.2_Silent_p.L222L NM_006702.4 NP_006693.3 Q8IY17 PLPL6_HUMAN patatin-like phospholipase domain containing 6 261 cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 35 TCAGCATCCTGGATGTCATCA 0.587000 5 127 0 0 1 0 0 IQCG 84223 broad.mit.edu 37 3 197665623 197665623 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:197665623G>A ENST00000265239.6 - 5 735 c.311C>T c.(310-312)aCg>aTg p.T104M IQCG_ENST00000455191.1_Missense_Mutation_p.T104M|IQCG_ENST00000453254.1_Missense_Mutation_p.T104M|IQCG_ENST00000480302.1_5'UTR NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 104 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GTCTAGATTCGTTCCTTCTAG 0.358000 32 1085 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30032800 30032800 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:30032800G>A ENST00000328224.6 - 2 2659 c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 476 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCCAGTTCCCGCATGCTGGCT 0.522000 8 79 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43708124 43708124 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr21:43708124C>G ENST00000398437.1 + 10 1685 c.1537C>G c.(1537-1539)Ctt>Gtt p.L513V ABCG1_ENST00000398457.2_Missense_Mutation_p.L369V|ABCG1_ENST00000347800.2_Missense_Mutation_p.L364V|ABCG1_ENST00000343687.3_Missense_Mutation_p.L378V|ABCG1_ENST00000398449.3_Missense_Mutation_p.L367V|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000361802.2_Missense_Mutation_p.L367V|ABCG1_ENST00000340588.4_Missense_Mutation_p.L475V P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 367 ABC transmembrane type-2. amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) GAACCCTTTTCTTTGGCACCG 0.567000 17 238 0 0 1 0 0 ZGPAT 84619 broad.mit.edu 37 20 62340307 62340307 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:62340307C>T ENST00000328969.5 + 2 502 c.375C>T c.(373-375)gaC>gaT p.D125D ZGPAT_ENST00000490623.1_3'UTR|ZGPAT_ENST00000448100.1_Silent_p.D125D|ZGPAT_ENST00000369967.3_Silent_p.D125D|ZGPAT_ENST00000355969.6_Silent_p.D125D|ZGPAT_ENST00000357119.4_Silent_p.D125D NM_032527.4 NP_115916.3 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 125 Poly-Glu. negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 14 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) agggagaggacgaggaagagC 0.637000 5 70 0 0 1 0 0 WDR44 54521 broad.mit.edu 37 X 117532358 117532358 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:117532358C>T ENST00000254029.3 + 8 1594 c.1199C>T c.(1198-1200)gCg>gTg p.A400V WDR44_ENST00000371822.5_Missense_Mutation_p.A375V|WDR44_ENST00000371825.3_Missense_Mutation_p.A400V NM_019045.4 NP_061918.3 Q5JSH3 WDR44_HUMAN WD repeat domain 44 400 cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 33 AGTAATGACGCGGCACAGTCA 0.358000 36 95 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732580 152732580 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:152732580C>T ENST00000368773.1 + 2 574 c.516C>T c.(514-516)tgC>tgT p.C172C KPRP_ENST00000606109.1_Silent_p.C172C NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 172 Gln-rich. cytoplasm p.C172C(1) NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCAGTGTGCCAGCCTCAGG 0.522000 4 137 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318580 43318580 + Silent SNP T T A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:43318580T>A ENST00000374518.4 + 20 3210 c.3147T>A c.(3145-3147)tcT>tcA p.S1049S NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1049 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTTTAATTCTGCCTTGGAAG 0.403000 4 165 0 0 1 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98740378 98740378 + Missense_Mutation SNP C C G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr9:98740378C>G ENST00000407474.3 + 2 829 c.316C>G c.(316-318)Cag>Gag p.Q106E Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding TCACTCAAACCAGAATGTAAT 0.388000 20 67 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31602803 31602803 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr14:31602803C>T ENST00000399332.1 - 23 4145 c.3657G>A c.