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 KLHDC7A 127707 broad.mit.edu 37 1 18809360 18809360 + Missense_Mutation SNP G G A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:18809360G>A ENST00000400664.1 + 1 1937 c.1885G>A c.(1885-1887)Gcc>Acc p.A629T NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 629 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGCGCACACGGCCACGGTGCG 0.692 11 25 --- --- --- --- ITLN1 55600 broad.mit.edu 37 1 160849127 160849127 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:160849127T>C ENST00000326245.3 - 7 878 c.763A>G c.(763-765)Agg>Ggg p.R255G ITLN1_ENST00000487531.1_5'UTR NM_017625.2 NP_060095.2 Q8WWA0 ITLN1_HUMAN intelectin 1 (galactofuranose binding) 255 Fibrinogen C-terminal. positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction anchored to membrane|brush border membrane|extracellular region|membrane raft receptor binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 21 all_cancers(52;2.99e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CCGGTGACCCTCATTCCAGCA 0.502 3 129 --- --- --- --- CHL1 10752 broad.mit.edu 37 3 439982 439982 + Missense_Mutation SNP G G T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:439982G>T ENST00000256509.2 + 25 3809 c.3167G>T c.(3166-3168)gGa>gTa p.G1056V CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V NM_001253387.1|NM_001253388.1|NM_006614.3 NP_001240316.1|NP_001240317.1|NP_006605.2 O00533 CHL1_HUMAN cell adhesion molecule L1-like 1040 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TTTGAGCCGGGAGCTGAACAT 0.383 6 63 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10320072 10320072 + Silent SNP C C A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:10320072C>A ENST00000287652.4 + 6 3122 c.2071C>A c.(2071-2073)Cgg>Agg p.R691R TATDN2_ENST00000448281.2_Silent_p.R691R|TATDN2_ENST00000496355.1_3'UTR|RP11-438J1.1_ENST00000450534.1_3'UTR NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 691 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 CTGGGAGGCCCGGGAAGCCTT 0.587 4 290 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123419029 123419029 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:123419029T>C ENST00000360772.3 - 19 3664 c.3286A>G c.(3286-3288)Aca>Gca p.T1096A MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A Q15746 MYLK_HUMAN myosin light chain kinase 1096 Actin-binding (calcium/calmodulin- insensitive) (By similarity). aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GCTGGGGCTGTCCCCTGGCTC 0.517 3 143 --- --- --- --- PLEKHG4B 153478 broad.mit.edu 37 5 163530 163530 + Missense_Mutation SNP A A C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr5:163530A>C ENST00000283426.6 + 11 2325 c.2275A>C c.(2275-2277)Agc>Cgc p.S759R NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 759 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) GGAGGTAACCAGCACTGTAGC 0.622 44 82 --- --- --- --- BAI3 577 broad.mit.edu 37 6 69348840 69348840 + Missense_Mutation SNP T T A TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr6:69348840T>A ENST00000370598.1 + 3 1094 c.273T>A c.(271-273)gaT>gaA p.D91E NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 91 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATCAGTTTGATCATTTTTCCC 0.338 22 53 --- --- --- --- PSMA2 5683 broad.mit.edu 37 7 42957400 42957400 + Missense_Mutation SNP G G C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr7:42957400G>C ENST00000442788.1 - 7 580 c.565C>G c.(565-567)Cat>Gat p.H189D PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D P25787 PSA2_HUMAN proteasome (prosome, macropain) subunit, alpha type, 2 189 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 ATGGCTGTATGAATGGCATCT 0.279 10 36 --- --- --- --- CLCN3P1 100419056 broad.mit.edu 37 9 15047932 15047932 + RNA SNP G G T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr9:15047932G>T ENST00000609203.1 - 0 728 CATTTTTCTTGCACCCAGTCA 0.323 3 38 --- --- --- --- MAPKAP1 79109 broad.mit.edu 37 9 128321994 128321994 + Missense_Mutation SNP T T G TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr9:128321994T>G ENST00000265960.3 - 6 1098 c.766A>C c.(766-768)Aag>Cag p.K256Q MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q NM_001006617.1 NP_001006618.1 Q9BPZ7 SIN1_HUMAN mitogen-activated protein kinase associated protein 1 256 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane Ras GTPase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3) 23 AAGCCAAACTTATGAATGGGC 0.473 19 60 --- --- --- --- PRTFDC1 56952 broad.mit.edu 37 10 25160963 25160963 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:25160963T>C ENST00000320152.6 - 4 397 c.369A>G c.(367-369)atA>atG p.I123M PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M NM_020200.5 NP_064585.1 Q9NRG1 PRDC1_HUMAN phosphoribosyl transferase domain containing 1 123 adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development cytosol hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 CGCCTCCGATTATCTGCATCT 0.448 18 244 --- --- --- --- CUBNP3 100421634 broad.mit.edu 37 10 45644356 45644356 + RNA SNP T T G TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:45644356T>G ENST00000427229.2 + 0 527 GAGTTTCGAGTGGGTGAGTTC 0.353 10 19 --- --- --- --- PHYHIPL 84457 broad.mit.edu 37 10 60994191 60994191 + Silent SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr10:60994191T>C ENST00000373880.4 + 2 498 c.234T>C c.