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 PPP6R3 55291 broad.mit.edu 37 11 68326128 68326128 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr11:68326128C>T ENST00000393799.2 + 8 1093 c.826C>T c.(826-828)Ctt>Ttt p.L276F PPP6R3_ENST00000527403.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000265637.4_Missense_Mutation_p.L276F|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000393800.2_Missense_Mutation_p.L276F|PPP6R3_ENST00000529710.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524904.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000524845.1_Missense_Mutation_p.L276F|PPP6R3_ENST00000393801.3_Missense_Mutation_p.L276F|PPP6R3_ENST00000265636.5_Missense_Mutation_p.L276F Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 276 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 GCTGACTTTACTTGAGACACG 0.358000 20 60 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167289081 167289081 + Missense_Mutation SNP T T A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:167289081T>A ENST00000409855.1 - 15 2465 c.2339A>T c.(2338-2340)cAt>cTt p.H780L NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 780 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 CTCATTTACATGGTCCATTGT 0.353000 41 57 0 0 1 0 0 SCLY 51540 broad.mit.edu 37 2 238999914 238999914 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:238999914G>C ENST00000409736.2 + 8 964 c.940G>C c.(940-942)Gag>Cag p.E314Q SCLY_ENST00000422984.2_Intron|SCLY_ENST00000373332.3_Missense_Mutation_p.E232Q|SCLY_ENST00000555827.1_Intron|SCLY_ENST00000254663.6_Intron|SCLY_ENST00000429612.2_Intron Q96I15 SCLY_HUMAN selenocysteine lyase 0 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) TGGTGAGCTTGAGGAGATGAG 0.478000 22 86 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 5 31 0 0 1 0 0 RP11-644F5.10 0 broad.mit.edu 37 12 56109922 56109922 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:56109922G>A ENST00000550412.1 + 1 103 c.87G>A c.(85-87)atG>atA p.M29I BLOC1S1_ENST00000549147.1_Missense_Mutation_p.M29I|BLOC1S1_ENST00000257899.2_Start_Codon_SNP_p.M1I|BLOC1S1_ENST00000548925.1_Missense_Mutation_p.M29I endometrium(1)|lung(1) 2 ACGTGACCATGCTGTCCCGCC 0.657000 15 16 0 0 1 0 0 TNNT1 7138 broad.mit.edu 37 19 55653236 55653236 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:55653236C>T ENST00000588981.1 - 7 385 c.181G>A c.(181-183)Gtt>Att p.V61I TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000536926.1_Missense_Mutation_p.V50I|TNNT1_ENST00000291901.8_Missense_Mutation_p.V61I|TNNT1_ENST00000587758.1_Missense_Mutation_p.V50I|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000356783.5_Missense_Mutation_p.V50I|TNNT1_ENST00000587465.2_5'UTR NM_003283.4 NP_003274.3 P13805 TNNT1_HUMAN troponin T type 1 (skeletal, slow) 61 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding endometrium(2)|kidney(3)|lung(4)|ovary(1) 10 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) TCGAAGTCAACGCGCTCCCCT 0.602000 23 141 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 59829994 59829994 + Splice_Site SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr20:59829994G>T ENST00000360469.5 + 2 257 c.e2+1 NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CTACTTCAAGGTAAGGCGGGG 0.483000 34 57 1.74807e-11 1.98644e-11 1 1 0 NELFE 7936 broad.mit.edu 37 6 31922417 31922417 + Missense_Mutation SNP A A T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:31922417A>T ENST00000375429.3 - 7 883 c.657T>A c.(655-657)gaT>gaA p.D219E NELFE_ENST00000444811.2_Missense_Mutation_p.D189E|NELFE_ENST00000375425.5_Missense_Mutation_p.D226E NM_002904.5 NP_002895.3 negative elongation factor complex member E p.D219>?(1) cccgatcccgatccctgtccc 0.642000 15 53 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 3 24 0 0 1 0 0 CYP4B1 1580 broad.mit.edu 37 1 47284343 47284343 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:47284343G>C ENST00000271153.4 + 12 1429 c.1393G>C c.(1393-1395)Gtg>Ctg p.V465L CYP4B1_ENST00000371923.4_Missense_Mutation_p.V466L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.V451L|CYP4B1_ENST00000452782.2_Missense_Mutation_p.V303L P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 465 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) TGAGATGAAGGTGGTCACAGC 0.537000 56 43 0 0 1 0 0 OR4L1 122742 broad.mit.edu 37 14 20528715 20528715 + Missense_Mutation SNP A A G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:20528715A>G ENST00000315683.1 + 1 512 c.512A>G c.(511-513)cAc>cGc p.H171R NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TTCTGTGGCCACAATGTCATA 0.398000 62 66 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286045 11286045 + Missense_Mutation SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:11286045T>C ENST00000539585.1 - 1 1198 c.799A>G c.(799-801)Att>Gtt p.I267V TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 CTGAATATAATAGCTTGGCAG 0.398000 97 58 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103470202 103470202 + Missense_Mutation SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:103470202G>T ENST00000358392.2 - 19 2214 c.1897C>A c.(1897-1899)Caa>Aaa p.Q633K COL11A1_ENST00000353414.4_Missense_Mutation_p.Q582K|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q621K|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q505K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 621 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GGAGGACCTTGAGGACCTCGT 0.323000 4 13 0.184627 0.186492 1 1 0 CDKL5 6792 broad.mit.edu 37 X 18622158 18622158 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chrX:18622158G>A ENST00000379989.3 + 13 1399 c.1114G>A c.