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 LRP1B 53353 broad.mit.edu 37 2 141245239 141245239 + Nonsense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:141245239G>A ENST00000389484.3 - 58 10161 c.9190C>T c.(9190-9192)Cga>Tga p.R3064* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3064 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATTGGGTCGGCTAGAATCG 0.313000 TSP Lung(27;0.18) 3 77 0 0 1 0 0 KCNG1 3755 broad.mit.edu 37 20 49626483 49626483 + Silent SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr20:49626483C>T ENST00000371571.4 - 2 678 c.393G>A c.(391-393)ctG>ctA p.L131L KCNG1_ENST00000396017.3_Silent_p.L131L|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 131 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 TGCCCGCGCGCAGGAAGGTCA 0.642000 16 25 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237150049 237150049 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:237150049C>T ENST00000330842.6 - 1 209 c.115G>A c.(115-117)Gca>Aca p.A39T AC079135.1_ENST00000415226.1_RNA|ASB18_ENST00000409749.3_Intron Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box containing 18 68 intracellular signal transduction large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) AGGTCCCCTGCGACCAGGGCA 0.522000 12 20 0 0 1 0 0 NINJ1 4814 broad.mit.edu 37 9 95888798 95888798 + Silent SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr9:95888798G>A ENST00000375446.4 - 2 268 c.198C>T c.(196-198)gcC>gcT p.A66A NM_004148.3 NP_004139.2 Q92982 NINJ1_HUMAN ninjurin 1 66 cell adhesion|nervous system development|tissue regeneration integral to membrane kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 4 GTTCCACGACGGCCTTCAGCT 0.622000 6 57 0 0 1 0 0 EML4 27436 broad.mit.edu 37 2 42522547 42522547 + Missense_Mutation SNP G G T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:42522547G>T ENST00000318522.5 + 13 1642 c.1380G>T c.(1378-1380)caG>caT p.Q460H EML4_ENST00000401738.3_Missense_Mutation_p.Q471H|EML4_ENST00000402711.2_Missense_Mutation_p.Q402H NM_019063.3 NP_061936.2 Q9HC35 EMAL4_HUMAN echinoderm microtubule associated protein like 4 460 microtubule-based process|mitosis cytoplasm|microtubule protein binding EML4/ALK(543) NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 12 AATTTGTGCAGTGTTTAGCAT 0.358000 T ALK NSCLC 8 50 0.0692343 0.070351 1 1 0 TPO 7173 broad.mit.edu 37 2 1488493 1488493 + Silent SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:1488493C>T ENST00000345913.4 + 9 1555 c.1464C>T c.(1462-1464)gcC>gcT p.A488A TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Silent_p.A488A|TPO_ENST00000382198.1_Silent_p.A315A|TPO_ENST00000382201.3_Silent_p.A488A|TPO_ENST00000349624.3_Silent_p.A315A|TPO_ENST00000346956.3_Silent_p.A488A|TPO_ENST00000329066.4_Silent_p.A488A NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 488 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TCTCCACAGCCGCCTTCCGCT 0.662000 13 33 0 0 1 0 0 IGHV1-18 0 broad.mit.edu 37 14 106641640 106641640 + RNA SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:106641640C>T ENST00000390605.2 - 0 332 GTGGATGTGTCTGTGGTCATG 0.542000 79 158 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29614328 29614328 + Splice_Site SNP G G A rs137860963 by1000genomes TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr20:29614328G>A ENST00000278882.3 + 2 320 c.e2+1 FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TGATACGTTGGTGAGTCAGTT 0.289000 3 17 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215866294 215866294 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:215866294C>T ENST00000272895.7 - 21 3070 c.2851G>A c.(2851-2853)Gaa>Aaa p.E951K ABCA12_ENST00000389661.4_Missense_Mutation_p.E633K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 951 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CCAAAGAGTTCGTTGCTTTTG 0.383000 5 96 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30632730 30632730 + Missense_Mutation SNP T T C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr6:30632730T>C ENST00000376442.3 - 7 1360 c.1165A>G c.