(232-234)gaT>gaC p.D78D PHYHIPL_ENST00000373878.3_Silent_p.D52D NM_032439.3 NP_115815.2 Q96FC7 PHIPL_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein-like 78 Fibronectin type-III. NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1) 18 AATCAAAGGATCGCATTACAC 0.323 31 49 --- --- --- --- NLRX1 79671 broad.mit.edu 37 11 119043649 119043649 + Silent SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr11:119043649T>C ENST00000409109.1 + 4 767 c.180T>C c.(178-180)gcT>gcC p.A60A NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000474751.2_3'UTR NM_001282144.1 NP_001269073.1 Q86UT6 NLRX1_HUMAN NLR family member X1 60 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) TAGATAGCGCTCCCCCACCCG 0.632 3 84 --- --- --- --- PVRL1 5818 broad.mit.edu 37 11 119548471 119548471 + Missense_Mutation SNP T T C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr11:119548471T>C ENST00000264025.3 - 3 1057 c.527A>G c.(526-528)aAt>aGt p.N176S PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S NM_002855.4 NP_002846.3 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 (herpesvirus entry mediator C) 176 Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) AGGCTTCCCATTGGCTGAGGT 0.577 20 21 --- --- --- --- DHH 50846 broad.mit.edu 37 12 49484963 49484963 + Missense_Mutation SNP G G T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr12:49484963G>T ENST00000266991.2 - 2 819 c.513C>A c.(511-513)ttC>ttA p.F171L RP11-386G11.8_ENST00000553174.1_RNA NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 171 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 AGACCCAGTCGAAGCCGGCTT 0.597 4 163 --- --- --- --- MFSD5 84975 broad.mit.edu 37 12 53646693 53646693 + Missense_Mutation SNP G G C TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr12:53646693G>C ENST00000534842.1 + 2 542 c.395G>C c.(394-396)cGg>cCg p.R132P MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P NM_001170790.1 NP_001164261.1 Q6N075 MFSD5_HUMAN major facilitator superfamily domain containing 5 25 transport integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1) 16 TCAAGATGCCGGGCTAAACCC 0.597 25 120 --- --- --- --- PIWIL3 440822 broad.mit.edu 37 22 25155922 25155922 + Missense_Mutation SNP C C T rs138064276 TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr22:25155922C>T ENST00000332271.5 - 3 553 c.137G>A c.(136-138)cGg>cAg p.R46Q PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000527701.1_5'UTR NM_001008496.3|NM_001255975.1 NP_001008496.2|NP_001242904.1 Q7Z3Z3 PIWL3_HUMAN piwi-like RNA-mediated gene silencing 3 46 cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTGCAGCGGCCGGGGTGTCGA 0.547 116 250 --- --- --- --- PFKFB1 5207 broad.mit.edu 37 X 54989709 54989709 + Nonsense_Mutation SNP C C T TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chrX:54989709C>T ENST00000375006.3 - 2 274 c.204G>A c.(202-204)tgG>tgA p.W68* PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68* NM_002625.2 NP_002616.2 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 68 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 GTGTTCCTATCCAGTTGAGAT 0.453 58 51 --- --- --- --- DOCK7 85440 broad.mit.edu 37 1 63099200 63099216 + Frame_Shift_Del DEL TATGGTTCTGCACACTC TATGGTTCTGCACACTC - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr1:63099200_63099216delTATGGTTCTGCACACTC ENST00000251157.5 - 10 1102_1118 c.1069_1085delGAGTGTGCAGAACCATA c.(1069-1086)gagtgtgcagaaccatatfs p.ECAEPY357fs DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 357 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT 0.364 13 186 --- --- --- --- ETAA1 54465 broad.mit.edu 37 2 67631946 67631946 + Frame_Shift_Del DEL A A - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr2:67631946delA ENST00000272342.5 + 5 2262 c.2132delA c.(2131-2133)caafs p.Q711fs ETAA1_ENST00000462772.1_Intron NM_019002.3 NP_061875.2 Q9NY74 ETAA1_HUMAN Ewing tumor-associated antigen 1 711 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 AATAGCTCACAAATAGATAAG 0.348 16 86 --- --- --- --- RYK 6259 broad.mit.edu 37 3 133896849 133896850 + Frame_Shift_Del DEL AT AT - TCGA-HC-7736-01A-11D-2114-08 TCGA-HC-7736-10A-01D-2115-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8a89d72e-a967-40b5-a8eb-0d4ccd8615ce ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa g.chr3:133896849_133896850delAT ENST00000427044.2 - 12 1283_1284 c.673_674delAT c.(673-675)atgfs p.M225fs RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs P34925 RYK_HUMAN receptor-like tyrosine kinase 411 corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway cytoplasm|integral to plasma membrane|nucleus ATP binding|transmembrane receptor protein tyrosine kinase activity lung(1)|ovary(3) 4 CCCCCAATTCATGTAAGGCAAT 0.337 13 32 --- --- --- ---