(1114-1116)Gct>Act p.A372T CDKL5_ENST00000379996.3_Missense_Mutation_p.A372T|CDKL5_ENST00000463994.1_3'UTR NM_001037343.1 NP_001032420.1 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 372 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) TGGAAACCTTGCTGGAGCTAG 0.522000 44 168 0 0 1 0 0 NFX1 0 broad.mit.edu 37 9 33295250 33295250 + Silent SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr9:33295250C>T ENST00000379540.3 + 2 920 c.858C>T c.(856-858)ctC>ctT p.L286L NFX1_ENST00000379521.4_Silent_p.L286L|NFX1_ENST00000318524.6_Silent_p.L286L NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 286 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) AGGATGACCTCAATGAAAGAC 0.512000 26 17 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153247366 153247366 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr4:153247366C>T ENST00000281708.4 - 10 2665 c.1436G>A c.(1435-1437)cGa>cAa p.R479Q FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 479 interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) AGTGGCATCTCGAGAACCGCT 0.403000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 9 32 0 0 1 0 0 GABRR2 2570 broad.mit.edu 37 6 90024791 90024791 + Missense_Mutation SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:90024791C>A ENST00000402938.3 - 1 227 c.94G>T c.(94-96)Gtg>Ttg p.V32L GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V57L P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 2 57 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1) 21 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) GGCATTTCCACCTGCCCTGTC 0.507000 10 215 1.58986e-06 1.70953e-06 1 1 0 LSAMP 4045 broad.mit.edu 37 3 115805175 115805175 + Silent SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:115805175T>C ENST00000490035.1 - 2 883 c.384A>G c.(382-384)gtA>gtG p.V128V LSAMP_ENST00000539563.1_Silent_p.V125V NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 128 cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CCTTACCTTGTACGATCAAGT 0.438000 10 45 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33245110 33245110 + Missense_Mutation SNP C C T rs147005844 byFrequency TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:33245110C>T ENST00000373477.4 - 12 2257 c.1349G>A c.(1348-1350)cGc>cAc p.R450H YARS_ENST00000469100.1_5'UTR NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 450 tRNA-binding. apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity p.R450H(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTCAACCTGGCGGTTTATCCC 0.557000 19 29 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41739574 41739574 + Missense_Mutation SNP T T A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr22:41739574T>A ENST00000352645.4 + 13 1710 c.1453T>A c.(1453-1455)Tgc>Agc p.C485S ZC3H7B_ENST00000351589.4_Missense_Mutation_p.C485S NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 501 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTACTACCTGTGCAAAGGTGG 0.677000 11 12 0 0 1 0 0 SCPEP1 59342 broad.mit.edu 37 17 55062742 55062742 + Missense_Mutation SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr17:55062742G>T ENST00000262288.3 + 3 284 c.229G>T c.(229-231)Ggt>Tgt p.G77C SCPEP1_ENST00000571898.1_3'UTR NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 77 proteolysis extracellular region serine-type carboxypeptidase activity p.G77S(1) endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) TCCATAGGGCGGTCCAGGCGG 0.423000 17 51 5.01169e-05 5.27547e-05 1 1 0 WDR19 57728 broad.mit.edu 37 4 39230233 39230233 + Silent SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr4:39230233T>C ENST00000399820.3 + 17 2059 c.1905T>C c.(1903-1905)caT>caC p.H635H WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.H475H NM_025132.3 NP_079408.3 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 635 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TTAGCACCCATGGCTTTCTCA 0.428000 46 44 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87780297 87780297 + Splice_Site SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr7:87780297G>A ENST00000398204.4 + 19 1891 c.1566_splice c.e19-1 p.C523_splice ADAM22_ENST00000398201.4_Splice_Site_p.C523_splice|ADAM22_ENST00000265727.7_Splice_Site_p.C523_splice|ADAM22_ENST00000398209.3_Splice_Site_p.C523_splice|ADAM22_ENST00000315984.7_Splice_Site_p.C523_splice NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 523 Disintegrin. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTTTCCTAGTGTGCCCCTAAT 0.328000 25 15 0 0 1 0 0 ZNF418 147686 broad.mit.edu 37 19 58438844 58438844 + Silent SNP A A G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:58438844A>G ENST00000396147.1 - 4 996 c.705T>C c.(703-705)tgT>tgC p.C235C ZNF418_ENST00000599852.1_Silent_p.C150C|ZNF418_ENST00000595830.1_Silent_p.C235C|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.C256C NM_133460.1 NP_597717.1 Q8TF45 ZN418_HUMAN zinc finger protein 418 235 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158) AGGATTTCCCACATTCCCAGC 0.403000 11 55 0 0 1 0 0 OR5V1 81696 broad.mit.edu 37 6 29323301 29323301 + Silent SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:29323301G>T ENST00000377154.1 - 4 971 c.672C>A c.(670-672)acC>acA p.T224T OR5V1_ENST00000543825.1_Silent_p.T224T Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, member 1 224 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCTCAAGATGGTGGAGATTA 0.468000 29 163 1.16021e-09 1.28912e-09 1 1 0 GRM3 0 broad.mit.edu 37 7 86416020 86416020 + Silent SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr7:86416020C>T ENST00000361669.2 + 3 2011 c.912C>T c.