(3655-3657)ggG>ggA p.G1219G HECTD1_ENST00000553700.1_Silent_p.G1219G NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1219 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TGGCATTTTTCCCCATCTGTT 0.403000 27 101 0 0 1 0 0 VPS4A 27183 broad.mit.edu 37 16 69349972 69349972 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:69349972C>T ENST00000254950.11 + 2 239 c.83C>T c.(82-84)gCg>gTg p.A28V VPS4A_ENST00000569775.1_3'UTR|RP11-343C2.3_ENST00000570054.2_Missense_Mutation_p.A52V NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 28 Interaction with CHMP1B.|MIT. cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) TACGAGGAGGCGCTGCGGCTG 0.577000 4 115 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52639289 52639289 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr12:52639289G>A ENST00000331817.5 + 7 1261 c.1078G>A c.(1078-1080)Gcc>Acc p.A360T KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 360 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GCTGGAAGCCGCCCTGCAGCG 0.652000 5 54 0 0 1 0 0 CCT6P1 643253 broad.mit.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:65222986G>T ENST00000442266.1 + 0 578 GAATTCTGGCGTTTTTTACAA 0.289000 3 24 2.56e-06 2.77041e-06 1 1 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342186 60342186 + RNA SNP T T C rs79096325 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:60342186T>C ENST00000581291.1 - 0 1967 breast(2)|kidney(1)|lung(2) 5 GCTGGGGGTGTTGGGAGGGGC 0.498000 3 15 0 0 1 0 0 MMP13 4322 broad.mit.edu 37 11 102822797 102822797 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:102822797C>T ENST00000260302.3 - 5 771 c.743G>A c.(742-744)gGc>gAc p.G248D MMP13_ENST00000340273.4_Missense_Mutation_p.G248D NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 248 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding p.G248D(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTGGCTTTTGCCGGTGTAGGT 0.448000 5 292 0 0 1 0 0 SC5D 6309 broad.mit.edu 37 11 121178029 121178029 + Silent SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:121178029T>C ENST00000264027.4 + 5 1082 c.708T>C c.(706-708)ttT>ttC p.F236F SC5D_ENST00000534230.1_Intron|SC5D_ENST00000392789.2_Silent_p.F236F NM_006918.4 NP_008849.2 sterol-C5-desaturase ATATGTTCTTTGACTATAATT 0.413000 10 191 0 0 1 0 0 QTRT1 81890 broad.mit.edu 37 19 10823854 10823854 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:10823854C>T ENST00000250237.5 + 10 1130 c.1120C>T c.(1120-1122)Cgg>Tgg p.R374W NM_031209.2 NP_112486.1 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 374 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) GGACTTCGTGCGGGACTTCAT 0.657000 20 97 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345055 33345055 + Missense_Mutation SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:33345055T>C ENST00000374796.2 - 8 4066 c.1496A>G c.(1495-1497)cAg>cGg p.Q499R NCOA6_ENST00000359003.2_Missense_Mutation_p.Q499R Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 499 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 CTGTGGCCCCTGGTTTGGTGG 0.488000 6 273 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195395 78195395 + Missense_Mutation SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:78195395G>T ENST00000361193.3 + 3 316 c.36G>T c.(34-36)agG>agT p.R12S SLC26A11_ENST00000411502.3_Missense_Mutation_p.R12S|SLC26A11_ENST00000571602.1_3'UTR|SLC26A11_ENST00000572725.1_Missense_Mutation_p.R12S|SLC26A11_ENST00000546047.2_Missense_Mutation_p.R12S NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 12 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GTCAGGCCAGGTCCTCTGGCC 0.687000 7 19 0.00621372 0.00663356 1 1 0 FZD1 8321 broad.mit.edu 37 7 90895605 90895605 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr7:90895605C>T ENST00000287934.2 + 1 1823 c.1410C>T c.(1408-1410)ggC>ggT p.G470G NM_003505.1 NP_003496.1 Q9UP38 FZD1_HUMAN frizzled family receptor 1 470 autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) AGGTGGACGGCGATGTGCTGA 0.622000 5 209 0 0 1 0 0 PTPRE 5791 broad.mit.edu 37 10 129877950 129877950 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:129877950G>A ENST00000254667.3 + 20 2298 c.2019G>A c.