(1165-1167)Aaa>Gaa p.K389E NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 389 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 ATGGACTCTTTCTGCTGGGCC 0.552000 15 22 0 0 1 0 0 PTPRC 5788 broad.mit.edu 37 1 198725090 198725090 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:198725090G>A ENST00000367376.2 + 33 3866 c.3695G>A c.(3694-3696)gGa>gAa p.G1232E PTPRC_ENST00000352140.3_Missense_Mutation_p.G1184E|PTPRC_ENST00000594404.1_Missense_Mutation_p.G1071E|PTPRC_ENST00000348564.6_Missense_Mutation_p.G1073E|PTPRC_ENST00000442510.2_Missense_Mutation_p.G1234E NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1232 axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GCTCAGAATGGACAAGTAAAG 0.363000 24 44 0 0 1 0 0 UGT1A10 0 broad.mit.edu 37 2 234545792 234545792 + Missense_Mutation SNP G G T rs144759885 TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:234545792G>T ENST00000344644.5 + 1 693 c.624G>T c.(622-624)tgG>tgT p.W208C UGT1A10_ENST00000373445.1_Missense_Mutation_p.W208C|UGT1A8_ENST00000373450.4_Intron NM_019075.2 NP_061948.1 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3) 32 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008) AGAGAGTATGGAACCACATCG 0.458000 5 199 0.00116845 0.00122687 1 1 0 RRAS 6237 broad.mit.edu 37 19 50138860 50138860 + Silent SNP G G T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr19:50138860G>T ENST00000246792.3 - 6 732 c.630C>A c.(628-630)ggC>ggA p.G210G NM_006270.3 NP_006261.1 P10301 RRAS_HUMAN related RAS viral (r-ras) oncogene homolog 210 axon guidance|Ras protein signal transduction|synaptic transmission intracellular|plasma membrane GDP binding|GTP binding|GTPase activity|protein binding endometrium(1)|kidney(1)|lung(2)|ovary(2) 6 OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206) GGCAGCCCCCGCCCTTCTTCC 0.617000 20 62 0.000229342 0.00024489 1 1 0 HELB 92797 broad.mit.edu 37 12 66698594 66698594 + Missense_Mutation SNP G G C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr12:66698594G>C ENST00000247815.4 + 2 330 c.271G>C c.(271-273)Gta>Cta p.V91L NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 91 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GAGAGTGAAGGTACAAGTAAA 0.378000 12 66 0 0 1 0 0 MCM6 4175 broad.mit.edu 37 2 136623784 136623784 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:136623784C>T ENST00000264156.2 - 6 905 c.845G>A c.(844-846)cGa>cAa p.R282Q NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 282 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CCGGAGTCCTCGAATGCCTTC 0.488000 15 95 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16671017 16671017 + Missense_Mutation SNP C C A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr5:16671017C>A ENST00000513610.1 - 39 5955 c.5501G>T c.(5500-5502)cGa>cTa p.R1834L MYO10_ENST00000427430.2_Missense_Mutation_p.R1191L|MYO10_ENST00000515803.1_Missense_Mutation_p.R1173L|MYO10_ENST00000274203.9_Missense_Mutation_p.R1191L|MYO10_ENST00000505695.1_Missense_Mutation_p.R1173L NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 1834 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 ATACTGGAGTCGCAGGGCAGC 0.567000 6 18 1.6384e-10 1.81086e-10 1 1 0 IFIT5 24138 broad.mit.edu 37 10 91177745 91177745 + Missense_Mutation SNP T T A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr10:91177745T>A ENST00000371795.4 + 2 1002 c.789T>A c.(787-789)aaT>aaA p.N263K IFIT5_ENST00000416601.1_Missense_Mutation_p.N215K NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 263 binding endometrium(1)|large_intestine(4)|lung(4) 9 GGAGAAAAAATTCCTGGAACA 0.433000 12 63 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632713 158632713 + Missense_Mutation SNP T T C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:158632713T>C ENST00000368148.3 - 17 2423 c.2243A>G c.