(910-912)ggC>ggT p.G304G GRM3_ENST00000394720.2_Silent_p.G302G|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Silent_p.G304G|GRM3_ENST00000536043.1_Silent_p.G176G NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 304 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACGGCTGGGGCGCGCAGGAGA 0.677000 19 49 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8995770 8995770 + Missense_Mutation SNP A A C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:8995770A>C ENST00000299698.7 + 12 1469 c.1289A>C c.(1288-1290)cAa>cCa p.Q430P NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 274 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 AATCCGGAACAAGTGCCACGT 0.483000 54 45 0 0 1 0 0 MDGA2 161357 broad.mit.edu 37 14 47324352 47324352 + Missense_Mutation SNP A A C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:47324352A>C ENST00000426342.1 - 15 2610 c.1864T>G c.(1864-1866)Tta>Gta p.L622V MDGA2_ENST00000357362.3_Missense_Mutation_p.L622V|MDGA2_ENST00000439988.2_Missense_Mutation_p.L851V|MDGA2_ENST00000399222.3_Missense_Mutation_p.L53V|MDGA2_ENST00000399232.2_Missense_Mutation_p.L920V NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 851 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 TAAACATTTAAGACACCTAAA 0.308000 5 23 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45024554 45024554 + RNA SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:45024554G>C ENST00000454753.1 - 0 1262 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GGCTGCCCCAGTTCCAGACCT 0.617000 26 22 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136915512 136915512 + Missense_Mutation SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr9:136915512G>T ENST00000303407.7 - 5 883 c.698C>A c.(697-699)aCg>aAg p.T233K BRD3_ENST00000357885.2_Missense_Mutation_p.T233K|BRD3_ENST00000371834.2_Missense_Mutation_p.T233K NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 233 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) GACAGGCGGCGTAGGAGGGAC 0.692000 T C15orf55 lethal midline carcinoma of young people 57 2 1.74971e-23 2.10809e-23 1 1 0 CACNB4 785 broad.mit.edu 37 2 152711818 152711818 + Missense_Mutation SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:152711818C>A ENST00000360283.6 - 10 1098 c.841G>T c.(841-843)Gac>Tac p.D281Y CACNB4_ENST00000201943.5_Missense_Mutation_p.D314Y|CACNB4_ENST00000397327.2_Missense_Mutation_p.D267Y|CACNB4_ENST00000539935.1_Missense_Mutation_p.D314Y|CACNB4_ENST00000534999.1_Missense_Mutation_p.D280Y|CACNB4_ENST00000427385.1_Missense_Mutation_p.D296Y O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 314 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TTGATGGTGTCTGCATCAAGA 0.373000 5 33 1.23904e-05 1.31813e-05 1 1 0 PUS7L 83448 broad.mit.edu 37 12 44148360 44148360 + Missense_Mutation SNP T T G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:44148360T>G ENST00000416848.2 - 2 1177 c.689A>C c.(688-690)aAa>aCa p.K230T PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.K230T|PUS7L_ENST00000551923.1_Missense_Mutation_p.K230T|PUS7L_ENST00000553166.1_Missense_Mutation_p.K230T NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 230 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) AAAGGTAAATTTGGAATTTTC 0.308000 6 40 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98457843 98457843 + Silent SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr7:98457843G>C ENST00000450876.1 - 3 1573 c.258C>G c.(256-258)ctC>ctG p.L86L TMEM130_ENST00000339375.4_Silent_p.L170L|TMEM130_ENST00000345589.4_Silent_p.L68L|TMEM130_ENST00000546258.1_Silent_p.L151L|TMEM130_ENST00000416379.2_Silent_p.L170L Q8N3G9 TM130_HUMAN transmembrane protein 130 170 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AGGCGGTCTTGAGGAAGTTGC 0.592000 14 29 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 124008056 124008056 + Missense_Mutation SNP A A T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:124008056A>T ENST00000376874.4 - 2 681 c.446T>A c.(445-447)tTc>tAc p.F149Y NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 149 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) ATGCTTCTGGAACTCCTCCTC 0.577000 22 79 0 0 1 0 0 CSRNP1 64651 broad.mit.edu 37 3 39185088 39185088 + Missense_Mutation SNP C C G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:39185088C>G ENST00000273153.5 - 5 1405 c.1228G>C c.(1228-1230)Gag>Cag p.E410Q CSRNP1_ENST00000514182.1_Missense_Mutation_p.E410Q NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 410 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 CTCCCTTCCTCCTCTTCCTCC 0.602000 11 49 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159642727 159642727 + Splice_Site SNP A A T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:159642727A>T ENST00000297267.9 + 6 965 c.766_splice c.e6+1 p.S255_splice FNDC1_ENST00000480856.1_3'UTR|FNDC1_ENST00000340366.6_Splice_Site_p.S255_splice NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 255 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GAAAGATTTCAGGTATGTTTC 0.453000 3 33 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53611281 53611281 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chrX:53611281G>A ENST00000342160.3 - 40 5483 c.5026C>T c.(5026-5028)Cgc>Tgc p.R1676C HUWE1_ENST00000218328.8_Intron|HUWE1_ENST00000262854.6_Missense_Mutation_p.R1676C Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1676 WWE. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ATCACAGGGCGTCGGTTCCCT 0.438000 5 52 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150889670 150889670 + Missense_Mutation SNP T T G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr5:150889670T>G ENST00000261800.5 - 21 11983 c.11971A>C c.(11971-11973)Act>Cct p.T3991P CTC-251D13.1_ENST00000606930.1_RNA NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3991 EGF-like 2. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGTGCAAAAGTACAGTTCTCC 0.522000 6 141 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100733115 100733115 + Missense_Mutation SNP A A G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr8:100733115A>G ENST00000358544.2 + 39 7076 c.6965A>G c.(6964-6966)tAt>tGt p.Y2322C VPS13B_ENST00000357162.2_Missense_Mutation_p.Y2297C|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2322 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CCTGGGGTCTATGAAGTCTTA 0.348000 14 21 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27277388 27277388 + Splice_Site SNP A A T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr21:27277388A>T ENST00000357903.3 - 14 2020 c.1852_splice c.e14-1 p.V618_splice APP_ENST00000354192.3_Splice_Site_p.V506_splice|APP_ENST00000439274.2_Splice_Site_p.V581_splice|APP_ENST00000348990.5_Splice_Site_p.V562_splice|APP_ENST00000448388.2_Splice_Site_p.V527_splice|APP_ENST00000346798.3_Splice_Site_p.V637_splice|APP_ENST00000440126.3_Splice_Site_p.V613_splice|APP_ENST00000359726.3_Splice_Site_p.V581_splice|APP_ENST00000358918.3_Intron NM_201413.2 NP_958816.1 P05067 A4_HUMAN amyloid beta (A4) precursor protein 637 adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) CAACAGGCTCAACTGGGCACA 0.537000 10 13 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53058029 53058029 + Silent SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:53058029G>A ENST00000359798.4 + 5 2040 c.1860G>A c.(1858-1860)gaG>gaA p.E620E NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 620 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ATACTGGAGAGAAACCATACA 0.398000 35 34 0 0 1 0 0 FBLN1 2192 broad.mit.edu 37 22 45914649 45914649 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr22:45914649C>T ENST00000348697.2 + 2 314 c.167C>T c.(166-168)aCg>aTg p.T56M FBLN1_ENST00000402984.3_Missense_Mutation_p.T56M|FBLN1_ENST00000340923.5_Missense_Mutation_p.T56M|FBLN1_ENST00000327858.6_Missense_Mutation_p.T56M|FBLN1_ENST00000262722.7_Missense_Mutation_p.T56M|FBLN1_ENST00000442170.2_Missense_Mutation_p.T56M P23142 FBLN1_HUMAN fibulin 1 56 Anaphylatoxin-like 1. interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CCATATGCTACGGAATCCAAA 0.562000 18 0 0 0 1 0 0 MT-RNR2 0 broad.mit.edu 37 MT 2004 2004 + RNA SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chrM:2004G>A ENST00000387347.2 + 0 334 NR_039705.1 CAAACCTACCGAGCCTGGTGA 0.433000 63 3 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652949 1652949 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:1652949C>T ENST00000252804.4 - 17 2653 c.2603G>A c.(2602-2604)cGg>cAg p.R868Q NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 868 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GCTCCTGGCCCGGGAGTCATT 0.662000 17 31 0 0 1 0 0 SIL1 64374 broad.mit.edu 37 5 138282944 138282944 + Silent SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr5:138282944G>C ENST00000394817.2 - 10 1387 c.1248C>G c.(1246-1248)ccC>ccG p.P416P SIL1_ENST00000515008.1_5'UTR|SIL1_ENST00000265195.5_Silent_p.P416P|SIL1_ENST00000509534.1_Silent_p.P423P NM_022464.4 NP_071909.1 Q9H173 SIL1_HUMAN SIL1 nucleotide exchange factor 416 intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGCCGAGCTGGGGGTCCTGAC 0.677000 Marinesco-Sjgren syndrome 34 21 0 0 1 0 0 MAN1B1 11253 broad.mit.edu 37 9 139981513 139981513 + Missense_Mutation SNP C C G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr9:139981513C>G ENST00000371589.4 + 1 135 c.62C>G c.(61-63)aCg>aGg p.T21R NM_016219.4 NP_057303.2 Q9UKM7 MA1B1_HUMAN mannosidase, alpha, class 1B, member 1 21 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2) 14 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) GACTTCCTGACGCCGCCAGTG 0.687000 4 10 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286029 11286029 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:11286029G>A ENST00000539585.1 - 1 1214 c.815C>T c.(814-816)cCt>cTt p.P272L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 GTGGGTTGAAGGATAGCTGAA 0.413000 94 52 0 0 1 0 0 GPR149 344758 broad.mit.edu 37 3 154056029 154056029 + Missense_Mutation SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:154056029C>A ENST00000389740.2 - 4 1754 c.1655G>T c.(1654-1656)tGt>tTt p.C552F NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 552 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) CTGGAATGCACACAAGGGAAT 0.448000 61 135 3.7469e-33 4.56939e-33 1 1 0 PTGER4 5734 broad.mit.edu 37 5 40691917 40691917 + Silent SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr5:40691917T>C ENST00000302472.3 + 3 1928 c.904T>C c.(904-906)Ttg>Ctg p.L302L NM_000958.2 NP_000949.1 P35408 PE2R4_HUMAN prostaglandin E receptor 4 (subtype EP4) 302 G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 TCAGCCAAGTTTGGAGCGAGA 0.413000 17 72 0 0 1 0 0 PTPN13 0 broad.mit.edu 37 4 87696407 87696407 + Silent SNP T T A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr4:87696407T>A ENST00000436978.1 + 34 6087 c.5607T>A c.