(2017-2019)gtG>gtA p.V673V PTPRE_ENST00000306042.5_Silent_p.V615V|PTPRE_ENST00000419012.2_Silent_p.V673V NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 673 Tyrosine-protein phosphatase 2. negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CACATATGGTGCAAACCCTGG 0.383000 27 100 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10207138 10207138 + Missense_Mutation SNP G G A rs147329205 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:10207138G>A ENST00000377157.3 + 18 2907 c.1846G>A c.(1846-1848)Gca>Aca p.A616T UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T|UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 861 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding p.A732T(1)|p.A861T(1) NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCTGGACCCCGCATATCCCGA 0.493000 4 208 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1250512 1250512 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:1250512C>T ENST00000348261.5 + 7 1308 c.1060C>T c.(1060-1062)Ccc>Tcc p.P354S CACNA1H_ENST00000565831.1_Missense_Mutation_p.P354S|CACNA1H_ENST00000358590.4_Missense_Mutation_p.P354S NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 354 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) TGACTCCAACCCCCACAACGG 0.652000 3 67 0 0 1 0 0 DLX3 1747 broad.mit.edu 37 17 48070809 48070809 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:48070809G>A ENST00000434704.2 - 2 696 c.471C>T c.(469-471)ccC>ccT p.P157P DLX3_ENST00000512495.2_Silent_p.P37P NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 157 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 CGGCGCGCTCGGGCAGCGCCA 0.706000 7 22 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72691006 72691006 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr15:72691006G>A ENST00000341689.3 + 2 148 c.94G>A c.(94-96)Gcc>Acc p.A32T TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 32 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TACCGTCCCTGCCAAGAAACA 0.532000 17 65 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7584875 7584875 + Silent SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:7584875C>A ENST00000379802.3 + 24 7721 c.7380C>A c.(7378-7380)acC>acA p.T2460T DSP_ENST00000418664.2_Silent_p.T1861T NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2460 Globular 2. 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) AAAAGAATACCCTCAGGAAGC 0.418000 4 188 1 1 1 1 0 CHST6 4166 broad.mit.edu 37 16 75512887 75512887 + Silent SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:75512887C>T ENST00000332272.4 - 3 1019 c.840G>A c.(838-840)ccG>ccA p.P280P CHST6_ENST00000390664.2_Silent_p.P280P|RP11-77K12.4_ENST00000530512.3_RNA NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 280 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TTTCTGCCAGCGGCTCCCGCG 0.662000 15 49 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8825333 8825333 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr18:8825333G>A ENST00000359865.3 + 15 3967 c.3825G>A c.(3823-3825)gaG>gaA p.E1275E SOGA2_ENST00000306329.11_Silent_p.E1594E|SOGA2_ENST00000400050.3_Silent_p.E1234E|SOGA2_ENST00000517570.1_Silent_p.E1234E|SOGA2_ENST00000306285.7_Silent_p.E600E|SOGA2_ENST00000518815.1_Silent_p.E600E NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1585 ACAGCCTGGAGATGTCCAAGA 0.617000 20 51 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58385748 58385748 + Missense_Mutation SNP G G A rs145250945 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:58385748G>A ENST00000435989.2 - 3 1244 c.1010C>T c.(1009-1011)gCt>gTt p.A337V ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron NM_001144989.1 NP_001138461.1 B7Z6K7 ZN814_HUMAN zinc finger protein 814 337 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.A337V(2) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 ACTGAAGCTAGCATATTTGCT 0.353000 3 11 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49494659 49494659 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:49494659G>A ENST00000323798.3 - 2 396 c.200C>T c.(199-201)cCg>cTg p.P67L GYS1_ENST00000540532.1_Intron|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Missense_Mutation_p.P67L NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 67 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTCCGTGTACGGCCCCACCAG 0.637000 6 291 0 0 1 0 0 TAF1 6872 broad.mit.edu 37 X 70617286 70617286 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:70617286G>A ENST00000449580.1 + 23 3638 c.3587G>A c.