(2242-2244)gAc>gGc p.D748G SPTA1_ENST00000368147.3_Missense_Mutation_p.D748G NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 748 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TGCAGCCAGGTCTGTAAGGAT 0.423000 19 39 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55826543 55826543 + Missense_Mutation SNP C C A rs148162562 TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr10:55826543C>A ENST00000373965.2 - 19 2609 c.2215G>T c.(2215-2217)Gcc>Tcc p.A739S PCDH15_ENST00000395433.1_Missense_Mutation_p.A710S|PCDH15_ENST00000395445.1_Missense_Mutation_p.A739S|PCDH15_ENST00000373955.1_Missense_Mutation_p.A732S|PCDH15_ENST00000414778.1_Missense_Mutation_p.A737S|PCDH15_ENST00000361849.3_Missense_Mutation_p.A732S|PCDH15_ENST00000395430.1_Missense_Mutation_p.A732S|PCDH15_ENST00000373957.3_Missense_Mutation_p.A710S|PCDH15_ENST00000437009.1_Missense_Mutation_p.A661S|PCDH15_ENST00000395432.2_Missense_Mutation_p.A695S|PCDH15_ENST00000409834.1_Missense_Mutation_p.A343S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A732S|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A732S NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 732 Cadherin 7. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AAGGCATTGGCTTCTTCTTCC 0.343000 HNSCC(58;0.16) 12 41 7.93312e-07 8.61701e-07 1 1 0 SLC6A5 9152 broad.mit.edu 37 11 20652328 20652328 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr11:20652328C>T ENST00000525748.1 + 10 1864 c.1591C>T c.(1591-1593)Cgc>Tgc p.R531C SLC6A5_ENST00000528440.1_3'UTR NM_004211.3 NP_004202.2 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter transporter), member 5 531 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GGCCAATGAACGCAAAGTCAA 0.507000 5 35 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94173180 94173180 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:94173180G>A ENST00000553484.1 + 51 8058 c.7904G>A c.(7903-7905)tGc>tAc p.C2635Y UNC79_ENST00000555664.1_Missense_Mutation_p.C2574Y|UNC79_ENST00000256339.4_Missense_Mutation_p.C2436Y|UNC79_ENST00000393151.2_Missense_Mutation_p.C2613Y Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2613 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGGTTGCAGTGCACTCAGTTC 0.577000 10 56 0 0 1 0 0 IGHG3 0 broad.mit.edu 37 14 106237046 106237046 + RNA SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:106237046G>A ENST00000390551.2 - 0 304 CACCAAGTGGGGTTTTGAGCT 0.572000 58 61 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158608031 158608031 + Splice_Site SNP C C A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:158608031C>A ENST00000368148.3 - 36 5161 c.4980_splice c.e36-1 p.D1661_splice SPTA1_ENST00000368147.3_Splice_Site_p.D1661_splice NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1661 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTGAGTGCATCCTAGAAAGTC 0.433000 6 27 0.00198382 0.00204886 1 1 0 TAF1D 79101 broad.mit.edu 37 11 93469412 93469412 + Missense_Mutation SNP T T G rs76450167 TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr11:93469412T>G ENST00000448108.2 - 6 1402 c.752A>C c.(751-753)gAa>gCa p.E251A NM_024116.3 NP_077021.1 Q9H5J8 TAF1D_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding large_intestine(1)|lung(3)|prostate(1)|skin(2) 7 AATATCCTCTTCTTCTAAGTA 0.363000 22 36 0 0 1 0 0 FRMD3 257019 broad.mit.edu 37 9 85924472 85924472 + Missense_Mutation SNP A A G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr9:85924472A>G ENST00000304195.3 - 10 1111 c.905T>C c.(904-906)gTg>gCg p.V302A FRMD3_ENST00000376434.1_Missense_Mutation_p.V108A|FRMD3_ENST00000376438.1_Missense_Mutation_p.V302A NM_001244960.1|NM_174938.5 NP_001231889.1|NP_777598.3 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 302 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 30 CTGGTTTTCCACTCCACACTT 0.348000 12 32 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5545497 5545497 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr6:5545497G>A ENST00000324331.6 + 5 1325 c.989G>A c.