(5605-5607)gtT>gtA p.V1869V PTPN13_ENST00000411767.2_Silent_p.V1864V|PTPN13_ENST00000427191.2_Silent_p.V1845V|PTPN13_ENST00000316707.6_Silent_p.V1673V|PTPN13_ENST00000511467.1_Silent_p.V1869V NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 1864 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAGATTAGTTATTGGACGAG 0.388000 4 23 0 0 1 0 0 PPAN-P2RY11 0 broad.mit.edu 37 19 10221193 10221193 + Missense_Mutation SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:10221193C>A ENST00000428358.1 + 10 1106 c.934C>A c.(934-936)Ctg>Atg p.L312M PPAN_ENST00000556468.1_Missense_Mutation_p.L312M|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.L312M|PPAN_ENST00000393793.1_Missense_Mutation_p.L259M|PPAN_ENST00000253107.7_Missense_Mutation_p.L312M NM_001040664.2|NM_001198690.1 NP_001035754.1|NP_001185619.1 Q9NQ55 SSF1_HUMAN 312 RNA splicing nucleolus protein binding p.L312V(4) breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 31 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCAGGCCATCCTGGAAGCCAA 0.667000 10 150 9.70103e-10 1.09e-09 1 1 0 TRIP11 9321 broad.mit.edu 37 14 92506029 92506029 + Translation_Start_Site SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:92506029T>C ENST00000267622.4 - 1 374 c.1A>G c.(1-3)Atg>Gtg p.M1V TRIP11_ENST00000555105.1_5'UTR NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 1 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) CAGGACGACATCGCGGCGAGT 0.602000 T PDGFRB AML 6 2 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33604672 33604672 + Splice_Site SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:33604672G>T ENST00000170564.2 + 14 2206 c.e14-1 NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TCAATTCCCAGTTCAACTTTA 0.433000 15 26 0.000422831 0.000435909 1 1 0 ELF1 1997 broad.mit.edu 37 13 41507845 41507845 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr13:41507845G>C ENST00000239882.3 - 9 1890 c.1576C>G c.(1576-1578)Cca>Gca p.P526A ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.P502A NM_172373.3 NP_758961.1 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription factor) 526 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CTGAAGGATGGAGAGGAAGCC 0.512000 45 4 0 0 1 0 0 CXCL12 6387 broad.mit.edu 37 10 44873206 44873206 + Silent SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr10:44873206C>A ENST00000395794.2 - 4 457 c.414G>T c.(412-414)ggG>ggT p.G138G CXCL12_ENST00000374426.2_Intron|CXCL12_ENST00000374429.2_Intron|CXCL12_ENST00000395793.3_Intron|CXCL12_ENST00000395795.4_Intron|CXCL12_ENST00000343575.6_3'UTR NM_001178134.1 NP_001171605.1 P48061 SDF1_HUMAN chemokine (C-X-C motif) ligand 12 0 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) ATTACACATCCCCAGGAGAGG 0.547000 16 11 4.14922e-12 4.88143e-12 1 1 0 EDAR 10913 broad.mit.edu 37 2 109513391 109513391 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:109513391G>C ENST00000409271.1 - 12 1858 c.1415C>G c.(1414-1416)cCt>cGt p.P472R EDAR_ENST00000376651.1_Missense_Mutation_p.P472R|EDAR_ENST00000258443.2_Missense_Mutation_p.P440R Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 440 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CTGGGAGGCAGGTGGCACAAC 0.592000 12 9 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577552 7577552 + Missense_Mutation SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr17:7577552C>A ENST00000420246.2 - 7 861 c.729G>T c.(727-729)atG>atT p.M243I TP53_ENST00000413465.2_Missense_Mutation_p.M243I|TP53_ENST00000455263.2_Missense_Mutation_p.M243I|TP53_ENST00000269305.4_Missense_Mutation_p.M243I|TP53_ENST00000445888.2_Missense_Mutation_p.M243I|TP53_ENST00000359597.4_Missense_Mutation_p.M243I NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 243 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.M243I(7)|p.?(5)|p.M243_G244>IC(1)|p.M243fs*18(1)|p.G244fs*3(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.M243T(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCATGCCGCCCATGCAGGAAC 0.582000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 30 2 4.34311e-12 5.05012e-12 1 1 0 IGHV4OR15-8 0 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 4 47 0 0 1 0 0 C15orf41 84529 broad.mit.edu 37 15 36872095 36872095 + Missense_Mutation SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr15:36872095G>T ENST00000566621.1 + 1 284 c.34G>T c.(34-36)Gcc>Tcc p.A12S C15orf41_ENST00000569302.1_Missense_Mutation_p.A12S|C15orf41_ENST00000437989.2_Missense_Mutation_p.A12S NM_001130010.1 NP_001123482.1 Q9Y2V0 CO041_HUMAN chromosome 15 open reading frame 41 12 protein binding kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222) all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11) CGACGAGATAGCCCAGTGCCT 0.567000 8 11 1.26484e-09 1.38994e-09 1 1 0 PHLDB1 23187 broad.mit.edu 37 11 118506246 118506246 + Missense_Mutation SNP C C G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr11:118506246C>G ENST00000361417.2 + 11 2926 c.2515C>G c.(2515-2517)Cgc>Ggc p.R839G PHLDB1_ENST00000356063.5_Missense_Mutation_p.R839G|PHLDB1_ENST00000534672.1_3'UTR NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 839 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGAGCTGCTCCGCAGCATCGC 0.632000 17 56 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140278710 140278710 + Splice_Site SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr4:140278710G>A ENST00000296543.5 + 11 1580 c.e11+1 NAA15_ENST00000398947.1_Splice_Site NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 AATCTATAAGGTAAAAATCTT 0.284000 6 4 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42689572 42689572 + Silent SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:42689572G>T ENST00000230381.5 - 1 740 c.501C>A c.