(3586-3588)cGc>cAc p.R1196H TAF1_ENST00000423759.1_Missense_Mutation_p.R1217H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1217H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1196H P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1196 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) GCCTATGTGCGCATACGGACT 0.463000 4 205 0 0 1 0 0 SAMD4A 23034 broad.mit.edu 37 14 55168922 55168922 + Silent SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr14:55168922T>C ENST00000251091.5 + 2 644 c.339T>C c.(337-339)atT>atC p.I113I SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000357634.3_Silent_p.I112I|SAMD4A_ENST00000554335.1_Silent_p.I113I|SAMD4A_ENST00000392067.3_Silent_p.I113I NM_001161576.2 NP_001155048.2 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A 113 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1) 29 CTCACTCTATTGAACACAACC 0.483000 26 88 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37904081 37904081 + Silent SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:37904081G>T ENST00000316950.6 - 6 2036 c.1479C>A c.(1477-1479)ccC>ccA p.P493P ZNF569_ENST00000392150.2_Silent_p.P334P|ZNF569_ENST00000392149.2_Silent_p.P493P NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGCATTCATAGGGTTTCTCTC 0.353000 31 92 2.65835e-16 3.00013e-16 1 1 0 SNRNP200 23020 broad.mit.edu 37 2 96970571 96970571 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:96970571G>A ENST00000323853.5 - 2 158 c.81C>T c.(79-81)ctC>ctT p.L27L SNRNP200_ENST00000349783.5_Silent_p.L27L NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 27 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 TCCGGTCAATGAGAGAACGGT 0.507000 22 45 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132441028 132441028 + Missense_Mutation SNP C C A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:132441028C>A ENST00000326682.8 - 1 248 c.172G>T c.(172-174)Ggg>Tgg p.G58W NPHP3_ENST00000337331.5_Missense_Mutation_p.G58W|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000343113.4_Missense_Mutation_p.G58W|NPHP3_ENST00000383282.2_Missense_Mutation_p.G58W Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 58 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ggcagcgacccgggcccggcc 0.766000 2 2 1 1 1 1 0 GDF9 2661 broad.mit.edu 37 5 132199856 132199856 + Missense_Mutation SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr5:132199856T>C ENST00000378673.2 - 2 1236 c.370A>G c.(370-372)Aag>Gag p.K124E GDF9_ENST00000296875.2_Missense_Mutation_p.K124E|GDF9_ENST00000464378.1_5'UTR O60383 GDF9_HUMAN growth differentiation factor 9 124 female gamete generation|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 22 all_cancers(142;0.105)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGAGCCTGCTTGTGCCGGGTA 0.468000 3 190 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 139 67 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205038678 205038678 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:205038678G>A ENST00000331830.4 + 17 2469 c.2185G>A c.(2185-2187)Gtc>Atc p.V729I NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 729 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGAGCTCATCGTCAACTGGAC 0.612000 3 34 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13368242 13368242 + Silent SNP G G T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:13368242G>T ENST00000360228.5 - 28 4511 c.4512C>A c.(4510-4512)atC>atA p.I1504I CACNA1A_ENST00000573710.2_Silent_p.I1505I NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1505 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) AGGCCACAAAGATATTGACAA 0.502000 14 31 2.61681e-11 2.91167e-11 1 1 0 ABCC11 85320 broad.mit.edu 37 16 48221269 48221269 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr16:48221269C>T ENST00000394747.1 - 20 3125 c.2776G>A c.(2776-2778)Gac>Aac p.D926N ABCC11_ENST00000356608.2_Missense_Mutation_p.D926N|ABCC11_ENST00000353782.5_Missense_Mutation_p.D926N|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.D926N|ABCC11_ENST00000537808.1_3'UTR NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 926 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TGTTCCAAGTCCCCTGCGAAG 0.527000 21 37 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72840467 72840467 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:72840467C>T ENST00000293190.5 - 12 2677 c.2531G>A c.