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 TRAK2 66008 broad.mit.edu 37 2 202272251 202272251 + Missense_Mutation SNP T T A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr2:202272251T>A ENST00000332624.3 - 3 589 c.161A>T c.(160-162)tAt>tTt p.Y54F TRAK2_ENST00000430254.1_Missense_Mutation_p.Y54F NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 54 early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 TTTTAGCCTATACTGTGGTAG 0.448000 18 46 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 67 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23456408 23456408 + Silent SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr16:23456408G>A ENST00000307149.5 - 3 581 c.396C>T c.(394-396)agC>agT p.S132S NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 132 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) CGCTCAACGTGCTCCACTTAT 0.448000 29 92 0 0 1 0 0 CTDSP2 10106 broad.mit.edu 37 12 58217721 58217721 + Missense_Mutation SNP G G C TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr12:58217721G>C ENST00000398073.2 - 7 959 c.656C>G c.(655-657)tCg>tGg p.S219W CTDSP2_ENST00000547701.1_Missense_Mutation_p.S67W|CTDSP2_ENST00000548823.1_Missense_Mutation_p.S46W NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 219 FCP1 homology. protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) AGAAGCAGGCGAGTTGTCCAG 0.582000 6 18 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 24 0 0 1 0 0 IRX6 79190 broad.mit.edu 37 16 55361281 55361281 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr16:55361281C>T ENST00000290552.7 + 3 1709 c.377C>T c.(376-378)cCc>cTc p.P126L IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 126 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P126L(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 GCCTATTATCCCTATGAGCGG 0.512000 14 48 0 0 1 0 0 GPR135 64582 broad.mit.edu 37 14 59930963 59930963 + Missense_Mutation SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr14:59930963G>A ENST00000395116.1 - 1 1097 c.982C>T c.(982-984)Cgc>Tgc p.R328C NM_022571.5 NP_072093.2 Q8IZ08 GP135_HUMAN G protein-coupled receptor 135 328 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.134) GTGGCCGTGCGCACCTCGCTG 0.672000 3 31 0 0 1 0 0 GDAP1 54332 broad.mit.edu 37 8 75263599 75263599 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr8:75263599C>T ENST00000220822.7 + 2 288 c.208C>T c.(208-210)Cgt>Tgt p.R70C GDAP1_ENST00000521096.1_Intron|GDAP1_ENST00000434412.2_Missense_Mutation_p.R2C NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 70 GST N-terminal. cytoplasm p.R70C(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) TTGGTTTATGCGTTTGAACTC 0.453000 4 180 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235834 23235834 + Missense_Mutation SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr14:23235834G>A ENST00000285848.5 + 1 104 c.104G>A c.(103-105)cGc>cAc p.R35H NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) CTTCATGCCCGCCTCCAAAAG 0.522000 4 137 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97141496 97141496 + Missense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr10:97141496C>A ENST00000371247.2 - 18 1788 c.1599G>T c.(1597-1599)aaG>aaT p.K533N SORBS1_ENST00000277982.5_Missense_Mutation_p.K555N|SORBS1_ENST00000371246.2_Missense_Mutation_p.K555N|SORBS1_ENST00000371245.3_Missense_Mutation_p.K418N|SORBS1_ENST00000371227.4_Missense_Mutation_p.K487N|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000354106.3_Missense_Mutation_p.K503N|SORBS1_ENST00000371249.2_Missense_Mutation_p.K455N|SORBS1_ENST00000607232.1_Missense_Mutation_p.K322N|SORBS1_ENST00000361941.3_Missense_Mutation_p.K533N|SORBS1_ENST00000393949.1_Missense_Mutation_p.K503N|SORBS1_ENST00000371239.1_Missense_Mutation_p.K332N|SORBS1_ENST00000371241.1_Missense_Mutation_p.K323N|SORBS1_ENST00000347291.4_Missense_Mutation_p.K401N|SORBS1_ENST00000306402.6_Missense_Mutation_p.K364N|SORBS1_ENST00000353505.5_Missense_Mutation_p.K418N Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 533 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) CGTAAATGCTCTTGGGCTCTG 0.398000 13 54 2.27111e-07 2.4686e-07 1 1 0 CDC73 79577 broad.mit.edu 37 1 193219826 193219826 + Nonsense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:193219826C>A ENST00000367435.3 + 17 1764 c.1580C>A c.