(499-501)ggC>ggA p.G167G NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 167 G -> D (in PDREP; butterfly-shaped).|G -> S (in PDREP; butterfly-shaped). cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AACCGTTGTTGCCGCAGCATT 0.502000 22 234 7.41877e-09 8.06388e-09 1 1 0 ZNF326 284695 broad.mit.edu 37 1 90484253 90484253 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:90484253G>A ENST00000340281.4 + 9 1227 c.1084G>A c.(1084-1086)Gtg>Atg p.V362M ZNF326_ENST00000370447.2_Missense_Mutation_p.V273M|ZNF326_ENST00000455342.2_Missense_Mutation_p.V156M NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) GGAGTGTATGGTGAATAAATT 0.289000 12 11 0 0 1 0 0 CHD4 1108 broad.mit.edu 37 12 6696569 6696569 + Missense_Mutation SNP A A C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:6696569A>C ENST00000309577.6 - 25 4023 c.3860T>G c.(3859-3861)gTa>gGa p.V1287G CHD4_ENST00000544484.1_Missense_Mutation_p.V1284G|CHD4_ENST00000357008.2_Missense_Mutation_p.V1287G|CHD4_ENST00000544040.1_Missense_Mutation_p.V1280G|CHD4_ENST00000540960.1_5'UTR Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1287 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTTCCCGTACCACATACTG 0.448000 35 66 0 0 1 0 0 PPHLN1 51535 broad.mit.edu 37 12 42745780 42745780 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:42745780G>A ENST00000395568.2 + 3 250 c.166G>A c.(166-168)Gtt>Att p.V56I PPHLN1_ENST00000432191.2_Intron|PPHLN1_ENST00000358314.7_Missense_Mutation_p.V56I|PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000337898.6_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.V74I|PPHLN1_ENST00000449194.2_Missense_Mutation_p.V56I|PPHLN1_ENST00000552761.1_Intron|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.V63I NM_016488.6 NP_057572.5 Q8NEY8 PPHLN_HUMAN periphilin 1 56 keratinization cytoplasm|nucleus breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 16 all_cancers(12;0.00049)|Breast(8;0.165) Lung NSC(34;0.123) GBM - Glioblastoma multiforme(48;0.0875) TTACAGTCATGTTGATTACCG 0.423000 15 30 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127439984 127439984 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:127439984G>C ENST00000434178.2 - 5 1288 c.392C>G c.(391-393)aCg>aGg p.T131R MGLL_ENST00000265052.5_Missense_Mutation_p.T141R|MGLL_ENST00000398104.1_Missense_Mutation_p.T131R|MGLL_ENST00000453507.2_Missense_Mutation_p.T141R|MGLL_ENST00000398101.3_Missense_Mutation_p.T105R Q99685 MGLL_HUMAN monoglyceride lipase 131 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 CTCTGCGGCCGTGAGGATGGC 0.537000 22 60 0 0 1 0 0 DPF1 0 broad.mit.edu 37 19 38713335 38713335 + Missense_Mutation SNP A A C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr19:38713335A>C ENST00000416611.1 - 2 169 c.46T>G c.(46-48)Ttc>Gtc p.F16V DPF1_ENST00000414789.1_5'UTR|DPF1_ENST00000456296.1_Missense_Mutation_p.F16V|DPF1_ENST00000420980.2_Missense_Mutation_p.F42V|DPF1_ENST00000412732.1_5'UTR|DPF1_ENST00000355526.4_Missense_Mutation_p.F42V Q92782 DPF1_HUMAN D4, zinc and double PHD fingers family 1 42 induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nBAF complex zinc ion binding large_intestine(1)|lung(4)|ovary(1)|skin(1) 7 all_cancers(60;1.24e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) TCGCGGTAGAAGTCCTCGCCT 0.731000 8 13 0 0 1 0 0 NR4A1 0 broad.mit.edu 37 12 52448894 52448894 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:52448894G>A ENST00000545748.1 + 3 1939 c.944G>A c.(943-945)gGt>gAt p.G315D NR4A1_ENST00000243050.1_Missense_Mutation_p.G261D|NR4A1_ENST00000548232.1_Missense_Mutation_p.G261D|NR4A1_ENST00000360284.3_Missense_Mutation_p.G274D|NR4A1_ENST00000550082.1_Missense_Mutation_p.G274D|NR4A1_ENST00000394824.2_Missense_Mutation_p.G261D|NR4A1_ENST00000394825.1_Missense_Mutation_p.G261D P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 261 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) GGGGCCCCAGGTGGAAGTGAA 0.612000 45 48 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77713331 77713331 + Translation_Start_Site SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr13:77713331G>A ENST00000360084.5 - 0 7637 MYCBP2_ENST00000544440.2_Splice_Site_p.D2515_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.D2515_splice|MYCBP2_ENST00000407578.2_Splice_Site_p.D2553_splice O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTTACTTACGTCAACAGGGA 0.383000 4 76 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235972583 235972583 + Missense_Mutation SNP T T C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:235972583T>C ENST00000389794.3 - 5 1709 c.1535A>G c.(1534-1536)cAt>cGt p.H512R LYST_ENST00000536965.1_Missense_Mutation_p.H512R|LYST_ENST00000389793.2_Missense_Mutation_p.H512R Q99698 LYST_HUMAN lysosomal trafficking regulator 512 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ATCTCGGTGATGATGCATAAA 0.383000 44 23 0 0 1 0 0 ADAM17 6868 broad.mit.edu 37 2 9663433 9663433 + Missense_Mutation SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:9663433C>T ENST00000310823.3 - 7 970 c.788G>A c.(787-789)cGg>cAg p.R263Q ADAM17_ENST00000497134.1_Missense_Mutation_p.R263Q NM_003183.4 NP_003174.3 P78536 ADA17_HUMAN ADAM metallopeptidase domain 17 263 Peptidase M12B. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 28 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) TGAAGTGTTCCGATAGATGTC 0.323000 34 28 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102300458 102300458 + Missense_Mutation SNP A A C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr10:102300458A>C ENST00000299163.5 + 3 596 c.496A>C c.