(2530-2532)cGc>cAc p.R844H GRIN2C_ENST00000347612.4_Missense_Mutation_p.R844H NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 844 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CACCGAGTGGCGCAGCTTCCA 0.617000 4 110 0 0 1 0 0 LHX9 56956 broad.mit.edu 37 1 197896796 197896796 + Missense_Mutation SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:197896796T>C ENST00000367390.3 + 5 809 c.782T>C c.(781-783)aTg>aCg p.M261T LHX9_ENST00000367391.1_Missense_Mutation_p.M261T|LHX9_ENST00000337020.2_Missense_Mutation_p.M270T|LHX9_ENST00000367387.4_Missense_Mutation_p.M270T|LHX9_ENST00000561173.1_Missense_Mutation_p.M276T NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 270 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 ACCAAGCGCATGCGAACCTCT 0.522000 9 348 0 0 1 0 0 CCDC110 256309 broad.mit.edu 37 4 186379447 186379447 + Missense_Mutation SNP C C T TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:186379447C>T ENST00000307588.3 - 6 2369 c.2294G>A c.(2293-2295)cGg>cAg p.R765Q CCDC110_ENST00000393540.3_Missense_Mutation_p.R728Q|CCDC110_ENST00000510617.1_Missense_Mutation_p.R765Q NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 765 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTGAAGATGCCGCATCTCAAA 0.308000 18 46 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906486 164906486 + Silent SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:164906486A>G ENST00000475390.1 - 2 2576 c.2133T>C c.(2131-2133)gaT>gaC p.D711D SLITRK3_ENST00000241274.3_Silent_p.D711D O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 711 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 cacctccaccaTCCTCAAACA 0.582000 HNSCC(40;0.11) 14 72 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159490676 159490676 + Silent SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:159490676G>A ENST00000389757.3 + 9 1562 c.1437G>A c.(1435-1437)gcG>gcA p.A479A PKP4_ENST00000389759.3_Silent_p.A479A NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 479 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CTACCTACGCGGAGCCCTACA 0.458000 HNSCC(62;0.18) 4 206 0 0 1 0 0 NUTM2B-AS1 101060691 broad.mit.edu 37 10 81444997 81444997 + RNA SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:81444997T>C ENST00000600376.1 - 0 54 RP11-119F19.2_ENST00000596088.1_RNA ACAACAATTTTCGGGCTTGCA 0.612000 2 6 0 0 1 0 0 IGHV1-18 28468 broad.mit.edu 37 14 106641567 106641567 + RNA SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr14:106641567G>A ENST00000390605.2 - 0 405 TGTGTCTCTCGCACAGTAATA 0.532000 82 210 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 48098552 48098552 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:48098552G>A ENST00000371741.4 - 1 632 c.466C>T c.(466-468)Cgg>Tgg p.R156W NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 156 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCCGCTCCCGTAGGGTCTCG 0.582000 46 117 0 0 1 0 0 PDHA1 5160 broad.mit.edu 37 X 19369427 19369427 + Missense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chrX:19369427G>A ENST00000379806.5 + 5 579 c.434G>A c.(433-435)gGc>gAc p.G145D PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D NM_001173454.1 NP_001166925.1 P08559 ODPA_HUMAN pyruvate dehydrogenase (lipoamide) alpha 1 107 glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix protein binding|pyruvate dehydrogenase (acetyl-transferring) activity endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1) 18 Hepatocellular(33;0.183) NADH(DB00157) CTGGAGGCCGGCATCAACCCC 0.507000 6 222 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108448071 108448071 + Missense_Mutation SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:108448071A>G ENST00000263054.6 - 10 1446 c.1439T>C c.