(1579-1581)tCg>tAg p.S527* CDC73_ENST00000477868.1_3'UTR NM_024529.4 NP_078805.3 Q6P1J9 CDC73_HUMAN cell division cycle 73 527 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1) 87 AAGCATAAATCGCACTTGAGA 0.294000 4 40 0.014758 0.014758 1 1 0 MYO1H 283446 broad.mit.edu 37 12 109844593 109844593 + Splice_Site SNP G G A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr12:109844593G>A ENST00000310903.5 + 9 1021 c.e9-1 MYO1H_ENST00000542883.1_Splice_Site|MYO1H_ENST00000431443.2_Splice_Site B4DNW6 B4DNW6_HUMAN myosin IH myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TTTACATGCAGCTCCTGGGGG 0.433000 7 40 0 0 1 0 0 SLC9A8 23315 broad.mit.edu 37 20 48491289 48491289 + Missense_Mutation SNP C C A TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr20:48491289C>A ENST00000417961.1 + 11 1264 c.1054C>A c.(1054-1056)Cac>Aac p.H352N SLC9A8_ENST00000539601.1_Missense_Mutation_p.H117N|SLC9A8_ENST00000361573.2_Missense_Mutation_p.H336N|SLC9A8_ENST00000541138.1_Missense_Mutation_p.H36N NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 336 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CCACTACACGCACCATAACCT 0.557000 15 52 4.14922e-12 4.71502e-12 1 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 6 164 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27409416 27409416 + Silent SNP T T C TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr10:27409416T>C ENST00000326799.3 - 14 1678 c.1530A>G c.(1528-1530)aaA>aaG p.K510K YME1L1_ENST00000376016.3_Silent_p.K453K|YME1L1_ENST00000375972.3_Silent_p.K420K NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 510 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 CTGTTCGACCTTTTACATCTG 0.313000 3 58 0 0 1 0 0 ZNF182 7569 broad.mit.edu 37 X 47836774 47836774 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chrX:47836774C>T ENST00000396965.1 - 7 1062 c.712G>A c.(712-714)Gca>Aca p.A238T ZNF182_ENST00000376943.3_Missense_Mutation_p.A219T|ZNF182_ENST00000305127.6_Missense_Mutation_p.A238T NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TTCCTACATGCAGTACATTCA 0.418000 11 101 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 4 159 0 0 1 0 0 COG7 91949 broad.mit.edu 37 16 23456409 23456409 + Missense_Mutation SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr16:23456409C>T ENST00000307149.5 - 3 580 c.395G>A c.(394-396)aGc>aAc p.S132N NM_153603.3 NP_705831.1 P83436 COG7_HUMAN component of oligomeric golgi complex 7 132 intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.0401) GCTCAACGTGCTCCACTTATC 0.443000 29 89 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130068267 130068267 + Silent SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr11:130068267C>T ENST00000278742.5 + 13 1942 c.1524C>T c.(1522-1524)tgC>tgT p.C508C NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 508 LDL-receptor class A 2. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) TCTGGGTCTGCGACAGTGTGA 0.672000 4 125 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53728167 53728167 + Silent SNP C C T TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:53728167C>T ENST00000306052.6 - 11 1826 c.1725G>A c.(1723-1725)cgG>cgA p.R575R LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000465675.1_Silent_p.R128R|LRP8_ENST00000371454.2_Silent_p.R575R|LRP8_ENST00000354412.3_Silent_p.R446R|LRP8_ENST00000347547.2_Silent_p.R405R NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 575 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 CCAGTGTTTGCCGGTCCACAC 0.512000 4 145 0 0 1 0 0 SHISA4 149345 broad.mit.edu 37 1 201860531 201860531 + Missense_Mutation SNP C C G TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr1:201860531C>G ENST00000362011.6 + 4 669 c.382C>G c.(382-384)Cag>Gag p.Q128E SHISA4_ENST00000464117.1_3'UTR NM_198149.2 NP_937792.2 Q96DD7 SHSA4_HUMAN shisa family member 4 128 integral to membrane kidney(1)|lung(4) 5 CCATCTAGGCCAGGAGATTCC 0.592000 7 57 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104879687 104879687 + Frame_Shift_Del DEL T T - TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr11:104879687delT ENST00000393141.2 - 2 98 c.67delA c.(67-69)ggfs p.R24fs CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR NM_001136112.1|NM_004347.3 NP_001129584.1|NP_004338.3 P51878 CASP5_HUMAN caspase 5, apoptosis-related cysteine peptidase 11 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) TTCTTACGCCTTTTTTTTTTG 0.388 10 64 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 5 --- --- --- --- SHROOM4 57477 broad.mit.edu 37 X 50350711 50350713 + In_Frame_Del DEL TCC TCC - rs6614551 TCGA-WB-A816-01A-11D-A35I-08 TCGA-WB-A816-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4003517b-1cc1-4c57-9c73-a7c176de0186 1f70da4e-abdb-47c0-a442-869d91605e68 g.chrX:50350711_50350713delTCC ENST00000376020.2 - 6 3454_3456 c.3429_3431delGGA c.(3427-3432)gaa>ga p.EE1149del SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1149 Glu-rich. actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) ctcttcctcttcctcttcttctt 0.547 3 4 --- --- --- ---