(496-498)Aac>Cac p.N166H HIF1AN_ENST00000528044.1_3'UTR NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 166 Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) CTTAGGTTTTAACTGGAACTG 0.448000 39 7 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52387803 52387803 + Missense_Mutation SNP G G T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr12:52387803G>T ENST00000257963.4 + 9 1504 c.1427G>T c.(1426-1428)tGt>tTt p.C476F ACVR1B_ENST00000541224.1_Missense_Mutation_p.C517F|ACVR1B_ENST00000542485.1_Missense_Mutation_p.C424F NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 476 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) ATGCGAGAGTGTTGGTATGCC 0.607000 59 51 2.14255e-21 2.55065e-21 1 1 0 SPTBN5 51332 broad.mit.edu 37 15 42178339 42178339 + Missense_Mutation SNP G G A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr15:42178339G>A ENST00000320955.6 - 7 1341 c.1114C>T c.(1114-1116)Cgg>Tgg p.R372W NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 372 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) GTCTGTAGCCGGAAGAGCAGG 0.672000 12 1 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347056 48347056 + Silent SNP C C A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr11:48347056C>A ENST00000319856.4 + 1 585 c.564C>A c.(562-564)gtC>gtA p.V188V NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TCCTCCTGGTCCTTTGGTTGC 0.517000 7 83 1.02788e-11 1.18148e-11 1 1 0 DICER1 23405 broad.mit.edu 37 14 95557638 95557638 + Missense_Mutation SNP T T A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:95557638T>A ENST00000526495.1 - 27 5720 c.5429A>T c.(5428-5430)gAt>gTt p.D1810V DICER1_ENST00000527414.1_Missense_Mutation_p.D1810V|DICER1_ENST00000343455.3_Missense_Mutation_p.D1810V|DICER1_ENST00000556045.1_Missense_Mutation_p.D708V|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000393063.1_Missense_Mutation_p.D1810V|DICER1_ENST00000527416.2_5'UTR Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1810 RNase III 2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity p.D1810A(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTCAAAAATATCCCCCATGGC 0.453000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 115 122 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31605884 31605884 + Missense_Mutation SNP G G C TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:31605884G>C ENST00000379416.3 - 11 1069 c.1021C>G c.(1021-1023)Caa>Gaa p.Q341E XDH_ENST00000491727.1_5'UTR NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 341 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GACTTGACTTGCTTCCCAGCA 0.557000 32 22 0 0 1 0 0 SYNGR3 9143 broad.mit.edu 37 16 2042103 2042103 + Silent SNP C C G TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr16:2042103C>G ENST00000248121.2 + 2 386 c.228C>G c.(226-228)ctC>ctG p.L76L SYNGR3_ENST00000562045.1_5'UTR NM_004209.5 NP_004200.2 O43761 SNG3_HUMAN synaptogyrin 3 76 MARVEL. positive regulation of transporter activity cell junction|integral to plasma membrane|synaptic vesicle endometrium(1)|lung(2) 3 CGCTGGGCCTCGGAGCCTTCC 0.706000 10 5 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82764634 82764634 + Silent SNP C C T TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr7:82764634C>T ENST00000423517.2 - 3 2569 c.2232G>A c.(2230-2232)caG>caA p.Q744Q PCLO_ENST00000333891.8_Silent_p.Q744Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 690 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGGCCTTGTCCTGCTCAGATG 0.517000 14 40 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111217391 111217393 + In_Frame_Del DEL GGC GGC - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr1:111217391_111217393delGGC ENST00000369769.2 - 1 262_264 c.39_41delGCC c.(37-42)ccc>cc p.PP13del NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 13 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGGCTGAGGGCGGCGGCGGCG 0.768 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 60303300 60303301 + RNA DEL AC AC - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr2:60303300_60303301delAC ENST00000606382.1 - 0 110 gaacacatggacacagggaggg 0.500 2 4 --- --- --- --- RP11-550I24.2 0 broad.mit.edu 37 3 156916153 156916153 + RNA DEL A A - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:156916153delA ENST00000488040.1 + 0 43 RP11-550I24.2_ENST00000487238.1_RNA ctcatgttctaaaattgtgca 0.378 2 4 --- --- --- --- SLC51A 200931 broad.mit.edu 37 3 195955100 195955102 + In_Frame_Del DEL CTG CTG - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr3:195955100_195955102delCTG ENST00000296327.5 + 5 686_688 c.477_479delCTG c.(475-480)ccc>cc p.PC159del NM_152672.5 NP_689885.4 solute carrier family 51, alpha subunit ACACAGGCCCctgctgctgctgc 0.665 7 201 --- --- --- --- AF146191.4 0 broad.mit.edu 37 4 190767268 190767268 + RNA DEL C C - rs67659129 TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr4:190767268delC ENST00000511785.1 - 0 425 ATTCTCCGTGCCGTGTCCCTC 0.627 2 4 --- --- --- --- RP1-290I10.3 0 broad.mit.edu 37 6 10423824 10423825 + RNA INS - - TGTG rs61052278 TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr6:10423824_10423825insTGTG ENST00000420389.1 - 0 175 TGGAGAACTGCtgtgtgtgtgt 0.490 2 4 --- --- --- --- RP11-706C16.8 0 broad.mit.edu 37 8 143889647 143889649 + RNA DEL GCA GCA - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr8:143889647_143889649delGCA ENST00000510610.2 + 0 216 GGGCAGGGTCGCAGCAGCAGCAG 0.631 2 4 --- --- --- --- ATP8B5P 0 broad.mit.edu 37 9 35450411 35450411 + RNA DEL T T - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr9:35450411delT ENST00000430846.1 + 0 3261 TGACTTGAGGTTTTTTTTTCC 0.343 2 4 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66462287 66462288 + RNA INS - - A TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr9:66462287_66462288insA ENST00000424345.1 + 0 224 gggctttttgggggttggtagg 0.391 2 4 --- --- --- --- IL18BP 10068 broad.mit.edu 37 11 71712330 71712332 + In_Frame_Del DEL ATT ATT - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr11:71712330_71712332delATT ENST00000497194.2 + 3 1691_1693 c.319_321delATT c.