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 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 122 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 40 49 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 4 56 0 0 1 0 0 EPS8L2 64787 broad.mit.edu 37 11 721659 721659 + Missense_Mutation SNP A A G TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:721659A>G ENST00000533256.1 + 11 1238 c.863A>G c.(862-864)aAg>aGg p.K288R EPS8L2_ENST00000526198.1_Missense_Mutation_p.K304R|EPS8L2_ENST00000530636.1_Missense_Mutation_p.K288R|EPS8L2_ENST00000318562.8_Missense_Mutation_p.K288R|AP006621.9_ENST00000527021.2_RNA Q9H6S3 ES8L2_HUMAN EPS8-like 2 288 cytoplasm NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCGGAAAAAGGGGAAGAAG 0.657000 3 39 0 0 1 0 0 GOT1 2805 broad.mit.edu 37 10 101157431 101157431 + Missense_Mutation SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr10:101157431T>C ENST00000370508.5 - 9 1142 c.1115A>G c.(1114-1116)gAg>gGg p.E372G GOT1_ENST00000543866.1_Missense_Mutation_p.E351G NM_002079.2 NP_002070.1 P17174 AATC_HUMAN glutamic-oxaloacetic transaminase 1, soluble 372 aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus cytosol L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2) 16 Ovarian(717;0.028)|Colorectal(252;0.234) Epithelial(162;4.76e-10)|all cancers(201;3.84e-08) L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GACCAGATACTCAACCTGCTT 0.443000 4 52 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23531643 23531643 + Silent SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr14:23531643T>C ENST00000262710.1 - 15 3474 c.3147A>G c.(3145-3147)aaA>aaG p.K1049K ACIN1_ENST00000397341.3_Silent_p.K291K|ACIN1_ENST00000557515.1_Silent_p.K290K|ACIN1_ENST00000357481.2_Silent_p.K291K|ACIN1_ENST00000338631.6_Silent_p.K322K|ACIN1_ENST00000555053.1_Silent_p.K1036K|ACIN1_ENST00000457657.1_Silent_p.K1009K|ACIN1_ENST00000605057.1_Silent_p.K991K NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1049 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGCAATGAGATTTGATCTTGT 0.478000 91 148 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 69 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67802021 67802021 + Silent SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr13:67802021C>T ENST00000544246.1 - 2 1243 c.552G>A c.(550-552)ggG>ggA p.G184G PCDH9_ENST00000377865.2_Silent_p.G184G|PCDH9_ENST00000377861.3_Silent_p.G184G|PCDH9_ENST00000328454.5_Silent_p.G184G|PCDH9_ENST00000456367.1_Silent_p.G184G NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAACACTCTGCCCATTTAACA 0.428000 4 169 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203453039 203453039 + Missense_Mutation SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr1:203453039G>A ENST00000343110.2 + 2 854 c.727G>A c.(727-729)Gcc>Acc p.A243T NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 243 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) GGTCCCCACCGCCATTCACCA 0.532000 45 111 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 6 438 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784468 82784468 + Missense_Mutation SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr7:82784468C>T ENST00000423517.2 - 2 1826 c.1489G>A c.(1489-1491)Gca>Aca p.A497T PCLO_ENST00000333891.8_Missense_Mutation_p.A497T NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 443 10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|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 GGGGGCTTTGCTGAGCCAGGC 0.612000 4 208 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323276 15323276 + RNA SNP A A T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr18:15323276A>T ENST00000455308.2 - 0 572 NR_027417.1 ATCAACTGCAATTGCATTTGC 0.308000 3 22 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535468 90535468 + RNA SNP T T C TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr9:90535468T>C ENST00000602681.1 + 0 1372 ACCTGCACTTTTCCCTCACCC 0.612000 5 298 0 0 1 0 0 GLTSCR2 29997 broad.mit.edu 37 19 48255821 48255821 + Missense_Mutation SNP C C T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr19:48255821C>T ENST00000246802.5 + 6 760 c.722C>T c.