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 MSLNL 401827 broad.mit.edu 37 16 830799 830799 + Missense_Mutation SNP T T G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr16:830799T>G ENST00000293892.3 - 3 201 c.202A>C c.(202-204)Acc>Ccc p.T68P MSLNL_ENST00000442466.1_Intron Q96KJ4 MSLNL_HUMAN mesothelin-like 0 cell adhesion integral to membrane breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 36 TGTGCACGGGTAGGTGACAGC 0.592000 5 237 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123302544 123302544 + Missense_Mutation SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr7:123302544C>T ENST00000458573.2 + 2 1061 c.904C>T c.(904-906)Cgt>Tgt p.R302C LMOD2_ENST00000456238.2_Intron NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 302 cytoskeleton actin binding|tropomyosin binding CACGGAGCTGCGTTTCCATAA 0.537000 5 147 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72316192 72316192 + Missense_Mutation SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr11:72316192C>T ENST00000334456.5 - 4 558 c.313G>A c.(313-315)Ggg>Agg p.G105R PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000418754.2_Intron|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 105 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) CGGACTTTCCCCTCCTGGGGC 0.572000 23 46 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108409780 108409780 + Silent SNP A A G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr11:108409780A>G ENST00000265843.4 - 3 524 c.414T>C c.(412-414)acT>acC p.T138T EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000428840.1_Silent_p.T62T NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 138 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GAAGCTTTGAAGTCTCCTTTC 0.443000 84 119 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68274236 68274236 + Silent SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr14:68274236C>T ENST00000347230.4 - 5 903 c.765G>A c.(763-765)cgG>cgA p.R255R ZFYVE26_ENST00000555452.1_Silent_p.R255R NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 255 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCCGCTCCTCCCGCAGGGGAC 0.622000 33 42 0 0 1 0 0 PDS5A 23244 broad.mit.edu 37 4 39911877 39911877 + Silent SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr4:39911877C>T ENST00000303538.8 - 10 1613 c.1074G>A c.(1072-1074)gcG>gcA p.A358A PDS5A_ENST00000503396.1_Silent_p.A358A NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 358 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 TGAGATCCTTCGCTAAATCTG 0.343000 3 9 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 114 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3424149 3424149 + RNA SNP C C T rs112841660 TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr11:3424149C>T ENST00000529482.1 + 0 808 TCATAGAGGACGAAGACTTCT 0.562000 3 46 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197791237 197791237 + Missense_Mutation SNP T T C rs149238260 TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:197791237T>C ENST00000354764.3 - 1 218 c.104A>G c.(103-105)aAt>aGt p.N35S PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 35 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 ACTGCACTTATTCTCCTCGAA 0.522000 6 460 0 0 1 0 0 PPIC 5480 broad.mit.edu 37 5 122361500 122361500 + Silent SNP A A G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr5:122361500A>G ENST00000306442.4 - 4 604 c.489T>C c.(487-489)ttT>ttC p.F163F NM_000943.4 NP_000934.1 P45877 PPIC_HUMAN peptidylprolyl isomerase C (cyclophilin C) 163 PPIase cyclophilin-type. protein folding|signal transduction cytoplasm cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 6 all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505) L-Proline(DB00172) TGACTTTTCCAAACACCACAT 0.403000 60 73 0 0 1 0 0 DNM1L 10059 broad.mit.edu 37 12 32884346 32884346 + Silent SNP G G A TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr12:32884346G>A ENST00000452533.2 + 11 1421 c.1257G>A c.(1255-1257)cgG>cgA p.R419R DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000414834.2_Silent_p.R216R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000358214.5_Silent_p.R432R NM_012062.3|NM_012063.2 NP_036192.2|NP_036193.2 O00429 DNM1L_HUMAN dynamin 1-like 419 Middle domain. cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TGGTGAAGCGGCAAATCAAAC 0.418000 4 200 0 0 1 0 0 HEATR5B 54497 broad.mit.edu 37 2 37229591 37229591 + Silent SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:37229591C>T ENST00000233099.5 - 32 5270 c.5175G>A c.(5173-5175)cgG>cgA p.R1725R HEATR5B_ENST00000354531.2_Intron NM_019024.1 NP_061897.1 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 1725 binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 77 all_hematologic(82;0.21) GTGGCATATGCCGTACTAAAA 0.478000 5 232 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209165737 209165737 + Missense_Mutation SNP A A G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:209165737A>G ENST00000264380.4 + 9 1285 c.1127A>G c.(1126-1128)tAc>tGc p.Y376C PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 376 DEP. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GATCACCGCTACTGGTTGAGA 0.438000 64 86 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7982176 7982176 + Missense_Mutation SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr20:7982176C>T ENST00000246024.2 - 3 520 c.305G>A c.(304-306)cGc>cAc p.R102H TMX4_ENST00000530935.1_5'UTR NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 102 Thioredoxin. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 GACAAAGAAGCGGCCACTCAA 0.323000 11 21 0 0 1 0 0 KAT6B 23522 broad.mit.edu 37 10 76784828 76784828 + Missense_Mutation SNP A A G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr10:76784828A>G ENST00000287239.4 + 17 3974 c.3485A>G c.(3484-3486)aAc>aGc p.N1162S KAT6B_ENST00000372714.1_Missense_Mutation_p.N870S|KAT6B_ENST00000372711.1_Missense_Mutation_p.N979S|KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372725.1_Missense_Mutation_p.N870S|RP11-77G23.2_ENST00000413431.1_RNA|KAT6B_ENST00000372724.1_Missense_Mutation_p.N870S NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 1162 histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding CCCTTTGACAACTCAGATGAA 0.483000 46 36 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42791718 42791718 + Missense_Mutation SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr19:42791718C>T ENST00000572681.2 + 6 3399 c.3331C>T c.(3331-3333)Cgg>Tgg p.R1111W CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W Q96RK0 CIC_HUMAN capicua transcriptional repressor 202 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding p.R202W(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCACATCCGGCGGCCCATGAA 0.622000 """Mis, F, S""" oligodendroglioma 39 28 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55399014 55399014 + Missense_Mutation SNP G G A rs150268416 TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr18:55399014G>A ENST00000536015.1 - 2 145 c.26C>T c.(25-27)aCg>aTg p.T9M ATP8B1_ENST00000283684.4_Missense_Mutation_p.T9M|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA NM_005603.4 NP_005594.1 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 9 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) GTCAAATGTCGTTTCTGAGTC 0.428000 6 329 0 0 1 0 0 PGAP1 80055 broad.mit.edu 37 2 197791240 197791240 + Missense_Mutation SNP T T C TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:197791240T>C ENST00000354764.3 - 1 215 c.101A>G c.(100-102)gAg>gGg p.E34G PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G|PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron NM_024989.3 NP_079265.2 Q75T13 PGAP1_HUMAN post-GPI attachment to proteins 1 34 attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1) 40 GCACTTATTCTCCTCGAAGCC 0.522000 6 462 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 6 117 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 109 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 60 81 0 0 1 0 0 CLIP1 6249 broad.mit.edu 37 12 122817533 122817533 + Splice_Site SNP C C T TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr12:122817533C>T ENST00000358808.2 - 14 2989 c.e14+1 CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site NM_001247997.1|NM_002956.2 NP_001234926.1|NP_002947.1 P30622 CLIP1_HUMAN CAP-GLY domain containing linker protein 1 mitotic prometaphase|positive regulation of microtubule polymerization centrosome|cytosol|endosome|intermediate filament|kinetochore nucleic acid binding|protein homodimerization activity|zinc ion binding NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226) GTCACATATACCTTTCTTTCA 0.393000 27 51 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96525717 96525718 + Frame_Shift_Ins INS - - T rs77057279 by1000genomes TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr2:96525717_96525718insT ENST00000456556.1 - 61 3871_3872 c.3787_3788insA c.(3787-3789)gaafs p.E1263fs ANKRD36C_ENST00000419039.2_Frame_Shift_Ins_p.E290fs|ANKRD36C_ENST00000420871.2_Frame_Shift_Ins_p.E514fs ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 CTTATTTTTCAGTTTTCGAATT 0.282 4 7 --- --- --- --- ANKRD30A 91074 broad.mit.edu 37 10 37418878 37418881 + Frame_Shift_Del DEL AGAC AGAC - TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr10:37418878_37418881delAGAC ENST00000374660.1 + 2 210_213 c.111_114delAGAC c.(109-114)gtfs p.VD37fs ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.VD37fs Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 93 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CATTTCTGGTAGACAGAAAGTGCC 0.456 24 59 --- --- --- --- VWCE 220001 broad.mit.edu 37 11 61049329 61049329 + Frame_Shift_Del DEL T T - TCGA-S9-A6WE-01A-12D-A33T-08 TCGA-S9-A6WE-10A-01D-A33W-08 Untested Somatic Phase_I WXS none Illumina GAIIx bc116e35-9224-47ce-a37e-a8adbf2b3be5 fdf5aabf-afa2-401d-a368-15b5ad44eb7c g.chr11:61049329delT ENST00000335613.5 - 7 1102 c.716delA c.(715-717)acfs p.N239fs NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 239 EGF-like 4; calcium-binding (Potential). extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCCCACGGTGTTGTGGCAGGA 0.627 52 102 --- --- --- ---