(988-990)cGt>cAt p.R330H FARS2_ENST00000274680.4_Missense_Mutation_p.R330H O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 330 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding p.R330H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) CCTGATATCCGTCTCTTCTGG 0.473000 46 89 0 0 1 0 0 RALY 22913 broad.mit.edu 37 20 32664877 32664877 + Silent SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr20:32664877C>T ENST00000375114.3 + 7 1232 c.654C>T c.(652-654)ggC>ggT p.G218G RALY_ENST00000246194.3_Silent_p.G234G NM_007367.3 NP_031393.2 Q9UKM9 RALY_HUMAN RALY heterogeneous nuclear ribonucleoprotein 234 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex nucleotide binding|RNA binding kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 gcggcggcggcggtggtggtg 0.667000 3 11 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408302 105408302 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:105408302C>T ENST00000333244.5 - 7 13605 c.13486G>A c.(13486-13488)Gac>Aac p.D4496N AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4496 nucleus p.D4496N(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATGCTCATGTCGGCCTCCATC 0.587000 13 175 0 0 1 0 0 NTRK3 4916 broad.mit.edu 37 15 88678541 88678541 + Missense_Mutation SNP G G A rs145157285 by1000genomes TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr15:88678541G>A ENST00000394480.1 - 10 1316 c.995C>T c.(994-996)aCg>aTg p.T332M NTRK3_ENST00000540489.2_Missense_Mutation_p.T332M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T332M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T332M|NTRK3_ENST00000558676.1_Missense_Mutation_p.T332M|NTRK3_ENST00000360948.2_Missense_Mutation_p.T332M|NTRK3_ENST00000317501.3_Missense_Mutation_p.T332M|NTRK3_ENST00000542733.2_Missense_Mutation_p.T234M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T332M NM_001243101.1|NM_002530.3 NP_001230030.1|NP_002521.2 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 332 Ig-like C2-type 2. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.T332M(3) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) CCAGTGCAGCGTTGGTGGGGG 0.602000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 24 37 0 0 1 0 0 NDST2 8509 broad.mit.edu 37 10 75567489 75567489 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr10:75567489C>T ENST00000299641.4 - 4 1259 c.289G>A c.(289-291)Ggg>Agg p.G97R NDST2_ENST00000309979.6_Missense_Mutation_p.G220R NM_003635.3 NP_003626.1 P52849 NDST2_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 220 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) GGCAGTGGCCCTGGTTCTAGG 0.557000 15 14 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152192359 152192359 + Silent SNP A A T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:152192359A>T ENST00000368801.2 - 3 1821 c.1746T>A c.(1744-1746)tcT>tcA p.S582S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 582 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTAAGCCAGAAGAGTGAC 0.562000 24 194 0 0 1 0 0 NGFR 4804 broad.mit.edu 37 17 47583677 47583677 + Silent SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr17:47583677C>T ENST00000172229.3 + 3 350 c.225C>T c.(223-225)gaC>gaT p.D75D RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR NM_002507.3 NP_002498.1 P08138 TNR16_HUMAN nerve growth factor receptor 75 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1) 17 all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17) CGTTCTCCGACGTGGTGAGCG 0.672000 5 51 0 0 1 0 0 COQ5 84274 broad.mit.edu 37 12 120960123 120960123 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr12:120960123C>T ENST00000288532.6 - 2 286 c.246G>A c.(244-246)atG>atA p.M82I COQ5_ENST00000445328.2_Missense_Mutation_p.M82I NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 82 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATATCATTCATCACATCAT 0.438000 4 62 0 0 1 0 0 CCDC181 57821 broad.mit.edu 37 1 169391324 169391324 + Missense_Mutation SNP C C A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:169391324C>A ENST00000545005.1 - 4 852 c.345G>T c.