(721-723)gCg>gTg p.A241V GLTSCR2_ENST00000598681.1_3'UTR NM_015710.4 NP_056525.2 Q9NZM5 GSCR2_HUMAN glioma tumor suppressor candidate region gene 2 241 nucleolus central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 15 all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278) GTGGAGGTGGCGCCTGCCGGA 0.667000 3 47 0 0 1 0 0 CHRM4 1132 broad.mit.edu 37 11 46408059 46408059 + Missense_Mutation SNP G G A TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr11:46408059G>A ENST00000433765.2 - 1 48 c.49C>T c.(49-51)Cgc>Tgc p.R17C NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 17 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GTGACCAGGCGCACGGACTGA 0.577000 4 127 0 0 1 0 0 GPRC5B 51704 broad.mit.edu 37 16 19873270 19873270 + Silent SNP G G A rs146737474 byFrequency TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr16:19873270G>A ENST00000300571.2 - 3 1247 c.1056C>T c.(1054-1056)aaC>aaT p.N352N GPRC5B_ENST00000569847.1_Silent_p.N352N|GPRC5B_ENST00000569479.1_Silent_p.N352N|GPRC5B_ENST00000535671.1_Silent_p.N352N|GPRC5B_ENST00000537135.1_Silent_p.N378N NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 352 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCAAGCTGCCGTTGGGAAATC 0.517000 4 64 0 0 1 0 0 HMCES 56941 broad.mit.edu 37 3 129007830 129007830 + Missense_Mutation SNP G G T rs114856369 by1000genomes TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr3:129007830G>T ENST00000383463.4 + 3 406 c.317G>T c.(316-318)cGg>cTg p.R106L C3orf37_ENST00000389735.3_Missense_Mutation_p.R106L|C3orf37_ENST00000417226.2_Missense_Mutation_p.R106L|C3orf37_ENST00000502878.2_Missense_Mutation_p.R106L NM_020187.2 NP_064572.2 Q96FZ2 CC037_HUMAN 106 breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4) 14 ATGGAGAAACGGTCATTTAAG 0.468000 3 46 0.115264 0.115264 1 1 0 PEX10 5192 broad.mit.edu 37 1 2340298 2340299 + Splice_Site INS - - T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr1:2340298_2340299insT ENST00000288774.3 - 3 221 c.e3-1 PEX10_ENST00000515760.1_Splice_Site|PEX10_ENST00000507596.1_Splice_Site|PEX10_ENST00000447513.2_Splice_Site NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) GTCTGGTAGCCTGCGAGGAAGA 0.663 14 5 --- --- --- --- LINC00570 100874055 broad.mit.edu 37 2 11542812 11542814 + RNA DEL CCA CCA - TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr2:11542812_11542814delCCA ENST00000417473.2 + 0 939_941 NR_047499.1 gccatcaccgccaccaccaccac 0.586 4 6 --- --- --- --- IGHV4-61 28391 broad.mit.edu 37 14 107095573 107095573 + RNA DEL G G - TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr14:107095573delG ENST00000390630.2 - 0 89 TTCTTGCACAGGAGGTCCAGG 0.507 9 60 --- --- --- --- ULK4P3 89837 broad.mit.edu 37 15 30406088 30406089 + RNA INS - - T TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr15:30406088_30406089insT ENST00000568486.1 + 0 402 NR_026859.1 TGCCTCAAAAGTTTTTTTTTTT 0.297 7 20 --- --- --- --- LOC101927755 101927755 broad.mit.edu 37 17 58066608 58066608 + RNA DEL T T - TCGA-SR-A6MY-01A-11D-A35I-08 TCGA-SR-A6MY-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5eef7f6e-b52f-45d4-9482-4b3f926d8bbb fa3d968f-2b1c-4658-b96b-36ee5a79b860 g.chr17:58066608delT ENST00000586209.1 + 0 158 TTGATTGTGATTTTTTTTTTT 0.313 4 5 --- --- --- ---