(1438-1440)tTg>tCg p.L480S SORCS1_ENST00000344440.6_Missense_Mutation_p.L480S|SORCS1_ENST00000369698.1_Missense_Mutation_p.L15S NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 480 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CTTGTTAGCCAAGAACATTCC 0.403000 3 96 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152461285 152461285 + Nonsense_Mutation SNP G G A TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:152461285G>A ENST00000367255.5 - 140 25859 c.25258C>T c.(25258-25260)Cga>Tga p.R8420* SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.R8420*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.R598*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.R2944*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.R8032*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.R8372*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.R575* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8420 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AGCTCCCATCGGTCAATCACA 0.453000 HNSCC(10;0.0054) 26 85 0 0 1 0 0 PCMT1 5110 broad.mit.edu 37 6 150111185 150111185 + Silent SNP T T C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:150111185T>C ENST00000464889.1 + 4 746 c.462T>C c.(460-462)ttT>ttC p.F154F PCMT1_ENST00000367384.2_Silent_p.F154F|PCMT1_ENST00000544496.1_Silent_p.F61F|PCMT1_ENST00000367378.1_Silent_p.F154F|PCMT1_ENST00000367380.5_Silent_p.F96F protein-L-isoaspartate (D-aspartate) O-methyltransferase kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) CTGCATGTTTTGCACGTATGG 0.378000 4 200 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169642896 169642896 + Missense_Mutation SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr3:169642896G>C ENST00000428432.2 + 5 651 c.262G>C c.(262-264)Gaa>Caa p.E88Q SAMD7_ENST00000335556.3_Missense_Mutation_p.E88Q NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 88 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CAGAAGGAATGAAATGATTCA 0.363000 3 105 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98237004 98237004 + Missense_Mutation SNP G G C TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr5:98237004G>C ENST00000284049.3 - 5 622 c.473C>G c.(472-474)tCt>tGt p.S158C NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 158 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ACCAGACTGAGATGGAGATCC 0.348000 52 176 0 0 1 0 0 THAP9 79725 broad.mit.edu 37 4 83827690 83827690 + Missense_Mutation SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:83827690A>G ENST00000302236.5 + 3 541 c.490A>G c.(490-492)Aag>Gag p.K164E NM_024672.4 NP_078948.3 Q9H5L6 THAP9_HUMAN THAP domain containing 9 164 DNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3) 33 Hepatocellular(203;0.114) GATGATCAAGAAGAGAAAGGG 0.403000 49 117 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107032392 107032392 + Missense_Mutation SNP T T G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:107032392T>G ENST00000409886.3 - 21 5065 c.4978A>C c.(4978-4980)Agt>Cgt p.S1660R RGPD3_ENST00000304514.7_Missense_Mutation_p.S1660R NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1660 intracellular transport binding p.S1660R(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GTGGTGGAACTGAGCTTCTGA 0.383000 4 312 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114278696 114278696 + Silent SNP A A G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:114278696A>G ENST00000357077.4 + 38 8975 c.8922A>G c.(8920-8922)gcA>gcG p.A2974A ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.A2941A|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 2941 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTGTAGTGGCAAGCTCCTCTA 0.408000 5 325 0 0 1 0 0 LOC100131564 100131564 broad.mit.edu 37 1 93744310 93744310 + RNA DEL T T - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:93744310delT ENST00000451302.2 - 0 1008 RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA GGAATGCaaattttttttttt 0.279 3 5 --- --- --- --- LAX1 54900 broad.mit.edu 37 1 203743036 203743038 + In_Frame_Del DEL ACA ACA - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:203743036_203743038delACA ENST00000442561.2 + 5 814_816 c.424_426delACA c.