(343-345)ttG>ttT p.L115F CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367806.3_Missense_Mutation_p.L115F|CCDC181_ENST00000367805.3_Missense_Mutation_p.L115F coiled-coil domain containing 181 CTTCCTCCTCCAAGTCTTTCT 0.388000 6 50 0.217242 0.217242 1 1 0 PROX2 283571 broad.mit.edu 37 14 75329862 75329862 + Silent SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:75329862G>A ENST00000556084.2 - 1 675 c.676C>T c.(676-678)Ctg>Ttg p.L226L PROX2_ENST00000445876.1_Silent_p.L226L|PROX2_ENST00000556489.2_Silent_p.L226L NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 226 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) TCTTTCCTCAGAATCTCTAGT 0.537000 22 36 0 0 1 0 0 KRR1 11103 broad.mit.edu 37 12 75893616 75893616 + Missense_Mutation SNP A A C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr12:75893616A>C ENST00000229214.4 - 10 1142 c.1119T>G c.(1117-1119)gaT>gaG p.D373E KRR1_ENST00000438169.2_Missense_Mutation_p.D316E|GLIPR1_ENST00000266659.3_3'UTR NM_007043.6 NP_008974.5 Q13601 KRR1_HUMAN KRR1, small subunit (SSU) processome component, homolog (yeast) 373 Lys-rich. rRNA processing nucleolus|ribonucleoprotein complex RNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1) 11 TTTTCTTTTCATCTGCCTCCA 0.358000 14 25 0 0 1 0 0 UACA 55075 broad.mit.edu 37 15 70960066 70960066 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr15:70960066G>A ENST00000322954.6 - 16 3142 c.2957C>T c.(2956-2958)gCc>gTc p.A986V UACA_ENST00000560441.1_Missense_Mutation_p.A971V|UACA_ENST00000379983.2_Missense_Mutation_p.A973V|UACA_ENST00000539319.1_Missense_Mutation_p.A877V NM_018003.2 NP_060473.2 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and ankyrin repeats 986 cytoskeleton|extracellular region breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2) 50 GACAATTGGGGCGTATTTTAC 0.403000 4 120 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 30953765 30953765 + Missense_Mutation SNP A A G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr21:30953765A>G ENST00000399914.1 - 12 2368 c.1847T>C c.(1846-1848)gTt>gCt p.V616A GRIK1_ENST00000399909.1_Missense_Mutation_p.V616A|GRIK1_ENST00000399913.1_Missense_Mutation_p.V631A|GRIK1_ENST00000389124.2_Missense_Mutation_p.V631A|GRIK1_ENST00000327783.4_Missense_Mutation_p.V631A|GRIK1_ENST00000309434.7_Missense_Mutation_p.V633A|GRIK1_ENST00000535441.1_Missense_Mutation_p.V633A|GRIK1_ENST00000389125.3_Missense_Mutation_p.V616A|GRIK1_ENST00000399907.1_Missense_Mutation_p.V631A P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 631 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GAGAGCTCCAACTCCAAACCA 0.478000 5 46 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149497093 149497093 + RNA SNP G G C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr7:149497093G>C ENST00000378016.2 + 0 7132 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACCCCTGCTGGTAAGATGCCA 0.612000 5 21 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284255 152284255 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:152284255C>T ENST00000368799.1 - 3 3142 c.3107G>A c.(3106-3108)cGc>cAc p.R1036H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1036 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTGGTGGCGGGATCCGTG 0.562000 Ichthyosis 6 464 0 0 1 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919255 21919255 + Missense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr12:21919255C>T ENST00000240662.2 - 3 1022 c.677G>A c.(676-678)cGc>cAc p.R226H RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 226 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CACCTGGATGCGCACAGAGGC 0.493000 45 65 0 0 1 0 0 AP000295.9 0 broad.mit.edu 37 21 34640775 34640775 + Missense_Mutation SNP A A G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr21:34640775A>G ENST00000433395.2 + 4 509 c.509A>G c.(508-510)cAc>cGc p.H170R IL10RB_ENST00000290200.2_Silent_p.S42S AGTGGGAGTCACCTGCTTTTG 0.473000 7 72 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240070781 240070781 + Silent SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:240070781G>A ENST00000255380.4 + 5 809 c.30G>A c.