(319-321)del p.I107del IL18BP_ENST00000260049.5_In_Frame_Del_p.I107del|IL18BP_ENST00000393703.4_In_Frame_Del_p.I107del|IL18BP_ENST00000531053.1_In_Frame_Del_p.I107del|IL18BP_ENST00000393705.4_In_Frame_Del_p.I107del|IL18BP_ENST00000393707.4_Intron|IL18BP_ENST00000337131.5_In_Frame_Del_p.I107del|IL18BP_ENST00000404792.1_In_Frame_Del_p.I107del O95998 I18BP_HUMAN interleukin 18 binding protein 107 Ig-like C2-type. T-helper 1 type immune response extracellular region interleukin-18 binding|receptor antagonist activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1) 7 TGGTTCCTTCATTGAGCACCTCC 0.611 30 26 --- --- --- --- AP002954.4 0 broad.mit.edu 37 11 118580965 118580966 + RNA INS - - TTTA rs139437602 by1000genomes TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr11:118580965_118580966insTTTA ENST00000526274.1 + 0 374 agccCCCCGACtttatttttga 0.530 3 3 --- --- --- --- CTD-2314B22.3 0 broad.mit.edu 37 14 19891054 19891055 + RNA DEL CT CT - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:19891054_19891055delCT ENST00000552602.1 - 0 293 tacacacacactcacactaaca 0.525 4 6 --- --- --- --- RP3-514A23.2 0 broad.mit.edu 37 14 73041049 73041049 + RNA DEL G G - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr14:73041049delG ENST00000555303.1 - 0 451 GCCTCCTCCCGCCCCCTCCAC 0.592 2 4 --- --- --- --- RP11-44L9.1 0 broad.mit.edu 37 16 73517967 73517967 + RNA DEL G G - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr16:73517967delG ENST00000557393.1 + 0 117 AGGAGGGTCCGGGGGGAAGAG 0.517 2 4 --- --- --- --- ANKFY1 51479 broad.mit.edu 37 17 4071081 4071086 + In_Frame_Del DEL CCCCAC CCCCAC - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr17:4071081_4071086delCCCCAC ENST00000341657.4 - 25 3532_3537 c.3497_3502delGTGGGG c.(3496-3504)gtt>g p.GGV1166del ANKFY1_ENST00000574367.1_In_Frame_Del_p.GGV1167del|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_In_Frame_Del_p.GGV1208del NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 1166 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CACTAAGAAACCCCACCCAGAGTCAG 0.544 19 4 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7577134 7577134 + Frame_Shift_Del DEL G G - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr17:7577134delG ENST00000420246.2 - 8 936 c.804delC c.(802-804)aafs p.N268fs TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.N268fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N268fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N268fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 268 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> Y (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.N268N(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.L265_K305del41(1)|p.E258fs*71(1)|p.G266_N268delGRN(1)|p.G262fs*2(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CCTCAAAGCTGTTCCGTCCCA 0.537 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 16 2 --- --- --- --- RP1-41C23.1 0 broad.mit.edu 37 17 29921885 29921886 + RNA INS - - TTGT rs139893247 by1000genomes TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr17:29921885_29921886insTTGT ENST00000578650.1 + 0 232 AAGGCtgtttgttgtttgtttg 0.485 4 2 --- --- --- --- ZCCHC3 85364 broad.mit.edu 37 20 278688 278690 + In_Frame_Del DEL CGG CGG - rs63544660 TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr20:278688_278690delCGG ENST00000382352.3 + 1 952_954 c.461_463delCGG c.(460-465)ccg>c p.PA154del NM_033089.6 NP_149080.2 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 154 nucleic acid binding|zinc ion binding p.A159delA(3) endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGATGAgccggcggcggcggc 0.768 4 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11057307 11057308 + RNA INS - - A rs76234576 TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr21:11057307_11057308insA ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAGAAGATAGGAAAAAAAGCTT 0.342 4 6 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11062428 11062429 + RNA DEL TG TG - rs113753618 TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chr21:11062428_11062429delTG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CATTTATGTATGTGTGTGTGTG 0.297 2 4 --- --- --- --- GPRASP1 9737 broad.mit.edu 37 X 101912011 101912011 + Frame_Shift_Del DEL G G - TCGA-N6-A4VE-01A-11D-A28R-08 TCGA-N6-A4VE-11A-12D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 23e46a5d-8da7-43a0-b4a3-63dcc11fd071 aa58534e-57ed-44dd-be20-6f4a4ff1d11e g.chrX:101912011delG ENST00000537097.1 + 6 3983 c.3170delG c.(3169-3171)tgfs p.W1057fs GPRASP1_ENST00000415986.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000444152.1_Frame_Shift_Del_p.W1057fs|GPRASP1_ENST00000361600.5_Frame_Shift_Del_p.W1057fs|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 1057 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCTGGTCCATGGGGTAGGGTC 0.517 104 135 --- --- --- ---