(424-426)del p.T142del LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_In_Frame_Del_p.T126del NM_017773.3 NP_060243.2 Q8IWV1 LAX1_HUMAN lymphocyte transmembrane adaptor 1 142 B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation Golgi apparatus|integral to membrane|plasma membrane protein kinase binding|SH2 domain binding central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2) 24 all_cancers(21;0.0915) BRCA - Breast invasive adenocarcinoma(75;0.109) CCAGGAGCATACAGCCCACATCC 0.527 19 73 --- --- --- --- OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gttcagfs p.Q320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 4 8 --- --- --- --- RNASEH1-AS1 100506054 broad.mit.edu 37 2 3608083 3608086 + RNA DEL CTTC CTTC - rs33945746 by1000genomes TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:3608083_3608086delCTTC ENST00000438436.1 + 0 789 AC108488.3_ENST00000426725.1_RNA NR_038429.1 TCTcttccttcttccttccttcct 0.451 3 5 --- --- --- --- AGAP1 116987 broad.mit.edu 37 2 236817460 236817461 + Frame_Shift_Ins INS - - G TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr2:236817460_236817461insG ENST00000409538.1 + 11 2525_2526 c.2029_2030insG c.(2029-2031)agcfs p.S677fs AGAP1_ENST00000428334.2_Frame_Shift_Ins_p.S251fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.S412fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.S412fs Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 412 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GAGGCCACCCCGAGCCACGTCA 0.485 9 74 --- --- --- --- CRIPAK 285464 broad.mit.edu 37 4 1389456 1389457 + Frame_Shift_Del DEL CA CA - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr4:1389456_1389457delCA ENST00000324803.4 + 1 4117_4118 c.1157_1158delCA c.(1156-1158)tfs p.S386fs NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 386 Interaction with PAK1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CCTGCCTGCTCACACACGTGCC 0.639 9 322 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26426984 26426984 + RNA DEL T T - rs79308421 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr6:26426984delT ENST00000466808.2 + 0 1067 GAACCTAGTCTTTTTTTTTTT 0.428 3 3 --- --- --- --- CELP 1057 broad.mit.edu 37 9 135962465 135962465 + RNA DEL T T - rs63239560 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr9:135962465delT ENST00000411440.2 + 0 972 NR_001275.2 AGGATGCCCCTGTGCCCCTCA 0.677 5 5 --- --- --- --- HELLS 3070 broad.mit.edu 37 10 96348062 96348062 + Frame_Shift_Del DEL T T - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr10:96348062delT ENST00000348459.5 + 13 1508 c.1403delT c.(1402-1404)gtfs p.V468fs RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Frame_Shift_Del_p.V370fs|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000371332.4_Frame_Shift_Del_p.V514fs NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 468 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) GAAGTAGTCGTTTATGCTCCA 0.363 35 82 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA GGCTGTGGA - rs71025763 TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr11:1651191_1651199delGGCTGTGGA ENST00000399676.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)del p.GCG47del NM_001001480.2 NP_001001480.2 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47 keratin filament endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1) 33 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ctgtggctccggctgtggaggctgtgggg 0.713 32 16 --- --- --- --- SNORD3B-2 780852 broad.mit.edu 37 17 18967365 18967377 + RNA DEL TTCCTCGGGGTTT TTCCTCGGGGTTT - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr17:18967365_18967377delTTCCTCGGGGTTT ENST00000364880.1 - 0 72_84 gctacctctcttcctcggggttttcggtgctct 0.502 10 54 --- --- --- --- CTC-400I9.3 0 broad.mit.edu 37 19 31443058 31443059 + RNA INS - - CTCC rs144141390 by1000genomes TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr19:31443058_31443059insCTCC ENST00000587702.1 + 0 92 tccctccctctctccctccctc 0.465 5 5 --- --- --- --- ZNF337 26152 broad.mit.edu 37 20 25657231 25657232 + Frame_Shift_Del DEL TG TG - TCGA-CR-5249-01A-01D-1512-08 TCGA-CR-5249-10A-01D-1512-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42bf9ca3-47d8-45ff-bccf-bda80af58d22 25a6fe65-a78b-4adc-8ce7-1bc2bc4bbf48 g.chr20:25657231_25657232delTG ENST00000376436.1 - 4 1231_1232 c.692_693delCA c.(691-693)afs p.T231fs ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTTCTCTCCTGTGTGTGTGTT 0.510 7 184 --- --- --- ---