(28-30)tcG>tcA p.S10S NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 10 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GTACAACCTCGCCTTTGTTTC 0.483000 4 59 0 0 1 0 0 UVSSA 57654 broad.mit.edu 37 4 1377682 1377682 + Nonsense_Mutation SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr4:1377682C>T ENST00000389851.4 + 13 2437 c.1990C>T c.(1990-1992)Cag>Tag p.Q664* UVSSA_ENST00000511563.1_Nonsense_Mutation_p.Q215*|UVSSA_ENST00000511216.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000507531.1_Nonsense_Mutation_p.Q664*|UVSSA_ENST00000512728.1_Nonsense_Mutation_p.Q215* NM_020894.2 NP_065945.2 Q2YD98 K1530_HUMAN UV-stimulated scaffold protein A 664 CCTGAAGGCTCAGGCTGATAC 0.637000 6 49 0 0 1 0 0 LCE1C 353133 broad.mit.edu 37 1 152777704 152777704 + Missense_Mutation SNP C C G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:152777704C>G ENST00000368768.1 - 2 301 c.251G>C c.(250-252)aGg>aCg p.R84T LCE1C_ENST00000607093.1_Missense_Mutation_p.R84T NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 84 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCAGTGGGACCTACGGCGCCT 0.701000 10 55 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66478213 66478213 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr11:66478213G>A ENST00000533211.1 - 10 1244 c.913C>T c.(913-915)Cgc>Tgc p.R305C SPTBN2_ENST00000529997.1_Missense_Mutation_p.R305C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R305C O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 305 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 TCCACCAGGCGCTCTGCCTCC 0.627000 3 40 0 0 1 0 0 ETV3 2117 broad.mit.edu 37 1 157105362 157105362 + Missense_Mutation SNP C C G TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:157105362C>G ENST00000368192.4 - 3 249 c.185G>C c.(184-186)gGg>gCg p.G62A ETV3_ENST00000326786.4_Missense_Mutation_p.G62A|ETV3_ENST00000460850.1_5'UTR NM_001145312.1 NP_001138784.1 P41162 ETV3_HUMAN ets variant 3 62 sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2) 9 Hepatocellular(266;0.158) Prostate(1639;0.174) GACAAATTCCCCGTACTCTCC 0.592000 15 38 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76555114 76555114 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr16:76555114G>A ENST00000307431.8 + 17 2825 c.2440G>A c.(2440-2442)Gcg>Acg p.A814T CNTNAP4_ENST00000476707.1_Missense_Mutation_p.A818T|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.A742T|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.A766T NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 815 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.A742T(1)|p.A814T(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 AGAACTTAGCGCGGATGTATC 0.383000 23 58 0 0 1 0 0 HRG 3273 broad.mit.edu 37 3 186394861 186394861 + Missense_Mutation SNP C C T rs143855375 by1000genomes TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr3:186394861C>T ENST00000232003.4 + 7 847 c.767C>T c.(766-768)cCg>cTg p.P256L NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 256 fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding p.P256Q(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) AATGGTGTACCGCCTCATTTG 0.448000 35 70 0 0 1 0 0 AMZ1 155185 broad.mit.edu 37 7 2752464 2752464 + Silent SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr7:2752464C>T ENST00000312371.4 + 7 1817 c.1449C>T c.(1447-1449)ctC>ctT p.L483L AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 483 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) CCCGAAAACTCGCCAGAGCAG 0.647000 11 41 0 0 1 0 0 CTSG 1511 broad.mit.edu 37 14 25043995 25043995 + Silent SNP G G A rs143803246 TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr14:25043995G>A ENST00000216336.2 - 3 261 c.225C>T c.(223-225)ggC>ggT p.G75G NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 75 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.G75G(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) TATTGTGGGCGCCCAGGGTGA 0.557000 5 60 0 0 1 0 0 MOCS2 4338 broad.mit.edu 37 5 52394453 52394453 + Silent SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr5:52394453G>A ENST00000396954.3 - 7 1223 c.546C>T c.(544-546)tgC>tgT p.C182C MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_3'UTR NM_004531.3 NP_004522.1 O96033 MOC2A_HUMAN molybdenum cofactor synthesis 2 0 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(810;3.08e-05)|Breast(144;0.0848) ATGCCCAAAAGCACTCTTTGT 0.289000 7 36 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158669493 158669493 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:158669493G>A ENST00000359610.2 - 1 993 c.950C>T c.(949-951)cCa>cTa p.P317L NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 317 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) TGAGGTCCCTGGTCTTACGGA 0.373000 16 32 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55111638 55111638 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr11:55111638G>A ENST00000314721.2 + 1 1012 c.962G>A c.(961-963)aGt>aAt p.S321N NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 321 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TTTATTCCTAGTTCTAAGGCA 0.343000 13 14 0 0 1 0 0 IARS2 55699 broad.mit.edu 37 1 220275731 220275731 + Silent SNP T T A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:220275731T>A ENST00000366922.1 + 5 841 c.510T>A c.(508-510)ccT>ccA p.P170P IARS2_ENST00000302637.5_Silent_p.P242P Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 242 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CTTACAAACCTGTGTTTTGGT 0.308000 3 45 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56330243 56330243 + Missense_Mutation SNP G G A TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr3:56330243G>A ENST00000288221.6 - 3 1133 c.878C>T c.(877-879)aCg>aTg p.T293M NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 293 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) TTGTTTCTGCGTTTCAATTCT 0.458000 11 235 0 0 1 0 0 LINC00471 0 broad.mit.edu 37 2 232373921 232373921 + RNA SNP C C T TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr2:232373921C>T ENST00000313064.2 - 0 497 NR_024079.1 GTGGCTCTCACGGTCCTTGAG 0.522000 4 114 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35824942 35824942 + Frame_Shift_Del DEL G G - TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:35824942delG ENST00000314607.6 + 3 582 c.502delG c.(502-504)gafs p.G168fs ZMYM4-AS1_ENST00000432683.1_RNA|ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.G168fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 168 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GACATTTTCTGGAAAGGAGAA 0.313 14 34 --- --- --- --- RP11-343N15.1 0 broad.mit.edu 37 1 121137791 121137793 + RNA DEL CCA CCA - rs28552466 by1000genomes TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr1:121137791_121137793delCCA ENST00000437515.1 - 0 329 ATTTCGCCCTCCACCGCCGCCGC 0.631 4 5 --- --- --- --- JRK 8629 broad.mit.edu 37 8 143747534 143747534 + RNA DEL C C - TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr8:143747534delC ENST00000507178.2 - 0 276 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) TGGGCTGCTGCCACTACTTCC 0.667 2 4 --- --- --- --- TEX10 54881 broad.mit.edu 37 9 103066107 103066108 + Frame_Shift_Ins INS - - C TCGA-Y6-A9XI-01A-11D-A41K-08 TCGA-Y6-A9XI-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 19093082-7365-4b1e-aeea-9a7203bf78a3 7720c12c-81ea-41fc-a13c-48fcc8d219b8 g.chr9:103066107_103066108insC ENST00000374902.4 - 14 2658_2659 c.2482_2483insG c.(2482-2484)ctgfs p.L828fs TEX10_ENST00000477648.1_5'UTR|TEX10_ENST00000535814.1_Intron NM_017746.3 NP_060216.2 Q9NXF1 TEX10_HUMAN testis expressed 10 828 integral to membrane|MLL1 complex|nuclear membrane|nucleolus binding NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 38 Acute lymphoblastic leukemia(62;0.0527) OV - Ovarian serous cystadenocarcinoma(323;0.157) GGAGACACAGACCCCCCACAGC 0.545 9 39 --- --- --- ---